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	2186
Symbol	BPTF
Synonymous	FAC1\|FALZ\|NURF301
Full name	bromodomain PHD finger transcription factor
Gene description	bromodomain and PHD domain transcription factor\|bromodomain and PHD finger-containing transcription factor\|fetal Alz-50 clone 1 protein\|fetal Alz-50 reactive clone 1\|fetal Alzheimer antigen\|nucleosome remodeling factor, large subunit\|nucleosome-remodeling
Cytoband	17q24.3
Gene type	protein-coding
Synonymous	MIM:601819; HGNC:HGNC:3581; Ensembl:ENSG00000171634; HPRD:03490; Vega:OTTHUMG00000132254

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.5535T>C; p.I1845I; 17:67920121-67920121	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8416G>C; p.D2806H; 17:67964366-67964366	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5759_5760delTG; p.L1920fs*49; 17:67928362-67928363	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.6530G>C; p.G2177A; 17:67944202-67944202	liver	carcinoma	Substitution - Missense
c.1724delA; p.T576fs*47; 17:67874880-67874880	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2802G>A; p.S934S; 17:67904830-67904830	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2424C>G; p.I808M; 17:67894046-67894046	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6530G>C; p.G2177A; 17:67944202-67944202	liver	carcinoma	Substitution - Missense
c.3568G>C; p.E1190Q; 17:67911452-67911452	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1497A>G; p.Q499Q; 17:67866524-67866524	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2634A>G; p.Q878Q; 17:67903879-67903879	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2041_2042insTTTA; p.K681fs*2; 17:67892020-67892021	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Insertion - Frameshift
c.7579C>A; p.L2527I; 17:67946287-67946287	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4824C>A; p.G1608G; 17:67912708-67912708	breast	carcinoma	Substitution - coding silent
c.8262-10G>T; p.?; 17:67964202-67964202	liver	carcinoma	Unknown
c.2696A>C; p.E899A; 17:67904724-67904724	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8262-10G>T; p.?; 17:67964202-67964202	liver	carcinoma	Unknown
c.1570C>T; p.R524C; 17:67866597-67866597	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1484G>C; p.S495T; 17:67866511-67866511	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4180G>C; p.E1394Q; 17:67912064-67912064	urinary_tract; bladder	carcinoma	Substitution - Missense
c.7178C>T; p.S2393L; 17:67945886-67945886	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2142T>C; p.F714F; 17:67893456-67893456	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2820T>C; p.N940N; 17:67909589-67909589	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.6173G>A; p.R2058H; 17:67931933-67931933	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3430G>T; p.D1144Y; 17:67911314-67911314	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5401C>A; p.P1801T; 17:67918811-67918811	breast	carcinoma	Substitution - Missense
c.7820A>G; p.N2607S; 17:67948200-67948200	skin	malignant_melanoma	Substitution - Missense
c.5301G>T; p.W1767C; 17:67913185-67913185	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4478C>T; p.A1493V; 17:67912362-67912362	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.8674G>C; p.E2892Q; 17:67975906-67975906	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.796C>T; p.R266C; 17:67854122-67854122	skin	malignant_melanoma	Substitution - Missense
c.678C>G; p.P226P; 17:67854004-67854004	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.8674G>C; p.E2892Q; 17:67975906-67975906	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1615A>G; p.N539D; 17:67866642-67866642	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5328C>T; p.S1776S; 17:67918738-67918738	skin	malignant_melanoma	Substitution - coding silent
c.5830T>A; p.S1944T; 17:67928433-67928433	thyroid	other; neoplasm	Substitution - Missense
c.6326C>T; p.P2109L; 17:67940505-67940505	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.7024C>T; p.R2342C; 17:67945732-67945732	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3582T>G; p.S1194S; 17:67911466-67911466	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4044G>A; p.R1348R; 17:67911928-67911928	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2648A>C; p.K883T; 17:67903893-67903893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4574G>T; p.S1525I; 17:67912458-67912458	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6131G>A; p.G2044E; 17:67929468-67929468	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2744A>T; p.H915L; 17:67904772-67904772	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012A>T; p.K338*; 17:67854338-67854338	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.7953T>G; p.I2651M; 17:67959567-67959567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5429-10A>G; p.?; 17:67920005-67920005	liver	carcinoma	Unknown
c.8599G>A; p.V2867M; 17:67975831-67975831	prostate	adenoma	Substitution - Missense
c.647C>T; p.S216F; 17:67853973-67853973	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5429-10A>G; p.?; 17:67920005-67920005	liver	carcinoma	Unknown
c.8669G>T; p.C2890F; 17:67975901-67975901	skin	malignant_melanoma	Substitution - Missense
c.4194A>G; p.K1398K; 17:67912078-67912078	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2637G>A; p.A879A; 17:67903882-67903882	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4897A>C; p.T1633P; 17:67912781-67912781	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5861T>G; p.I1954R; 17:67928464-67928464	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8214G>A; p.K2738K; 17:67959828-67959828	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.6798A>G; p.A2266A; 17:67945506-67945506	liver	carcinoma	Substitution - coding silent
c.7491G>A; p.V2497V; 17:67946199-67946199	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3077C>A; p.S1026*; 17:67910961-67910961	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.8053C>G; p.P2685A; 17:67959667-67959667	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7934T>C; p.L2645P; 17:67959548-67959548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7471A>T; p.T2491S; 17:67946179-67946179	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7151A>G; p.Q2384R; 17:67945859-67945859	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1184T>C; p.V395A; 17:67854510-67854510	pancreas	carcinoma	Substitution - Missense
c.4868C>G; p.S1623C; 17:67912752-67912752	breast	carcinoma	Substitution - Missense
c.8056T>C; p.S2686P; 17:67959670-67959670	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.6230T>G; p.I2077S; 17:67931990-67931990	skin	malignant_melanoma	Substitution - Missense
c.2003A>T; p.Q668L; 17:67891982-67891982	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.5733_5734AG>CC; p.V1912L; 17:67924571-67924572	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5621C>T; p.T1874M; 17:67922903-67922903	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7318C>A; p.Q2440K; 17:67946026-67946026	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3645C>T; p.I1215I; 17:67911529-67911529	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3000G>T; p.K1000N; 17:67910884-67910884	ovary	carcinoma	Substitution - Missense
c.3646G>A; p.D1216N; 17:67911530-67911530	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8654C>T; p.S2885F; 17:67975886-67975886	skin	malignant_melanoma	Substitution - Missense
c.4824C>T; p.G1608G; 17:67912708-67912708	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.8058A>C; p.S2686S; 17:67959672-67959672	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1095G>T; p.Q365H; 17:67854421-67854421	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3128A>T; p.E1043V; 17:67911012-67911012	central_nervous_system; brainstem	glioma; astrocytoma_Grade_II	Substitution - Missense
c.2378C>T; p.S793L; 17:67893692-67893692	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2378C>T; p.S793L; 17:67893692-67893692	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2873_2874insA; p.I961fs*6; 17:67909642-67909643	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.8060C>A; p.P2687H; 17:67959674-67959674	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.8615A>C; p.K2872T; 17:67975847-67975847	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7042delC; p.Q2348fs*63; 17:67945750-67945750	pancreas	carcinoma; acinar_carcinoma	Deletion - Frameshift
c.7953T>A; p.I2651I; 17:67959567-67959567	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.4834A>G; p.T1612A; 17:67912718-67912718	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3702A>C; p.K1234N; 17:67911586-67911586	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.5633C>A; p.T1878N; 17:67922915-67922915	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3422C>T; p.S1141L; 17:67911306-67911306	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5953C>G; p.H1985D; 17:67928556-67928556	bone; femur	chondrosarcoma	Substitution - Missense
c.4269G>A; p.L1423L; 17:67912153-67912153	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.5053C>T; p.R1685*; 17:67912937-67912937	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5053C>T; p.R1685*; 17:67912937-67912937	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5053C>T; p.R1685*; 17:67912937-67912937	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.6637C>T; p.P2213S; 17:67944309-67944309	skin	malignant_melanoma	Substitution - Missense
c.5295C>T; p.I1765I; 17:67913179-67913179	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.6637C>T; p.P2213S; 17:67944309-67944309	skin	malignant_melanoma	Substitution - Missense
c.5053C>T; p.R1685*; 17:67912937-67912937	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4159A>G; p.K1387E; 17:67912043-67912043	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1526A>C; p.K509T; 17:67866553-67866553	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4439G>T; p.S1480I; 17:67912323-67912323	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4497T>C; p.D1499D; 17:67912381-67912381	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4108A>G; p.R1370G; 17:67911992-67911992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2939G>A; p.G980E; 17:67909708-67909708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2939G>A; p.G980E; 17:67909708-67909708	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.6321C>T; p.S2107S; 17:67940500-67940500	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7253C>T; p.P2418L; 17:67945961-67945961	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6321C>T; p.S2107S; 17:67940500-67940500	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3603G>C; p.Q1201H; 17:67911487-67911487	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5347A>T; p.M1783L; 17:67918757-67918757	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2102A>C; p.K701T; 17:67893416-67893416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3749A>G; p.K1250R; 17:67911633-67911633	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1407A>T; p.K469N; 17:67854733-67854733	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3749A>G; p.K1250R; 17:67911633-67911633	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8209_8211delAAG; p.K2738delK; 17:67959823-67959825	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2753G>T; p.R918M; 17:67904781-67904781	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5471G>T; p.R1824M; 17:67920057-67920057	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7406T>G; p.L2469R; 17:67946114-67946114	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2590_2591insA; p.E867fs*23; 17:67903835-67903836	pancreas	carcinoma; acinar_carcinoma	Insertion - Frameshift
c.1376A>G; p.E459G; 17:67854702-67854702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2692G>C; p.E898Q; 17:67904720-67904720	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2521C>T; p.R841*; 17:67894143-67894143	skin	malignant_melanoma	Substitution - Nonsense
c.3979G>A; p.E1327K; 17:67911863-67911863	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.4912C>T; p.P1638S; 17:67912796-67912796	skin	malignant_melanoma	Substitution - Missense
c.1209T>C; p.L403L; 17:67854535-67854535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3159G>T; p.K1053N; 17:67911043-67911043	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6260-10G>C; p.?; 17:67940429-67940429	kidney	other; neoplasm	Unknown
c.463A>G; p.T155A; 17:67826187-67826187	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2590delA; p.E867fs*16; 17:67903835-67903835	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.8520T>A; p.G2840G; 17:67966637-67966637	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.8633G>T; p.R2878L; 17:67975865-67975865	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6914T>C; p.V2305A; 17:67945622-67945622	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.8174A>G; p.K2725R; 17:67959788-67959788	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8633G>T; p.R2878L; 17:67975865-67975865	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4284G>C; p.E1428D; 17:67912168-67912168	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.5107A>G; p.T1703A; 17:67912991-67912991	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5833C>T; p.P1945S; 17:67928436-67928436	thyroid	other; neoplasm	Substitution - Missense
c.2759T>C; p.V920A; 17:67904787-67904787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6856C>G; p.Q2286E; 17:67945564-67945564	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.6693A>C; p.T2231T; 17:67944365-67944365	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4245A>C; p.K1415N; 17:67912129-67912129	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2817A>G; p.K939K; 17:67909586-67909586	skin	malignant_melanoma	Substitution - coding silent
c.3062A>G; p.D1021G; 17:67910946-67910946	liver	carcinoma	Substitution - Missense
c.3062A>G; p.D1021G; 17:67910946-67910946	liver	carcinoma	Substitution - Missense
c.3096G>T; p.E1032D; 17:67910980-67910980	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3062A>G; p.D1021G; 17:67910946-67910946	liver	carcinoma	Substitution - Missense
c.7371G>T; p.Q2457H; 17:67946079-67946079	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7783C>T; p.R2595C; 17:67948163-67948163	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6000C>T; p.G2000G; 17:67929337-67929337	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5004G>A; p.T1668T; 17:67912888-67912888	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6000C>T; p.G2000G; 17:67929337-67929337	breast	carcinoma	Substitution - coding silent
c.8691C>A; p.F2897L; 17:67975923-67975923	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2168G>C; p.R723P; 17:67893482-67893482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2441G>T; p.C814F; 17:67894063-67894063	prostate	carcinoma	Substitution - Missense
c.738C>T; p.V246V; 17:67854064-67854064	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2427G>T; p.K809N; 17:67894049-67894049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6172C>T; p.R2058C; 17:67931932-67931932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7676C>T; p.P2559L; 17:67947784-67947784	skin	malignant_melanoma	Substitution - Missense
c.1281C>G; p.D427E; 17:67854607-67854607	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>T; p.L364L; 17:67854416-67854416	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.8208T>G; p.T2736T; 17:67959822-67959822	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4221A>G; p.I1407M; 17:67912105-67912105	breast	carcinoma	Substitution - Missense
c.671T>C; p.I224T; 17:67853997-67853997	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5128A>T; p.K1710*; 17:67913012-67913012	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5224T>G; p.Y1742D; 17:67913108-67913108	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1419G>A; p.L473L; 17:67854745-67854745	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2867G>A; p.R956Q; 17:67909636-67909636	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1105G>A; p.D369N; 17:67854431-67854431	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.7014_7024del11; p.S2339fs*180; 17:67945722-67945732	liver	carcinoma; hepatocellular_carcinoma	Deletion - Frameshift
c.1856A>T; p.K619I; 17:67875012-67875012	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1747A>G; p.T583A; 17:67874903-67874903	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1856A>T; p.K619I; 17:67875012-67875012	stomach	adenocarcinoma	Substitution - Missense
c.5937A>G; p.Q1979Q; 17:67928540-67928540	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.5474G>T; p.R1825I; 17:67920060-67920060	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4081C>T; p.P1361S; 17:67911965-67911965	oesophagus	carcinoma	Substitution - Missense
c.7770delA; p.K2592fs*36; 17:67948150-67948150	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.6722G>A; p.S2241N; 17:67945430-67945430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7054C>T; p.R2352C; 17:67945762-67945762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.7127C>T; p.P2376L; 17:67945835-67945835	skin	malignant_melanoma	Substitution - Missense
c.2501T>C; p.V834A; 17:67894123-67894123	skin	malignant_melanoma	Substitution - Missense
c.7054C>T; p.R2352C; 17:67945762-67945762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8603C>T; p.A2868V; 17:67975835-67975835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5170C>T; p.P1724S; 17:67913054-67913054	skin; extremity	malignant_melanoma	Substitution - Missense
c.2908G>C; p.D970H; 17:67909677-67909677	breast	carcinoma	Substitution - Missense
c.2014G>A; p.A672T; 17:67891993-67891993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4991C>T; p.S1664F; 17:67912875-67912875	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1746G>A; p.E582E; 17:67874902-67874902	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1276G>A; p.E426K; 17:67854602-67854602	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.3959G>T; p.R1320I; 17:67911843-67911843	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2895T>G; p.P965P; 17:67909664-67909664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8022A>T; p.T2674T; 17:67959636-67959636	liver	carcinoma	Substitution - coding silent
c.2168G>A; p.R723H; 17:67893482-67893482	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8235C>T; p.I2745I; 17:67959849-67959849	liver	carcinoma	Substitution - coding silent
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.753G>A; p.E251E; 17:67854079-67854079	prostate	carcinoma	Substitution - coding silent
c.8235C>T; p.I2745I; 17:67959849-67959849	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.8022A>T; p.T2674T; 17:67959636-67959636	liver	carcinoma	Substitution - coding silent
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8028_8029insCCTCCAGCC; p.P2684_P2685insAPP; 17:67959642-67959643	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.8099C>T; p.S2700F; 17:67959713-67959713	skin	malignant_melanoma	Substitution - Missense
c.2969A>C; p.K990T; 17:67909738-67909738	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.8239A>C; p.K2747Q; 17:67959853-67959853	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3658C>T; p.L1220L; 17:67911542-67911542	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.5110G>A; p.A1704T; 17:67912994-67912994	pancreas	carcinoma	Substitution - Missense
c.3729C>T; p.D1243D; 17:67911613-67911613	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2032A>G; p.K678E; 17:67892011-67892011	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2048G>A; p.G683D; 17:67892027-67892027	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3936T>C; p.N1312N; 17:67911820-67911820	pancreas	carcinoma; adenocarcinoma	Substitution - coding silent
c.2578A>G; p.K860E; 17:67903823-67903823	skin	malignant_melanoma	Substitution - Missense
c.5342G>A; p.S1781N; 17:67918752-67918752	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2966C>G; p.S989*; 17:67909735-67909735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7363C>T; p.Q2455*; 17:67946071-67946071	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.5594G>T; p.S1865I; 17:67922876-67922876	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5601G>A; p.L1867L; 17:67922883-67922883	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7974G>A; p.M2658I; 17:67959588-67959588	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.5291G>A; p.G1764D; 17:67913175-67913175	liver	carcinoma	Substitution - Missense
c.2033A>C; p.K678T; 17:67892012-67892012	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7450C>T; p.H2484Y; 17:67946158-67946158	urinary_tract; bladder	carcinoma	Substitution - Missense
c.5291G>A; p.G1764D; 17:67913175-67913175	liver	carcinoma	Substitution - Missense
c.6666_6668delCAC; p.T2227delT; 17:67944338-67944340	skin	malignant_melanoma	Deletion - In frame
c.5054G>A; p.R1685Q; 17:67912938-67912938	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6666_6668delCAC; p.T2227delT; 17:67944338-67944340	skin	malignant_melanoma	Deletion - In frame
c.6448G>C; p.A2150P; 17:67940627-67940627	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.8444G>T; p.R2815L; 17:67964394-67964394	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2295G>T; p.W765C; 17:67893609-67893609	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5832T>A; p.S1944S; 17:67928435-67928435	thyroid	other; neoplasm	Substitution - coding silent
c.5003C>T; p.T1668M; 17:67912887-67912887	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5710G>A; p.V1904M; 17:67924548-67924548	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.7898T>C; p.L2633P; 17:67948278-67948278	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.6769C>T; p.P2257S; 17:67945477-67945477	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3540G>A; p.P1180P; 17:67911424-67911424	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2758G>C; p.V920L; 17:67904786-67904786	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.7777C>T; p.R2593W; 17:67948157-67948157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5223T>A; p.P1741P; 17:67913107-67913107	prostate	carcinoma	Substitution - coding silent
c.6673A>C; p.T2225P; 17:67944345-67944345	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6673A>C; p.T2225P; 17:67944345-67944345	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.7800G>C; p.E2600D; 17:67948180-67948180	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.3526G>A; p.E1176K; 17:67911410-67911410	urinary_tract; bladder	carcinoma	Substitution - Missense
c.797G>A; p.R266H; 17:67854123-67854123	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3817A>G; p.M1273V; 17:67911701-67911701	thyroid	carcinoma	Substitution - Missense
c.5922T>C; p.A1974A; 17:67928525-67928525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.8583A>G; p.E2861E; 17:67975815-67975815	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5227T>C; p.F1743L; 17:67913111-67913111	skin	malignant_melanoma	Substitution - Missense
c.1513G>A; p.D505N; 17:67866540-67866540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.8140G>A; p.E2714K; 17:67959754-67959754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3091C>A; p.Q1031K; 17:67910975-67910975	urinary_tract; bladder	carcinoma	Substitution - Missense
c.6156C>T; p.I2052I; 17:67931916-67931916	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3101C>T; p.S1034F; 17:67910985-67910985	skin	malignant_melanoma	Substitution - Missense
c.3687G>T; p.L1229F; 17:67911571-67911571	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3750G>T; p.K1250N; 17:67911634-67911634	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.5404C>T; p.P1802S; 17:67918814-67918814	breast	carcinoma	Substitution - Missense
c.644G>A; p.R215H; 17:67853970-67853970	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.7568G>A; p.R2523H; 17:67946276-67946276	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.4506G>A; p.E1502E; 17:67912390-67912390	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.7568G>A; p.R2523H; 17:67946276-67946276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427_429delGAG; p.E148delE; 17:67826151-67826153	breast	carcinoma	Deletion - In frame
c.572A>T; p.E191V; 17:67826296-67826296	skin	malignant_melanoma	Substitution - Missense
c.427_429delGAG; p.E148delE; 17:67826151-67826153	NS	malignant_melanoma	Deletion - In frame
c.1804C>T; p.L602F; 17:67874960-67874960	skin	malignant_melanoma	Substitution - Missense
c.6918A>G; p.S2306S; 17:67945626-67945626	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.7905G>T; p.K2635N; 17:67948285-67948285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.863T>C; p.V288A; 17:67854189-67854189	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3069A>C; p.K1023N; 17:67910953-67910953	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2597A>G; p.K866R; 17:67903842-67903842	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3069A>C; p.K1023N; 17:67910953-67910953	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1264_1266delGAG; p.E423delE; 17:67854590-67854592	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - In frame
c.5184A>G; p.L1728L; 17:67913068-67913068	skin	malignant_melanoma	Substitution - coding silent
c.2930C>T; p.A977V; 17:67909699-67909699	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8679T>C; p.V2893V; 17:67975911-67975911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3293C>A; p.S1098Y; 17:67911177-67911177	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2341A>G; p.R781G; 17:67893655-67893655	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.8594A>C; p.E2865A; 17:67975826-67975826	liver	carcinoma	Substitution - Missense
c.2455G>T; p.E819*; 17:67894077-67894077	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7010G>C; p.G2337A; 17:67945718-67945718	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2455G>T; p.E819*; 17:67894077-67894077	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2377T>C; p.S793P; 17:67893691-67893691	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2311G>C; p.G771R; 17:67893625-67893625	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4907C>T; p.S1636F; 17:67912791-67912791	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3943delA; p.I1315fs*18; 17:67911827-67911827	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.1161A>C; p.I387I; 17:67854487-67854487	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7907A>T; p.D2636V; 17:67948287-67948287	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5498G>A; p.R1833Q; 17:67920084-67920084	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.7704G>A; p.M2568I; 17:67948084-67948084	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5308A>G; p.R1770G; 17:67918718-67918718	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3884C>T; p.T1295I; 17:67911768-67911768	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3327G>A; p.T1109T; 17:67911211-67911211	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.751G>A; p.E251K; 17:67854077-67854077	breast	carcinoma	Substitution - Missense
c.3642C>T; p.F1214F; 17:67911526-67911526	skin	malignant_melanoma	Substitution - coding silent
c.7760A>T; p.K2587I; 17:67948140-67948140	liver	carcinoma	Substitution - Missense
c.7760A>T; p.K2587I; 17:67948140-67948140	liver	carcinoma	Substitution - Missense
c.7171C>T; p.P2391S; 17:67945879-67945879	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.8029C>T; p.P2677S; 17:67959643-67959643	skin	malignant_melanoma	Substitution - Missense
c.427G>T; p.E143*; 17:67826151-67826151	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.6046A>G; p.T2016A; 17:67929383-67929383	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4943C>T; p.S1648F; 17:67912827-67912827	skin	malignant_melanoma	Substitution - Missense
c.8305C>T; p.R2769C; 17:67964255-67964255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5960C>T; p.T1987I; 17:67928563-67928563	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5212C>T; p.R1738*; 17:67913096-67913096	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.4388G>T; p.R1463M; 17:67912272-67912272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2234_2236delATG; p.D746delD; 17:67893548-67893550	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.7933C>A; p.L2645M; 17:67959547-67959547	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.8482G>C; p.E2828Q; 17:67966599-67966599	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2552G>A; p.R851Q; 17:67903797-67903797	central_nervous_system; brain	glioma	Substitution - Missense
c.3493C>T; p.R1165*; 17:67911377-67911377	skin; arm	malignant_melanoma	Substitution - Nonsense
c.3493C>T; p.R1165*; 17:67911377-67911377	skin	malignant_melanoma	Substitution - Nonsense
c.643C>A; p.R215S; 17:67853969-67853969	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7422A>C; p.Q2474H; 17:67946130-67946130	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.702G>T; p.E234D; 17:67854028-67854028	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2874delA; p.I961fs*1; 17:67909643-67909643	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2169C>T; p.R723R; 17:67893483-67893483	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2874delA; p.I961fs*1; 17:67909643-67909643	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3785A>G; p.N1262S; 17:67911669-67911669	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.586A>G; p.S196G; 17:67826310-67826310	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5225A>T; p.Y1742F; 17:67913109-67913109	skin	malignant_melanoma	Substitution - Missense
c.6729G>A; p.L2243L; 17:67945437-67945437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.849G>T; p.M283I; 17:67854175-67854175	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2308C>T; p.H770Y; 17:67893622-67893622	skin	malignant_melanoma	Substitution - Missense
c.6368C>T; p.S2123L; 17:67940547-67940547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5118A>G; p.P1706P; 17:67913002-67913002	skin	malignant_melanoma	Substitution - coding silent
c.6368C>T; p.S2123L; 17:67940547-67940547	breast	carcinoma	Substitution - Missense
c.1765G>C; p.D589H; 17:67874921-67874921	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.6892G>T; p.E2298*; 17:67945600-67945600	thyroid	carcinoma	Substitution - Nonsense
c.6702T>C; p.G2234G; 17:67945410-67945410	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.7776_7777insA; p.R2593fs*4; 17:67948156-67948157	prostate	carcinoma	Insertion - Frameshift
c.7094C>T; p.S2365F; 17:67945802-67945802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1328C>T; p.T443I; 17:67854654-67854654	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4976C>T; p.T1659M; 17:67912860-67912860	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.8444G>A; p.R2815H; 17:67964394-67964394	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7016C>T; p.S2339F; 17:67945724-67945724	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.6308C>T; p.S2103F; 17:67940487-67940487	skin	malignant_melanoma	Substitution - Missense
c.2762C>T; p.P921L; 17:67904790-67904790	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.853G>A; p.E285K; 17:67854179-67854179	skin	malignant_melanoma	Substitution - Missense
c.5497C>T; p.R1833*; 17:67920083-67920083	skin	malignant_melanoma	Substitution - Nonsense
c.8233A>T; p.I2745F; 17:67959847-67959847	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.977G>A; p.W326*; 17:67854303-67854303	skin	malignant_melanoma	Substitution - Nonsense
c.977G>A; p.W326*; 17:67854303-67854303	skin	malignant_melanoma	Substitution - Nonsense
c.2034_2041ATTATTTA>12; p.K678fs; 17:67892013-67892020	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.2034_2041ATTATTTA>12; p.K678fs; 17:67892013-67892020	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Complex
c.3058G>A; p.D1020N; 17:67910942-67910942	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5295C>A; p.I1765I; 17:67913179-67913179	breast	carcinoma	Substitution - coding silent
c.7330G>T; p.V2444F; 17:67946038-67946038	pancreas	carcinoma	Substitution - Missense
c.3514A>G; p.I1172V; 17:67911398-67911398	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3514A>G; p.I1172V; 17:67911398-67911398	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1822G>T; p.D608Y; 17:67874978-67874978	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.6738G>A; p.Q2246Q; 17:67945446-67945446	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.597C>A; p.T199T; 17:67826321-67826321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.4241C>T; p.P1414L; 17:67912125-67912125	skin	malignant_melanoma	Substitution - Missense
c.5288T>G; p.F1763C; 17:67913172-67913172	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.5576G>T; p.R1859M; 17:67922858-67922858	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5288T>G; p.F1763C; 17:67913172-67913172	liver	carcinoma	Substitution - Missense
c.8028T>C; p.A2676A; 17:67959642-67959642	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.7975C>G; p.Q2659E; 17:67959589-67959589	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2282G>A; p.G761E; 17:67893596-67893596	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5314C>T; p.Q1772*; 17:67918724-67918724	skin	malignant_melanoma	Substitution - Nonsense
c.5514C>G; p.I1838M; 17:67920100-67920100	breast	carcinoma	Substitution - Missense
c.3828A>T; p.E1276D; 17:67911712-67911712	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5425A>T; p.T1809S; 17:67918835-67918835	skin	malignant_melanoma	Substitution - Missense
c.4442C>G; p.S1481C; 17:67912326-67912326	breast	carcinoma	Substitution - Missense
c.6194G>C; p.R2065T; 17:67931954-67931954	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1233A>G; p.V411V; 17:67854559-67854559	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.6194G>C; p.R2065T; 17:67931954-67931954	breast	carcinoma	Substitution - Missense
c.5316G>C; p.Q1772H; 17:67918726-67918726	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7778G>A; p.R2593Q; 17:67948158-67948158	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1061A>T; p.Y354F; 17:67854387-67854387	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2725A>G; p.S909G; 17:67904753-67904753	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.5216A>G; p.E1739G; 17:67913100-67913100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3666T>G; p.S1222R; 17:67911550-67911550	skin	malignant_melanoma	Substitution - Missense
c.2230G>C; p.D744H; 17:67893544-67893544	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.3764C>T; p.S1255L; 17:67911648-67911648	skin	malignant_melanoma	Substitution - Missense
c.8654_8655CC>TT; p.S2885>?; 17:67975886-67975887	NS	malignant_melanoma	Complex
c.7571A>G; p.E2524G; 17:67946279-67946279	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.7926+9G>A; p.?; 17:67948315-67948315	breast	carcinoma	Unknown
c.2910T>C; p.D970D; 17:67909679-67909679	liver	carcinoma	Substitution - coding silent
c.2910T>C; p.D970D; 17:67909679-67909679	liver	carcinoma	Substitution - coding silent
c.3159G>A; p.K1053K; 17:67911043-67911043	skin; upper_arm	malignant_melanoma	Substitution - coding silent
c.2543+2T>C; p.?; 17:67894167-67894167	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.6087G>T; p.R2029S; 17:67929424-67929424	breast	carcinoma	Substitution - Missense
c.2765A>G; p.K922R; 17:67904793-67904793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.7667G>A; p.S2556N; 17:67947775-67947775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.6649A>G; p.T2217A; 17:67944321-67944321	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.5388G>T; p.M1796I; 17:67918798-67918798	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.4095G>T; p.K1365N; 17:67911979-67911979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5388G>T; p.M1796I; 17:67918798-67918798	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.5878A>T; p.T1960S; 17:67928481-67928481	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2737A>C; p.K913Q; 17:67904765-67904765	liver	carcinoma	Substitution - Missense
c.6752A>G; p.Q2251R; 17:67945460-67945460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.8762A>C; p.*2921S; 17:67982287-67982287	pancreas	carcinoma	Nonstop extension
c.5785G>A; p.A1929T; 17:67928388-67928388	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5831C>G; p.S1944C; 17:67928434-67928434	thyroid	other; neoplasm	Substitution - Missense
c.8152G>T; p.D2718Y; 17:67959766-67959766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4188A>T; p.E1396D; 17:67912072-67912072	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.810T>C; p.F270F; 17:67854136-67854136	breast	carcinoma	Substitution - coding silent
c.8592G>T; p.T2864T; 17:67975824-67975824	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.8592G>T; p.T2864T; 17:67975824-67975824	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1756G>C; p.D586H; 17:67874912-67874912	thyroid	carcinoma	Substitution - Missense
c.8592G>T; p.T2864T; 17:67975824-67975824	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.5848A>G; p.M1950V; 17:67928451-67928451	liver	carcinoma	Substitution - Missense
c.5848A>G; p.M1950V; 17:67928451-67928451	liver	carcinoma	Substitution - Missense
c.6199C>T; p.P2067S; 17:67931959-67931959	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2524G>A; p.E842K; 17:67894146-67894146	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.5437G>A; p.E1813K; 17:67920023-67920023	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.394_396delGAG; p.E138delE; 17:67826118-67826120	autonomic_ganglia	neuroblastoma	Deletion - In frame
c.2299G>C; p.G767R; 17:67893613-67893613	kidney	other; neoplasm	Substitution - Missense
c.5870C>T; p.S1957L; 17:67928473-67928473	oesophagus	carcinoma	Substitution - Missense
c.4570G>A; p.E1524K; 17:67912454-67912454	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1627G>A; p.G543S; 17:67866654-67866654	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1348C>T; p.Q450*; 17:67854674-67854674	skin	malignant_melanoma	Substitution - Nonsense
c.5709-8T>A; p.?; 17:67924539-67924539	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.4474G>A; p.D1492N; 17:67912358-67912358	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3983T>G; p.V1328G; 17:67911867-67911867	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation