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	23328
Symbol	SASH1
Synonymous	SH3D6A\|dJ323M4\|dJ323M4.1
Full name	SAM and SH3 domain containing 1
Gene description	2500002E12Rik\|SAM and SH3 domain-containing protein 1\|proline-glutamate repeat-containing protein
Cytoband	6q24.3
Gene type	protein-coding
Synonymous	MIM:607955; HGNC:HGNC:19182; Ensembl:ENSG00000111961; HPRD:06408; Vega:OTTHUMG00000015773

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.2973G>A; p.K991K; 6:148544443-148544443	skin	malignant_melanoma	Substitution - coding silent
c.2041C>T; p.P681S; 6:148534847-148534847	skin	malignant_melanoma	Substitution - Missense
c.273G>A; p.Q91Q; 6:148390250-148390250	skin	malignant_melanoma	Substitution - coding silent
c.1992C>G; p.T664T; 6:148534798-148534798	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.229G>A; p.V77M; 6:148390206-148390206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3472C>T; p.R1158C; 6:148546138-148546138	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.3072_3080delCAGCCCCGC; p.A1027_P1029delASP; 6:148544542-148544550	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.476G>A; p.R159Q; 6:148471465-148471465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3472C>A; p.R1158S; 6:148546138-148546138	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.476G>A; p.R159Q; 6:148471465-148471465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3195C>T; p.P1065P; 6:148544665-148544665	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2459G>A; p.R820Q; 6:148543929-148543929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.476G>A; p.R159Q; 6:148471465-148471465	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1735-1G>T; p.?; 6:148533770-148533770	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2850C>T; p.G950G; 6:148544320-148544320	skin	malignant_melanoma	Substitution - coding silent
c.992C>T; p.S331F; 6:148519676-148519676	skin	malignant_melanoma	Substitution - Missense
c.1673G>A; p.R558H; 6:148532905-148532905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.997A>G; p.T333A; 6:148519681-148519681	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3099C>T; p.S1033S; 6:148544569-148544569	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3099C>T; p.S1033S; 6:148544569-148544569	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3723G>A; p.P1241P; 6:148548537-148548537	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3031C>T; p.L1011F; 6:148544501-148544501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.805C>G; p.R269G; 6:148514399-148514399	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2984G>A; p.R995H; 6:148544454-148544454	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2774C>G; p.P925R; 6:148544244-148544244	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>T; p.D230Y; 6:148487674-148487674	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.1648C>T; p.P550S; 6:148532880-148532880	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2521G>T; p.D841Y; 6:148543991-148543991	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2259C>G; p.P753P; 6:148543729-148543729	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3020C>T; p.P1007L; 6:148544490-148544490	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2457C>T; p.C819C; 6:148543927-148543927	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.309G>A; p.T103T; 6:148440207-148440207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2467G>A; p.E823K; 6:148543937-148543937	breast	carcinoma	Substitution - Missense
c.476G>T; p.R159L; 6:148471465-148471465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2478G>A; p.E826E; 6:148543948-148543948	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1854G>T; p.E618D; 6:148533890-148533890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.908G>T; p.R303L; 6:148519592-148519592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1473G>A; p.Q491Q; 6:148531570-148531570	liver	carcinoma	Substitution - coding silent
c.1713C>T; p.D571D; 6:148532945-148532945	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1806C>T; p.V602V; 6:148533842-148533842	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.729+4A>G; p.?; 6:148487719-148487719	liver	carcinoma	Unknown
c.729+4A>G; p.?; 6:148487719-148487719	liver	carcinoma	Unknown
c.3275A>T; p.D1092V; 6:148544745-148544745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.85C>T; p.P29S; 6:148343152-148343152	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.635A>G; p.E212G; 6:148487621-148487621	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3602C>T; p.A1201V; 6:148548416-148548416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2483C>T; p.P828L; 6:148543953-148543953	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.234C>T; p.C78C; 6:148390211-148390211	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2458C>G; p.R820G; 6:148543928-148543928	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2034C>T; p.I678I; 6:148534840-148534840	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.2034C>T; p.I678I; 6:148534840-148534840	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3452A>G; p.K1151R; 6:148546118-148546118	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1168G>T; p.E390*; 6:148519852-148519852	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1191C>T; p.L397L; 6:148519875-148519875	prostate	adenoma	Substitution - coding silent
c.1191C>T; p.L397L; 6:148519875-148519875	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191C>T; p.L397L; 6:148519875-148519875	breast	carcinoma	Substitution - coding silent
c.1576G>C; p.V526L; 6:148532808-148532808	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3088A>C; p.T1030P; 6:148544558-148544558	breast	carcinoma	Substitution - Missense
c.3048G>A; p.A1016A; 6:148544518-148544518	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3524C>T; p.S1175F; 6:148548338-148548338	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3524C>T; p.S1175F; 6:148548338-148548338	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2985C>T; p.R995R; 6:148544455-148544455	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1117_1124delTTCTCCTA; p.F373fs*37; 6:148519801-148519808	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.3460C>T; p.R1154W; 6:148546126-148546126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1607G>A; p.R536Q; 6:148532839-148532839	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2037G>A; p.R679R; 6:148534843-148534843	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1368A>G; p.S456S; 6:148527536-148527536	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2064G>T; p.L688F; 6:148534870-148534870	large_intestine	adenoma	Substitution - Missense
c.2702C>A; p.S901Y; 6:148544172-148544172	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3122C>T; p.P1041L; 6:148544592-148544592	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1639G>A; p.E547K; 6:148532871-148532871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2446G>A; p.V816I; 6:148543916-148543916	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1482C>T; p.P494P; 6:148531579-148531579	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.567G>A; p.R189R; 6:148474162-148474162	liver	carcinoma	Substitution - coding silent
c.1535G>A; p.R512H; 6:148531632-148531632	breast	carcinoma	Substitution - Missense
c.1898C>T; p.P633L; 6:148533934-148533934	skin	malignant_melanoma	Substitution - Missense
c.2711A>G; p.Q904R; 6:148544181-148544181	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1035G>C; p.G345G; 6:148519719-148519719	ovary	other; neoplasm	Substitution - coding silent
c.1759A>G; p.S587G; 6:148533795-148533795	skin	malignant_melanoma	Substitution - Missense
c.1944+8G>A; p.?; 6:148533988-148533988	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.845A>T; p.K282I; 6:148514439-148514439	liver	carcinoma	Substitution - Missense
c.844delA; p.K283fs*80; 6:148514438-148514438	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2020G>A; p.D674N; 6:148534826-148534826	skin; trunk	malignant_melanoma	Substitution - Missense
c.1297G>A; p.D433N; 6:148527465-148527465	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2307G>A; p.L769L; 6:148543777-148543777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3243G>C; p.L1081F; 6:148544713-148544713	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3341C>A; p.S1114Y; 6:148544811-148544811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.660G>A; p.S220S; 6:148487646-148487646	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3310G>A; p.E1104K; 6:148544780-148544780	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2866G>A; p.E956K; 6:148544336-148544336	thyroid	other; neoplasm	Substitution - Missense
c.2512C>T; p.H838Y; 6:148543982-148543982	skin; neck	malignant_melanoma	Substitution - Missense
c.2866G>A; p.E956K; 6:148544336-148544336	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.555C>T; p.S185S; 6:148474150-148474150	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.420C>T; p.S140S; 6:148468578-148468578	liver	carcinoma	Substitution - coding silent
c.555C>T; p.S185S; 6:148474150-148474150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1812G>A; p.T604T; 6:148533848-148533848	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.420C>T; p.S140S; 6:148468578-148468578	liver	carcinoma	Substitution - coding silent
c.2823C>T; p.H941H; 6:148544293-148544293	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2823C>T; p.H941H; 6:148544293-148544293	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2293A>G; p.N765D; 6:148543763-148543763	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2714A>C; p.K905T; 6:148544184-148544184	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1464G>A; p.P488P; 6:148531561-148531561	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1348C>G; p.L450V; 6:148527516-148527516	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2042C>T; p.P681L; 6:148534848-148534848	skin	malignant_melanoma	Substitution - Missense
c.337G>A; p.E113K; 6:148440358-148440358	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.264G>T; p.R88R; 6:148390241-148390241	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2361G>T; p.L787L; 6:148543831-148543831	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.337G>T; p.E113*; 6:148440358-148440358	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3519C>T; p.P1173P; 6:148548333-148548333	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1849G>A; p.E617K; 6:148533885-148533885	breast	carcinoma	Substitution - Missense
c.206A>T; p.Y69F; 6:148390183-148390183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1242G>A; p.T414T; 6:148525323-148525323	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1419C>A; p.V473V; 6:148527587-148527587	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.862+1G>C; p.?; 6:148514457-148514457	prostate	carcinoma	Unknown
c.823C>G; p.L275V; 6:148514417-148514417	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2507G>A; p.R836Q; 6:148543977-148543977	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.425_426insA; p.G143fs*10; 6:148468583-148468584	liver	carcinoma	Insertion - Frameshift
c.3355C>T; p.R1119C; 6:148546021-148546021	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1108G>T; p.G370W; 6:148519792-148519792	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3003C>T; p.H1001H; 6:148544473-148544473	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2143C>T; p.Q715*; 6:148540490-148540490	skin	malignant_melanoma	Substitution - Nonsense
c.3512G>A; p.R1171Q; 6:148548326-148548326	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3500C>T; p.T1167M; 6:148548314-148548314	liver	carcinoma	Substitution - Missense
c.3010C>T; p.P1004S; 6:148544480-148544480	skin; trunk	malignant_melanoma	Substitution - Missense
c.1043G>T; p.R348L; 6:148519727-148519727	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1646C>T; p.P549L; 6:148532878-148532878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.195G>C; p.Q65H; 6:148390172-148390172	liver	carcinoma	Substitution - Missense
c.195G>C; p.Q65H; 6:148390172-148390172	liver	carcinoma	Substitution - Missense
c.2837C>T; p.T946M; 6:148544307-148544307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	thyroid	other; neoplasm	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	thyroid	other; neoplasm	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	thyroid	other; neoplasm	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2184C>T; p.Y728Y; 6:148540531-148540531	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.266T>G; p.V89G; 6:148390243-148390243	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3421G>A; p.V1141I; 6:148546087-148546087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2385G>A; p.T795T; 6:148543855-148543855	stomach	adenocarcinoma	Substitution - coding silent
c.3047C>T; p.A1016V; 6:148544517-148544517	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3047C>T; p.A1016V; 6:148544517-148544517	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.295G>A; p.D99N; 6:148440193-148440193	pancreas	carcinoma	Substitution - Missense
c.295G>A; p.D99N; 6:148440193-148440193	pancreas	carcinoma	Substitution - Missense
c.2052A>C; p.R684S; 6:148534858-148534858	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.295G>A; p.D99N; 6:148440193-148440193	pancreas	carcinoma	Substitution - Missense
c.1235A>G; p.D412G; 6:148525316-148525316	liver	carcinoma	Substitution - Missense
c.1235A>G; p.D412G; 6:148525316-148525316	liver	carcinoma	Substitution - Missense
c.1170_1171insG; p.E392fs*21; 6:148519854-148519855	pancreas	carcinoma; acinar_carcinoma	Insertion - Frameshift
c.3135A>G; p.S1045S; 6:148544605-148544605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1534C>T; p.R512C; 6:148531631-148531631	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.432A>G; p.K144K; 6:148471421-148471421	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1367C>T; p.S456L; 6:148527535-148527535	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2881C>T; p.H961Y; 6:148544351-148544351	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.480G>T; p.K160N; 6:148471469-148471469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3565A>G; p.I1189V; 6:148548379-148548379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.231G>A; p.V77V; 6:148390208-148390208	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3172delC; p.W1060fs*16; 6:148544642-148544642	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3172delC; p.W1060fs*16; 6:148544642-148544642	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.157-2A>G; p.?; 6:148390132-148390132	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2655_2656delCT; p.S886fs*16; 6:148544125-148544126	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.885G>A; p.E295E; 6:148519569-148519569	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3319G>A; p.D1107N; 6:148544789-148544789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3415C>T; p.R1139W; 6:148546081-148546081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.838G>T; p.E280*; 6:148514432-148514432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.144G>T; p.V48V; 6:148343211-148343211	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3415C>T; p.R1139W; 6:148546081-148546081	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1043G>A; p.R348Q; 6:148519727-148519727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.240G>C; p.R80S; 6:148390217-148390217	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1900C>T; p.Q634*; 6:148533936-148533936	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.2651A>G; p.Q884R; 6:148544121-148544121	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2651A>G; p.Q884R; 6:148544121-148544121	thyroid	other; neoplasm	Substitution - Missense
c.3204A>G; p.T1068T; 6:148544674-148544674	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1252C>T; p.L418L; 6:148525333-148525333	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1252C>T; p.L418L; 6:148525333-148525333	liver	carcinoma	Substitution - coding silent
c.3078C>T; p.P1026P; 6:148544548-148544548	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1653C>T; p.Y551Y; 6:148532885-148532885	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2098A>T; p.N700Y; 6:148540445-148540445	breast	carcinoma	Substitution - Missense
c.3701C>T; p.A1234V; 6:148548515-148548515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2636C>T; p.A879V; 6:148544106-148544106	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.569T>G; p.I190S; 6:148474164-148474164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1435G>T; p.G479C; 6:148531532-148531532	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.913G>A; p.A305T; 6:148519597-148519597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2270C>A; p.S757Y; 6:148543740-148543740	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.912C>T; p.S304S; 6:148519596-148519596	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2149C>T; p.L717L; 6:148540496-148540496	skin	malignant_melanoma	Substitution - coding silent
c.143T>C; p.V48A; 6:148343210-148343210	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2579C>T; p.P860L; 6:148544049-148544049	pancreas	carcinoma	Substitution - Missense
c.2664C>T; p.V888V; 6:148544134-148544134	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1734+4_1734+5delTC; p.?; 6:148532970-148532971	stomach	adenocarcinoma	Unknown
c.2218C>T; p.R740W; 6:148543688-148543688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2980G>T; p.E994*; 6:148544450-148544450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2218C>T; p.R740W; 6:148543688-148543688	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2995G>A; p.G999R; 6:148544465-148544465	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1379C>T; p.T460M; 6:148527547-148527547	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.2168G>A; p.R723Q; 6:148540515-148540515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2168G>A; p.R723Q; 6:148540515-148540515	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.316C>T; p.Q106*; 6:148440214-148440214	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.316C>T; p.Q106*; 6:148440214-148440214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1669G>A; p.G557R; 6:148532901-148532901	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1669G>A; p.G557R; 6:148532901-148532901	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1669G>A; p.G557R; 6:148532901-148532901	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.316C>T; p.Q106*; 6:148440214-148440214	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2736G>T; p.E912D; 6:148544206-148544206	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.632_634delAGG; p.E212delE; 6:148487618-148487620	endometrium	carcinoma; endometrioid_carcinoma	Deletion - In frame
c.3326C>T; p.T1109M; 6:148544796-148544796	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3171G>A; p.P1057P; 6:148544641-148544641	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1565G>A; p.S522N; 6:148532797-148532797	skin	malignant_melanoma	Substitution - Missense
c.2653G>T; p.D885Y; 6:148544123-148544123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1157G>A; p.R386H; 6:148519841-148519841	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1257C>T; p.H419H; 6:148525338-148525338	large_intestine; rectum	NS	Substitution - coding silent
c.2410G>A; p.V804M; 6:148543880-148543880	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2759G>A; p.R920H; 6:148544229-148544229	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1698C>T; p.T566T; 6:148532930-148532930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.342G>A; p.S114S; 6:148440363-148440363	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.918C>G; p.L306L; 6:148519602-148519602	thyroid	carcinoma	Substitution - coding silent
c.945T>C; p.L315L; 6:148519629-148519629	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2646G>T; p.L882L; 6:148544116-148544116	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.630C>G; p.L210L; 6:148487616-148487616	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.262_263insG; p.V89fs*13; 6:148390239-148390240	liver	carcinoma	Insertion - Frameshift
c.262_263insG; p.V89fs*13; 6:148390239-148390240	lung	carcinoid-endocrine_tumour	Insertion - Frameshift
c.262_263insG; p.V89fs*13; 6:148390239-148390240	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Insertion - Frameshift
c.492A>G; p.G164G; 6:148471481-148471481	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.640G>A; p.E214K; 6:148487626-148487626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.492A>G; p.G164G; 6:148471481-148471481	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1672C>T; p.R558C; 6:148532904-148532904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.39_40insGAGCCC; p.P23_A24insEP; 6:148343106-148343107	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.2450C>T; p.S817F; 6:148543920-148543920	skin; extremity	malignant_melanoma	Substitution - Missense
c.3167G>A; p.R1056K; 6:148544637-148544637	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2690G>T; p.S897I; 6:148544160-148544160	pancreas	carcinoma	Substitution - Missense
c.1014C>T; p.S338S; 6:148519698-148519698	skin	malignant_melanoma	Substitution - coding silent
c.2599G>C; p.E867Q; 6:148544069-148544069	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2133C>T; p.L711L; 6:148540480-148540480	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.765G>C; p.S255S; 6:148514359-148514359	breast	carcinoma	Substitution - coding silent
c.2983C>T; p.R995C; 6:148544453-148544453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3733G>C; p.E1245Q; 6:148548547-148548547	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.228C>T; p.D76D; 6:148390205-148390205	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1419C>G; p.V473V; 6:148527587-148527587	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.714C>T; p.G238G; 6:148487700-148487700	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.920A>G; p.Y307C; 6:148519604-148519604	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2458C>T; p.R820W; 6:148543928-148543928	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.920A>G; p.Y307C; 6:148519604-148519604	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.3423C>T; p.V1141V; 6:148546089-148546089	breast	carcinoma	Substitution - coding silent
c.2777A>G; p.Q926R; 6:148544247-148544247	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3423C>T; p.V1141V; 6:148546089-148546089	liver	carcinoma	Substitution - coding silent
c.2057T>G; p.V686G; 6:148534863-148534863	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.862G>A; p.G288S; 6:148514456-148514456	thyroid	other; neoplasm	Substitution - Missense
c.2357G>T; p.R786M; 6:148543827-148543827	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1261G>T; p.G421C; 6:148525342-148525342	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3611G>C; p.S1204T; 6:148548425-148548425	large_intestine; colon	NS	Substitution - Missense
c.956G>A; p.G319D; 6:148519640-148519640	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3608T>G; p.F1203C; 6:148548422-148548422	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3520G>A; p.V1174I; 6:148548334-148548334	pancreas	carcinoma	Substitution - Missense
c.3520G>A; p.V1174I; 6:148548334-148548334	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.272delA; p.Q91fs*52; 6:148390249-148390249	lung	carcinoid-endocrine_tumour	Deletion - Frameshift
c.3608T>G; p.F1203C; 6:148548422-148548422	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1618A>G; p.K540E; 6:148532850-148532850	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation