Entrez Gene

Basic Information
Gene ID	3091
Name	HIF1A
Synonymous	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor);HIF1A;hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
Definition	ARNT interacting protein\|ARNT-interacting protein\|HIF-1-alpha\|PAS domain-containing protein 8\|basic-helix-loop-helix-PAS protein MOP1\|class E basic helix-loop-helix protein 78\|hypoxia-inducible factor 1 alpha isoform I.3\|hypoxia-inducible factor 1, alpha
Position	14q23.2
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.16.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.984G>A; p.K328K; 14:61734241-61734241	skin	malignant_melanoma	Substitution - coding silent
c.2382G>A; p.Q794Q; 14:61746986-61746986	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.40A>C; p.S14R; 14:61720386-61720386	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.359T>C; p.M120T; 14:61721641-61721641	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1458A>G; p.E486E; 14:61738295-61738295	liver	carcinoma	Substitution - coding silent
c.2188C>T; p.Q730*; 14:61744799-61744799	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Nonsense
c.917G>T; p.R306M; 14:61734174-61734174	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2252C>T; p.S751F; 14:61745740-61745740	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1892G>A; p.R631H; 14:61740987-61740987	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1483C>A; p.Q495K; 14:61738320-61738320	skin	malignant_melanoma	Substitution - Missense
c.2228A>C; p.D743A; 14:61745716-61745716	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.65C>A; p.S22Y; 14:61720411-61720411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2424C>T; p.G808G; 14:61747028-61747028	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1031G>A; p.G344D; 14:61736891-61736891	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2261G>A; p.R754H; 14:61745749-61745749	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2322A>G; p.I774M; 14:61745810-61745810	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1626A>G; p.E542E; 14:61740594-61740594	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1914G>A; p.L638L; 14:61741009-61741009	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1825G>T; p.E609*; 14:61740920-61740920	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1641G>T; p.K547N; 14:61740609-61740609	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1641G>T; p.K547N; 14:61740609-61740609	breast	carcinoma	Substitution - Missense
c.1825G>T; p.E609*; 14:61740920-61740920	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.984G>T; p.K328N; 14:61734241-61734241	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1327T>A; p.L443I; 14:61738164-61738164	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1762G>C; p.A588P; 14:61740857-61740857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.525A>G; p.L175L; 14:61726773-61726773	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.58G>T; p.E20*; 14:61720404-61720404	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.513G>T; p.M171I; 14:61726761-61726761	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1790G>A; p.S597N; 14:61740885-61740885	skin	malignant_melanoma	Substitution - Missense
c.2091A>G; p.Q697Q; 14:61741186-61741186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2094-1G>C; p.?; 14:61744704-61744704	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.875A>G; p.H292R; 14:61732519-61732519	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.881-9delC; p.?; 14:61734129-61734129	stomach	adenocarcinoma	Unknown
c.1430A>C; p.K477T; 14:61738267-61738267	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.373-5delTACAGTTTGAACTAACTGGA; p.?; 14:61721734-61721753	kidney	carcinoma	Unknown
c.1762G>A; p.A588T; 14:61740857-61740857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1762G>A; p.A588T; 14:61740857-61740857	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1135G>A; p.E379K; 14:61736995-61736995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1172A>G; p.K391R; 14:61737032-61737032	thyroid	carcinoma	Substitution - Missense
c.177G>A; p.V59V; 14:61720523-61720523	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2068G>A; p.V690M; 14:61741163-61741163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2068G>A; p.V690M; 14:61741163-61741163	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2068G>A; p.V690M; 14:61741163-61741163	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1299T>G; p.D433E; 14:61738136-61738136	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.308T>C; p.L103P; 14:61721590-61721590	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1680G>T; p.E560D; 14:61740775-61740775	breast	carcinoma	Substitution - Missense
c.2113G>T; p.E705*; 14:61744724-61744724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1732G>A; p.D578N; 14:61740827-61740827	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.120T>C; p.L40L; 14:61720466-61720466	breast	carcinoma	Substitution - coding silent
c.2311A>C; p.I771L; 14:61745799-61745799	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1005T>C; p.I335I; 14:61734262-61734262	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1213G>A; p.G405R; 14:61737073-61737073	pancreas	carcinoma	Substitution - Missense
c.1548C>A; p.P516P; 14:61740516-61740516	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2238T>G; p.A746A; 14:61745726-61745726	pancreas	carcinoma	Substitution - coding silent
c.1918G>C; p.A640P; 14:61741013-61741013	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1659G>C; p.Q553H; 14:61740627-61740627	ovary	other; neoplasm	Substitution - Missense
c.541A>C; p.T181P; 14:61726789-61726789	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2163A>C; p.K721N; 14:61744774-61744774	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.160C>A; p.L54I; 14:61720506-61720506	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2407A>G; p.N803D; 14:61747011-61747011	pancreas	carcinoma	Substitution - Missense
c.1021G>A; p.V341I; 14:61734278-61734278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.55A>C; p.K19Q; 14:61720401-61720401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.773+8A>T; p.?; 14:61727663-61727663	liver	carcinoma	Unknown
c.2384_2393del10; p.T796fs*>28; 14:61746988-61746997	pancreas	carcinoma	Deletion - Frameshift
c.785T>C; p.L262S; 14:61732429-61732429	skin	malignant_melanoma	Substitution - Missense
c.2384_2393del10; p.T796fs*>28; 14:61746988-61746997	pancreas	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.1468A>G; p.T490A; 14:61738305-61738305	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1321G>A; p.E441K; 14:61738158-61738158	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.53G>A; p.R18Q; 14:61720399-61720399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.53G>A; p.R18Q; 14:61720399-61720399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49C>G; p.R17G; 14:61720395-61720395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.124C>T; p.H42Y; 14:61720470-61720470	breast	carcinoma	Substitution - Missense
c.197A>G; p.Y66C; 14:61720543-61720543	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1013T>C; p.V338A; 14:61734270-61734270	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1908A>C; p.K636N; 14:61741003-61741003	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.496A>C; p.S166R; 14:61726744-61726744	liver	carcinoma	Substitution - Missense
c.496A>C; p.S166R; 14:61726744-61726744	liver	carcinoma	Substitution - Missense
c.106_107insT; p.Y38fs*2; 14:61720452-61720453	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.67C>T; p.R23*; 14:61720413-61720413	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2080G>A; p.A694T; 14:61741175-61741175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.417T>C; p.C139C; 14:61721783-61721783	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1938C>T; p.H646H; 14:61741033-61741033	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.637A>C; p.K213Q; 14:61727519-61727519	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1571A>G; p.D524G; 14:61740539-61740539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1996A>T; p.T666S; 14:61741091-61741091	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2067C>T; p.N689N; 14:61741162-61741162	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1659+2T>C; p.?; 14:61740629-61740629	stomach	carcinoma; adenocarcinoma	Unknown
c.46G>T; p.E16*; 14:61720392-61720392	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.2180C>A; p.S727*; 14:61744791-61744791	kidney	carcinoma; renal_cell_carcinoma	Substitution - Nonsense
c.2180C>A; p.S727*; 14:61744791-61744791	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2369G>A; p.S790N; 14:61746973-61746973	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>A; p.S790N; 14:61746973-61746973	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1924C>T; p.P642S; 14:61741019-61741019	breast	carcinoma	Substitution - Missense
c.750G>C; p.M250I; 14:61727632-61727632	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.507C>G; p.L169L; 14:61726755-61726755	breast	carcinoma	Substitution - coding silent
c.734G>A; p.R245Q; 14:61727616-61727616	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.380T>A; p.L127Q; 14:61721746-61721746	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.958C>T; p.Q320*; 14:61734215-61734215	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.97G>T; p.E33*; 14:61720443-61720443	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1607T>C; p.V536A; 14:61740575-61740575	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607T>C; p.V536A; 14:61740575-61740575	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.847G>C; p.D283H; 14:61732491-61732491	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1141G>A; p.E381K; 14:61737001-61737001	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.361G>T; p.G121*; 14:61721643-61721643	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.89G>A; p.R30Q; 14:61720435-61720435	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1857C>T; p.A619A; 14:61740952-61740952	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.89G>A; p.R30Q; 14:61720435-61720435	skin	malignant_melanoma	Substitution - Missense
c.1190T>G; p.L397*; 14:61737050-61737050	skin; subungual	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.2260C>T; p.R754C; 14:61745748-61745748	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1341T>A; p.N447K; 14:61738178-61738178	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1866T>A; p.D622E; 14:61740961-61740961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.357C>A; p.Y119*; 14:61721639-61721639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1537-1G>A; p.?; 14:61740504-61740504	skin	malignant_melanoma	Unknown
c.173C>A; p.S58Y; 14:61720519-61720519	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1657C>A; p.Q553K; 14:61740625-61740625	skin	malignant_melanoma	Substitution - Missense
c.1281A>C; p.E427D; 14:61738118-61738118	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.2135C>A; p.A712D; 14:61744746-61744746	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1011T>A; p.C337*; 14:61734268-61734268	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1897G>A; p.E633K; 14:61740992-61740992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1268A>C; p.Q423P; 14:61738105-61738105	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.805G>T; p.E269*; 14:61732449-61732449	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.996A>G; p.P332P; 14:61734253-61734253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.805G>T; p.E269*; 14:61732449-61732449	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.700G>A; p.E234K; 14:61727582-61727582	prostate	adenoma	Substitution - Missense
c.2089C>G; p.Q697E; 14:61741184-61741184	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2089C>G; p.Q697E; 14:61741184-61741184	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1470C>T; p.T490T; 14:61738307-61738307	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.984G>C; p.K328N; 14:61734241-61734241	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2438T>C; p.L813P; 14:61747042-61747042	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>T; p.S502S; 14:61738343-61738343	skin	malignant_melanoma	Substitution - coding silent
c.2227G>A; p.D743N; 14:61745715-61745715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.821C>T; p.S274L; 14:61732465-61732465	pancreas	carcinoma	Substitution - Missense
c.1321G>T; p.E441*; 14:61738158-61738158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.446C>G; p.T149R; 14:61721812-61721812	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2384T>C; p.L795P; 14:61746988-61746988	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2120delA; p.N707fs*5; 14:61744731-61744731	kidney	carcinoma	Deletion - Frameshift
c.123T>G; p.A41A; 14:61720469-61720469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2179T>C; p.S727P; 14:61744790-61744790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1535A>T; p.E512V; 14:61738372-61738372	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2179T>C; p.S727P; 14:61744790-61744790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.712G>A; p.D238N; 14:61727594-61727594	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2043A>C; p.E681D; 14:61741138-61741138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2043A>T; p.E681D; 14:61741138-61741138	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2423G>T; p.G808V; 14:61747027-61747027	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2423G>T; p.G808V; 14:61747027-61747027	pancreas	carcinoma	Substitution - Missense

Mutation summary in protein domains

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The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]