Entrez Gene

Basic Information
Gene ID	1441
Name	CSF3R
Synonymous	colony stimulating factor 3 receptor (granulocyte);CSF3R;colony stimulating factor 3 receptor (granulocyte)
Definition	CD114 antigen\|G-CSF receptor\|G-CSF-R\|granulocyte colony-stimulating factor receptor
Position	1p35-p34.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.1683C>T; p.H561H; 1:36468115-36468115	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2003G>A; p.S668N; 1:36467267-36467267	bone; femur	chondrosarcoma	Substitution - Missense
c.2384T>G; p.L795R; 1:36466565-36466565	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1212G>A; p.Q404Q; 1:36471506-36471506	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1783C>G; p.L595V; 1:36467903-36467903	breast	carcinoma	Substitution - Missense
c.2220C>G; p.N740K; 1:36466729-36466729	breast	carcinoma	Substitution - Missense
c.2476A>T; p.T826S; 1:36466473-36466473	breast	carcinoma	Substitution - Missense
c.353G>C; p.R118P; 1:36475385-36475385	breast	carcinoma	Substitution - Missense
c.143T>A; p.I48N; 1:36475595-36475595	breast	carcinoma	Substitution - Missense
c.540G>T; p.K180N; 1:36473568-36473568	breast	carcinoma	Substitution - Missense
c.61G>A; p.G21R; 1:36479436-36479436	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.61G>A; p.G21R; 1:36479436-36479436	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.2150C>T; p.T717M; 1:36466799-36466799	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2150C>T; p.T717M; 1:36466799-36466799	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1438G>A; p.E480K; 1:36469688-36469688	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1869G>A; p.G623G; 1:36467647-36467647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1542C>T; p.P514P; 1:36469190-36469190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.531C>T; p.C177C; 1:36473577-36473577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2592G>C; p.*864Y; 1:36466357-36466357	endometrium	carcinoma; endometrioid_carcinoma	Nonstop extension
c.2135T>C; p.L712P; 1:36466814-36466814	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.820C>T; p.R274C; 1:36472540-36472540	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1639T>C; p.W547R; 1:36468159-36468159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1597C>T; p.L533L; 1:36468201-36468201	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.24C>T; p.S8S; 1:36479473-36479473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.223C>T; p.Q75*; 1:36475515-36475515	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2414C>T; p.A805V; 1:36466535-36466535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1148C>T; p.A383V; 1:36471570-36471570	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.623C>T; p.A208V; 1:36473485-36473485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.147G>A; p.K49K; 1:36475591-36475591	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2341C>T; p.Q781*; 1:36466608-36466608	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Nonsense
c.2341C>T; p.Q781*; 1:36466608-36466608	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2254C>T; p.Q752*; 1:36466695-36466695	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2302C>T; p.Q768*; 1:36466647-36466647	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2225C>G; p.S742*; 1:36466724-36466724	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2046_2047insC; p.G683fs*13; 1:36466902-36466903	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.2202G>A; p.V734?; 1:36466747-36466747	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1260T>C; p.T420T; 1:36471458-36471458	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1260T>C; p.T420T; 1:36471458-36471458	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2275G>A; p.D759N; 1:36466674-36466674	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2442T>G; p.Y814*; 1:36466507-36466507	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1399C>T; p.P467S; 1:36469727-36469727	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2308C>T; p.Q770*; 1:36466641-36466641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2308C>T; p.Q770*; 1:36466641-36466641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2308C>T; p.Q770*; 1:36466641-36466641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2308C>T; p.Q770*; 1:36466641-36466641	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2326C>T; p.Q776*; 1:36466623-36466623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2326C>T; p.Q776*; 1:36466623-36466623	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Nonsense
c.2326C>T; p.Q776*; 1:36466623-36466623	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia	Substitution - Nonsense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1853C>T; p.T618I; 1:36467833-36467833	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_neutrophilic_leukaemia	Substitution - Missense
c.1919C>A; p.T640N; 1:36467597-36467597	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1919C>A; p.T640N; 1:36467597-36467597	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2203C>G; p.P735A; 1:36466746-36466746	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2087T>C; p.M696T; 1:36466862-36466862	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2087T>C; p.M696T; 1:36466862-36466862	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2087T>C; p.M696T; 1:36466862-36466862	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.2337T>G; p.Y779*; 1:36466612-36466612	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2296C>T; p.Q766*; 1:36466653-36466653	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.282C>A; p.H94Q; 1:36475456-36475456	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2007C>T; p.S669S; 1:36467263-36467263	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2036A>C; p.E679A; 1:36467234-36467234	kidney	other; neoplasm	Substitution - Missense
c.605G>C; p.W202S; 1:36473503-36473503	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1962G>A; p.R654R; 1:36467308-36467308	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1408G>A; p.A470T; 1:36469718-36469718	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2576C>T; p.A859V; 1:36466373-36466373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1404delC; p.S469fs*22; 1:36469722-36469722	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1306delC; p.H436fs*12; 1:36469820-36469820	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1983T>A; p.S661R; 1:36467287-36467287	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1657G>A; p.E553K; 1:36468141-36468141	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1657G>A; p.E553K; 1:36468141-36468141	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1657G>A; p.E553K; 1:36468141-36468141	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1615G>T; p.G539C; 1:36468183-36468183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.853C>T; p.L285F; 1:36472382-36472382	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.697C>T; p.R233W; 1:36472663-36472663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569G>A; p.R190H; 1:36473539-36473539	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.214G>A; p.G72R; 1:36475524-36475524	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1089A>G; p.E363E; 1:36471629-36471629	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.690delC; p.M231fs*32; 1:36472670-36472670	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.690delC; p.M231fs*32; 1:36472670-36472670	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.366T>C; p.P122P; 1:36473883-36473883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1152C>T; p.I384I; 1:36471566-36471566	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2005A>G; p.S669G; 1:36467265-36467265	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1952G>A; p.S651N; 1:36467564-36467564	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1918A>G; p.T640A; 1:36467598-36467598	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1692C>A; p.I564I; 1:36468106-36468106	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.288G>T; p.Q96H; 1:36475450-36475450	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.268C>T; p.P90S; 1:36475470-36475470	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1253G>A; p.R418H; 1:36471465-36471465	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2414C>T; p.A805V; 1:36466535-36466535	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.754T>C; p.C252R; 1:36472606-36472606	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.580C>T; p.L194L; 1:36473528-36473528	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2198C>T; p.P733L; 1:36466751-36466751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.586T>C; p.Y196H; 1:36473522-36473522	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1099C>T; p.R367W; 1:36471619-36471619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1395G>T; p.L465L; 1:36469731-36469731	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2397C>T; p.S799S; 1:36466552-36466552	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.623C>T; p.A208V; 1:36473485-36473485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.623C>T; p.A208V; 1:36473485-36473485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2266C>T; p.L756F; 1:36466683-36466683	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1440A>G; p.E480E; 1:36469686-36469686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440A>G; p.E480E; 1:36469686-36469686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.805C>T; p.R269C; 1:36472555-36472555	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2354G>T; p.S785I; 1:36466595-36466595	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1421A>G; p.N474S; 1:36469705-36469705	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1071+9C>T; p.?; 1:36472057-36472057	liver	carcinoma	Unknown
c.1071+9C>T; p.?; 1:36472057-36472057	liver	carcinoma	Unknown
c.2526A>G; p.P842P; 1:36466423-36466423	liver	carcinoma	Substitution - coding silent
c.2526A>G; p.P842P; 1:36466423-36466423	liver	carcinoma	Substitution - coding silent
c.569G>A; p.R190H; 1:36473539-36473539	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1398C>G; p.G466G; 1:36469728-36469728	liver	carcinoma	Substitution - coding silent
c.241G>A; p.G81R; 1:36475497-36475497	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1967A>G; p.N656S; 1:36467303-36467303	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1803_1804GG>TT; p.M601>?; 1:36467882-36467883	lung	carcinoma; small_cell_carcinoma	Complex
c.185T>A; p.L62Q; 1:36475553-36475553	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.164T>A; p.L55Q; 1:36475574-36475574	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.991G>T; p.E331*; 1:36472244-36472244	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.661C>T; p.P221S; 1:36473447-36473447	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1748G>T; p.R583L; 1:36467938-36467938	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.445G>C; p.E149Q; 1:36473804-36473804	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.504G>T; p.Q168H; 1:36473604-36473604	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1286-1G>T; p.?; 1:36469841-36469841	lung	carcinoma; small_cell_carcinoma	Unknown
c.1067G>C; p.W356S; 1:36472070-36472070	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1079C>T; p.P360L; 1:36471639-36471639	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.914T>A; p.L305Q; 1:36472321-36472321	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1427C>T; p.T476I; 1:36469699-36469699	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2351G>A; p.G784D; 1:36466598-36466598	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1865-2A>G; p.?; 1:36467653-36467653	lung	carcinoma; adenocarcinoma	Unknown
c.1663G>T; p.G555W; 1:36468135-36468135	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1404delC; p.S469fs*22; 1:36469722-36469722	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1122T>A; p.S374S; 1:36471596-36471596	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.1872G>A; p.S624S; 1:36467644-36467644	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1253G>A; p.R418H; 1:36471465-36471465	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1459G>T; p.G487W; 1:36469667-36469667	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1871C>T; p.S624L; 1:36467645-36467645	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.139A>C; p.I47L; 1:36475599-36475599	ovary	other; neoplasm	Substitution - Missense
c.139A>C; p.I47L; 1:36475599-36475599	ovary	other; neoplasm	Substitution - Missense
c.735G>T; p.Q245H; 1:36472625-36472625	ovary	other; neoplasm	Substitution - Missense
c.806G>A; p.R269H; 1:36472554-36472554	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1089A>T; p.E363D; 1:36471629-36471629	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1344C>A; p.G448G; 1:36469782-36469782	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2426C>T; p.P809L; 1:36466523-36466523	skin	malignant_melanoma	Substitution - Missense
c.1097G>A; p.G366E; 1:36471621-36471621	skin	malignant_melanoma	Substitution - Missense
c.2447A>G; p.N816S; 1:36466502-36466502	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1164C>T; p.C388C; 1:36471554-36471554	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.855_856CC>TT; p.P286S; 1:36472379-36472380	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2538C>T; p.F846F; 1:36466411-36466411	skin	malignant_melanoma	Substitution - coding silent
c.2241C>T; p.L747L; 1:36466708-36466708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2140G>A; p.G714S; 1:36466809-36466809	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.399G>A; p.M133I; 1:36473850-36473850	skin	malignant_melanoma	Substitution - Missense
c.877G>A; p.E293K; 1:36472358-36472358	skin	malignant_melanoma	Substitution - Missense
c.57C>T; p.L19L; 1:36479440-36479440	skin	malignant_melanoma	Substitution - coding silent
c.309G>A; p.L103L; 1:36475429-36475429	skin	malignant_melanoma	Substitution - coding silent
c.2468_2469CC>TT; p.P823L; 1:36466480-36466481	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1745C>T; p.S582F; 1:36467941-36467941	skin	malignant_melanoma	Substitution - Missense
c.1746C>T; p.S582S; 1:36467940-36467940	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1579C>T; p.P527S; 1:36468219-36468219	skin	malignant_melanoma	Substitution - Missense
c.997G>A; p.A333T; 1:36472238-36472238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1087G>A; p.E363K; 1:36471631-36471631	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.514G>A; p.D172N; 1:36473594-36473594	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.894C>T; p.L298L; 1:36472341-36472341	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.519C>T; p.S173S; 1:36473589-36473589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.597G>T; p.M199I; 1:36473511-36473511	skin	malignant_melanoma	Substitution - Missense
c.1762C>T; p.H588Y; 1:36467924-36467924	skin	malignant_melanoma	Substitution - Missense
c.591G>A; p.Q197Q; 1:36473517-36473517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1871C>T; p.S624L; 1:36467645-36467645	skin	malignant_melanoma	Substitution - Missense
c.1474+1G>A; p.?; 1:36469651-36469651	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1538G>A; p.G513E; 1:36469194-36469194	skin	malignant_melanoma	Substitution - Missense
c.2034G>A; p.M678I; 1:36467236-36467236	skin	malignant_melanoma	Substitution - Missense
c.532G>A; p.V178M; 1:36473576-36473576	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.59C>T; p.P20L; 1:36479438-36479438	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.696G>A; p.L232L; 1:36472664-36472664	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.697C>T; p.R233W; 1:36472663-36472663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.697C>T; p.R233W; 1:36472663-36472663	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.355G>A; p.A119T; 1:36475383-36475383	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1509C>T; p.I503I; 1:36469223-36469223	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2515G>T; p.V839F; 1:36466434-36466434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1368T>C; p.P456P; 1:36469758-36469758	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2434A>G; p.K812E; 1:36466515-36466515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1417A>G; p.S473G; 1:36469709-36469709	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.354C>T; p.R118R; 1:36475384-36475384	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1254T>C; p.R418R; 1:36471464-36471464	thyroid	other; neoplasm	Substitution - coding silent
c.1243G>A; p.G415R; 1:36471475-36471475	thyroid	carcinoma	Substitution - Missense
c.1260T>C; p.T420T; 1:36471458-36471458	thyroid	other; neoplasm	Substitution - coding silent
c.303C>T; p.C101C; 1:36475435-36475435	thyroid	carcinoma	Substitution - coding silent
c.290C>A; p.A97D; 1:36475448-36475448	thyroid	other; neoplasm	Substitution - Missense
c.2088G>A; p.M696I; 1:36466861-36466861	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1657G>A; p.E553K; 1:36468141-36468141	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1260T>C; p.T420T; 1:36471458-36471458	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1974C>A; p.L658L; 1:36467296-36467296	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1848G>A; p.L616L; 1:36467838-36467838	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1480A>G; p.I494V; 1:36469252-36469252	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1480A>G; p.I494V; 1:36469252-36469252	urinary_tract; bladder	carcinoma	Substitution - Missense
c.591G>C; p.Q197H; 1:36473517-36473517	urinary_tract; bladder	carcinoma	Substitution - Missense
c.147G>A; p.K49K; 1:36475591-36475591	urinary_tract; bladder	carcinoma	Substitution - coding silent

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COSMIC confirmed somatic mutation [Top]

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