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	3117
Symbol	HLA-DQA1
Synonymous	CD\|CELIAC1\|DQ-A1\|GSE\|HLA-DQA
Full name	major histocompatibility complex, class II, DQ alpha 1
Gene description	DC-1 alpha chain\|DC-alpha\|HLA class II histocompatibility antigen, DQ alpha 1 chain\|HLA class II histocompatibility antigen, DQ(W3) alpha chain\|HLA-DCA\|MHC HLA-DQ alpha\|MHC class II DQA1\|MHC class II HLA-D alpha glycoprotein\|MHC class II HLA-DQ-alpha-1\|MH
Cytoband	6p21.3
Gene type	protein-coding
Synonymous	MIM:146880; HGNC:HGNC:4942; Ensembl:ENSG00000196735; HPRD:06765; Vega:OTTHUMG00000031106

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - In frame
c.235_237delGGT; p.G79delG; 6:32641462-32641464	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.82G>A; p.A28T; 6:32637540-32637540	skin	malignant_melanoma	Substitution - Missense
c.492C>A; p.L164L; 6:32642132-32642132	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.209G>A; p.R70Q; 6:32641436-32641436	thyroid	other; neoplasm	Substitution - Missense
c.209G>A; p.R70Q; 6:32641436-32641436	thyroid	other; neoplasm	Substitution - Missense
c.249G>A; p.Q83Q; 6:32641476-32641476	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.623T>A; p.I208N; 6:32642619-32642619	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.226A>C; p.K76Q; 6:32641453-32641453	thyroid	other; neoplasm	Substitution - Missense
c.251G>T; p.G84V; 6:32641478-32641478	thyroid	other; neoplasm	Substitution - Missense
c.251G>T; p.G84V; 6:32641478-32641478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.224_225insA; p.S75fs*7; 6:32641451-32641452	NS	malignant_melanoma	Insertion - Frameshift
c.730C>T; p.R244C; 6:32642726-32642726	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.730C>T; p.R244C; 6:32642726-32642726	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.196G>C; p.E66Q; 6:32641423-32641423	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.138C>G; p.G46G; 6:32641365-32641365	liver	carcinoma	Substitution - coding silent
c.138C>G; p.G46G; 6:32641365-32641365	thyroid	other; neoplasm	Substitution - coding silent
c.90C>T; p.H30H; 6:32641317-32641317	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.722A>G; p.Q241R; 6:32642718-32642718	thyroid	other; neoplasm	Substitution - Missense
c.722A>G; p.Q241R; 6:32642718-32642718	thyroid	other; neoplasm	Substitution - Missense
c.722A>G; p.Q241R; 6:32642718-32642718	thyroid	other; neoplasm	Substitution - Missense
c.762A>C; p.P254P; 6:32642758-32642758	liver	carcinoma	Substitution - coding silent
c.762A>C; p.P254P; 6:32642758-32642758	thyroid	other; neoplasm	Substitution - coding silent
c.762A>C; p.P254P; 6:32642758-32642758	thyroid	other; neoplasm	Substitution - coding silent
c.457T>G; p.S153A; 6:32642097-32642097	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.332-3C>T; p.?; 6:32641969-32641969	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.332-3C>T; p.?; 6:32641969-32641969	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.223A>C; p.S75R; 6:32641450-32641450	thyroid	other; neoplasm	Substitution - Missense
c.223A>C; p.S75R; 6:32641450-32641450	thyroid	other; neoplasm	Substitution - Missense
c.223A>C; p.S75R; 6:32641450-32641450	thyroid	other; neoplasm	Substitution - Missense
c.705C>G; p.G235G; 6:32642701-32642701	thyroid	other; neoplasm	Substitution - coding silent
c.705C>G; p.G235G; 6:32642701-32642701	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.705C>G; p.G235G; 6:32642701-32642701	thyroid	other; neoplasm	Substitution - coding silent
c.705C>G; p.G235G; 6:32642701-32642701	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.232G>A; p.G78R; 6:32641459-32641459	thyroid	other; neoplasm	Substitution - Missense
c.232G>A; p.G78R; 6:32641459-32641459	thyroid	other; neoplasm	Substitution - Missense
c.232G>A; p.G78R; 6:32641459-32641459	thyroid	other; neoplasm	Substitution - Missense
c.232G>A; p.G78R; 6:32641459-32641459	thyroid	other; neoplasm	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	thyroid	other; neoplasm	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.592C>A; p.Q198K; 6:32642232-32642232	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.507T>A; p.H169Q; 6:32642147-32642147	skin	malignant_melanoma	Substitution - Missense
c.169C>G; p.Q57E; 6:32641396-32641396	thyroid	other; neoplasm	Substitution - Missense
c.169C>G; p.Q57E; 6:32641396-32641396	thyroid	other; neoplasm	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.224G>A; p.S75N; 6:32641451-32641451	thyroid	other; neoplasm	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	thyroid	other; neoplasm	Substitution - Missense
c.224G>A; p.S75N; 6:32641451-32641451	thyroid	other; neoplasm	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	thyroid	other; neoplasm	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>T; p.D197D; 6:32642231-32642231	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.591C>T; p.D197D; 6:32642231-32642231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.714C>G; p.F238L; 6:32642710-32642710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	thyroid	other; neoplasm	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.714C>G; p.F238L; 6:32642710-32642710	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.591C>T; p.D197D; 6:32642231-32642231	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.446G>A; p.S149N; 6:32642086-32642086	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	thyroid	other; neoplasm	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	thyroid	other; neoplasm	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.203C>T; p.A68V; 6:32641430-32641430	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.187G>A; p.E63K; 6:32641414-32641414	skin	malignant_melanoma	Substitution - Missense
c.242A>G; p.D81G; 6:32641469-32641469	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.225C>A; p.S75R; 6:32641452-32641452	thyroid	other; neoplasm	Substitution - Missense
c.621G>A; p.E207E; 6:32642617-32642617	skin	malignant_melanoma	Substitution - coding silent
c.367G>A; p.V123M; 6:32642007-32642007	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.390C>T; p.T130T; 6:32642030-32642030	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; caecum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.126C>T; p.Y42Y; 6:32641353-32641353	thyroid	other; neoplasm	Substitution - coding silent
c.292_293insG; p.I98fs*4; 6:32641519-32641520	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.466G>A; p.E156K; 6:32642106-32642106	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.143A>T; p.Y48F; 6:32641370-32641370	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.143A>T; p.Y48F; 6:32641370-32641370	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.567C>A; p.C189*; 6:32642207-32642207	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Nonsense
c.143A>T; p.Y48F; 6:32641370-32641370	thyroid	other; neoplasm	Substitution - Missense
c.101G>A; p.C34Y; 6:32641328-32641328	thyroid	other; neoplasm	Substitution - Missense
c.101G>A; p.C34Y; 6:32641328-32641328	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.101G>A; p.C34Y; 6:32641328-32641328	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.101G>A; p.C34Y; 6:32641328-32641328	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.628G>A; p.A210T; 6:32642624-32642624	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.663T>C; p.C221C; 6:32642659-32642659	liver	carcinoma	Substitution - coding silent
c.663T>C; p.C221C; 6:32642659-32642659	thyroid	other; neoplasm	Substitution - coding silent
c.484A>G; p.S162G; 6:32642124-32642124	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.592C>G; p.Q198E; 6:32642232-32642232	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.592C>G; p.Q198E; 6:32642232-32642232	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.60C>T; p.P20P; 6:32637518-32637518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.275C>T; p.A92V; 6:32641502-32641502	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.275C>T; p.A92V; 6:32641502-32641502	thyroid	other; neoplasm	Substitution - Missense
c.682G>A; p.G228S; 6:32642678-32642678	NS	malignant_melanoma	Substitution - Missense
c.282C>T; p.H94H; 6:32641509-32641509	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.282C>T; p.H94H; 6:32641509-32641509	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.345C>T; p.V115V; 6:32641985-32641985	breast	carcinoma	Substitution - coding silent
c.345C>T; p.V115V; 6:32641985-32641985	skin	malignant_melanoma	Substitution - coding silent
c.418C>T; p.P140S; 6:32642058-32642058	skin	malignant_melanoma	Substitution - Missense
c.155T>G; p.F52C; 6:32641382-32641382	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.208C>T; p.R70W; 6:32641435-32641435	thyroid	other; neoplasm	Substitution - Missense
c.208C>T; p.R70W; 6:32641435-32641435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.548C>A; p.A183D; 6:32642188-32642188	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	liver	carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	kidney	other; neoplasm	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.456G>C; p.Q152H; 6:32642096-32642096	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146C>G; p.T49S; 6:32641373-32641373	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.357C>A; p.S119S; 6:32641997-32641997	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.146C>G; p.T49S; 6:32641373-32641373	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146C>G; p.T49S; 6:32641373-32641373	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146C>G; p.T49S; 6:32641373-32641373	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.146C>G; p.T49S; 6:32641373-32641373	thyroid	other; neoplasm	Substitution - Missense
c.146C>G; p.T49S; 6:32641373-32641373	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6C>T; p.I2I; 6:32637464-32637464	skin	malignant_melanoma	Substitution - coding silent
c.319G>A; p.A107T; 6:32641546-32641546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.122T>C; p.F41S; 6:32641349-32641349	thyroid	other; neoplasm	Substitution - Missense
c.122T>C; p.F41S; 6:32641349-32641349	thyroid	other; neoplasm	Substitution - Missense
c.122T>C; p.F41S; 6:32641349-32641349	thyroid	other; neoplasm	Substitution - Missense
c.294C>T; p.I98I; 6:32641521-32641521	skin	malignant_melanoma	Substitution - coding silent
c.585C>A; p.G195G; 6:32642225-32642225	liver	carcinoma	Substitution - coding silent
c.227A>G; p.K76R; 6:32641454-32641454	thyroid	other; neoplasm	Substitution - Missense
c.227A>G; p.K76R; 6:32641454-32641454	thyroid	other; neoplasm	Substitution - Missense
c.219G>A; p.E73E; 6:32641446-32641446	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.165T>C; p.D55D; 6:32641392-32641392	thyroid	other; neoplasm	Substitution - coding silent
c.165T>C; p.D55D; 6:32641392-32641392	thyroid	other; neoplasm	Substitution - coding silent
c.165T>C; p.D55D; 6:32641392-32641392	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.267G>C; p.M89I; 6:32641494-32641494	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.267G>C; p.M89I; 6:32641494-32641494	urinary_tract; bladder	carcinoma	Substitution - Missense
c.267G>C; p.M89I; 6:32641494-32641494	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.160G>A; p.G54R; 6:32641387-32641387	skin	malignant_melanoma	Substitution - Missense
c.186G>A; p.L62L; 6:32641413-32641413	skin	malignant_melanoma	Substitution - coding silent
c.160G>A; p.G54R; 6:32641387-32641387	skin	malignant_melanoma	Substitution - Missense
c.31G>A; p.A11T; 6:32637489-32637489	thyroid	other; neoplasm	Substitution - Missense
c.250G>T; p.G84C; 6:32641477-32641477	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.22C>A; p.L8M; 6:32637480-32637480	thyroid	other; neoplasm	Substitution - Missense
c.516C>T; p.F172F; 6:32642156-32642156	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.212G>T; p.W71L; 6:32641439-32641439	thyroid	other; neoplasm	Substitution - Missense
c.212G>T; p.W71L; 6:32641439-32641439	thyroid	other; neoplasm	Substitution - Missense
c.212G>T; p.W71L; 6:32641439-32641439	thyroid	other; neoplasm	Substitution - Missense
c.212G>T; p.W71L; 6:32641439-32641439	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191G>A; p.R64K; 6:32641418-32641418	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191G>A; p.R64K; 6:32641418-32641418	thyroid	other; neoplasm	Substitution - Missense
c.217G>C; p.E73Q; 6:32641444-32641444	thyroid	other; neoplasm	Substitution - Missense
c.217G>C; p.E73Q; 6:32641444-32641444	thyroid	other; neoplasm	Substitution - Missense
c.274G>C; p.A92P; 6:32641501-32641501	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.274G>C; p.A92P; 6:32641501-32641501	thyroid	other; neoplasm	Substitution - Missense
c.274G>C; p.A92P; 6:32641501-32641501	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.274G>C; p.A92P; 6:32641501-32641501	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.229T>C; p.F77L; 6:32641456-32641456	thyroid	other; neoplasm	Substitution - Missense
c.485G>A; p.S162N; 6:32642125-32642125	skin	malignant_melanoma	Substitution - Missense
c.229T>C; p.F77L; 6:32641456-32641456	thyroid	other; neoplasm	Substitution - Missense
c.229T>C; p.F77L; 6:32641456-32641456	thyroid	other; neoplasm	Substitution - Missense
c.457T>C; p.S153P; 6:32642097-32642097	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.518A>G; p.K173R; 6:32642158-32642158	urinary_tract; bladder	carcinoma	Substitution - Missense
c.708T>C; p.T236T; 6:32642704-32642704	thyroid	other; neoplasm	Substitution - coding silent
c.210G>T; p.R70R; 6:32641437-32641437	thyroid	other; neoplasm	Substitution - coding silent
c.708T>C; p.T236T; 6:32642704-32642704	thyroid	other; neoplasm	Substitution - coding silent
c.295A>G; p.M99V; 6:32641522-32641522	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.708T>C; p.T236T; 6:32642704-32642704	thyroid	other; neoplasm	Substitution - coding silent
c.210G>T; p.R70R; 6:32641437-32641437	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.708T>C; p.T236T; 6:32642704-32642704	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.295A>G; p.M99V; 6:32641522-32641522	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.603G>T; p.L201L; 6:32642243-32642243	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.308A>C; p.Y103S; 6:32641535-32641535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.438A>C; p.T146T; 6:32642078-32642078	thyroid	other; neoplasm	Substitution - coding silent
c.438A>C; p.T146T; 6:32642078-32642078	thyroid	other; neoplasm	Substitution - coding silent
c.308A>C; p.Y103S; 6:32641535-32641535	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.438A>C; p.T146T; 6:32642078-32642078	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.438A>C; p.T146T; 6:32642078-32642078	thyroid	other; neoplasm	Substitution - coding silent
c.438A>C; p.T146T; 6:32642078-32642078	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.151G>A; p.E51K; 6:32641378-32641378	skin	malignant_melanoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.151G>A; p.E51K; 6:32641378-32641378	skin	malignant_melanoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535T>C; p.F179L; 6:32642175-32642175	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.260G>C; p.R87T; 6:32641487-32641487	urinary_tract; bladder	carcinoma	Substitution - Missense
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.260G>C; p.R87T; 6:32641487-32641487	thyroid	other; neoplasm	Substitution - Missense
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.295delA; p.M99fs*1; 6:32641522-32641522	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.731G>A; p.R244H; 6:32642727-32642727	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.630C>A; p.A210A; 6:32642626-32642626	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.630C>A; p.A210A; 6:32642626-32642626	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.327C>T; p.T109T; 6:32641554-32641554	skin	malignant_melanoma	Substitution - coding silent
c.218A>T; p.E73V; 6:32641445-32641445	thyroid	other; neoplasm	Substitution - Missense
c.218A>T; p.E73V; 6:32641445-32641445	thyroid	other; neoplasm	Substitution - Missense
c.688A>G; p.M230V; 6:32642684-32642684	thyroid	other; neoplasm	Substitution - Missense
c.688A>G; p.M230V; 6:32642684-32642684	thyroid	other; neoplasm	Substitution - Missense
c.177C>T; p.Y59Y; 6:32641404-32641404	thyroid	other; neoplasm	Substitution - coding silent
c.177C>T; p.Y59Y; 6:32641404-32641404	thyroid	other; neoplasm	Substitution - coding silent
c.177C>T; p.Y59Y; 6:32641404-32641404	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.163G>T; p.D55Y; 6:32641390-32641390	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.208C>A; p.R70R; 6:32641435-32641435	thyroid	other; neoplasm	Substitution - coding silent
c.331G>A; p.E111K; 6:32641558-32641558	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.208C>A; p.R70R; 6:32641435-32641435	thyroid	other; neoplasm	Substitution - coding silent

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation