Entrez Gene

Basic Information
Gene ID	4052
Name	LTBP1
Synonymous	latent transforming growth factor beta binding protein 1;LTBP1;latent transforming growth factor beta binding protein 1
Definition	LTBP-1\|TGF-beta1-BP-1\|latent-transforming growth factor beta-binding protein 1\|transforming growth factor beta-1-binding protein 1
Position	2p22-p21
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1033C>T; p.L345L; 2:33110751-33110751	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.669C>T; p.A223A; 2:33021012-33021012	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3489C>T; p.I1163I; 2:33309438-33309438	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.727G>C; p.G243R; 2:33021070-33021070	liver	carcinoma	Substitution - Missense
c.108C>T; p.P36P; 2:32947432-32947432	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.4939G>A; p.D1647N; 2:33397234-33397234	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2821T>C; p.C941R; 2:33275039-33275039	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.2207C>T; p.T736M; 2:33257323-33257323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2905G>A; p.G969R; 2:33275833-33275833	skin	malignant_melanoma	Substitution - Missense
c.4885C>T; p.L1629F; 2:33397180-33397180	skin	malignant_melanoma	Substitution - Missense
c.2792G>A; p.R931H; 2:33275010-33275010	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4459G>A; p.E1487K; 2:33364272-33364272	urinary_tract; bladder	carcinoma	Substitution - Missense
c.4907G>A; p.R1636H; 2:33397202-33397202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3846G>T; p.G1282G; 2:33342950-33342950	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1224G>A; p.M408I; 2:33186878-33186878	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1032G>A; p.Q344Q; 2:33110750-33110750	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1032G>A; p.Q344Q; 2:33110750-33110750	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4355A>G; p.Y1452C; 2:33363471-33363471	breast	carcinoma	Substitution - Missense
c.2320C>A; p.L774I; 2:33257436-33257436	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1860C>T; p.N620N; 2:33222135-33222135	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3178T>G; p.S1060A; 2:33293222-33293222	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3485-1G>T; p.?; 2:33309433-33309433	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.4386G>C; p.V1462V; 2:33363502-33363502	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.4386G>C; p.V1462V; 2:33363502-33363502	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.719C>T; p.S240F; 2:33021062-33021062	skin	malignant_melanoma	Substitution - Missense
c.2257G>A; p.G753R; 2:33257373-33257373	skin	malignant_melanoma	Substitution - Missense
c.1362G>T; p.G454G; 2:33187016-33187016	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.5041A>G; p.K1681E; 2:33398417-33398417	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2025G>T; p.E675D; 2:33252702-33252702	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2881G>A; p.E961K; 2:33275809-33275809	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2001T>A; p.P667P; 2:33252678-33252678	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.554G>A; p.R185K; 2:32948934-32948934	skin	malignant_melanoma	Substitution - Missense
c.1475A>C; p.E492A; 2:33188625-33188625	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4170C>T; p.C1390C; 2:33360763-33360763	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2920G>T; p.V974F; 2:33275848-33275848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3616G>A; p.E1206K; 2:33315152-33315152	skin; acral	malignant_melanoma	Substitution - Missense
c.1937G>A; p.G646D; 2:33243722-33243722	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3718G>C; p.G1240R; 2:33315254-33315254	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.4338G>A; p.R1446R; 2:33363454-33363454	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3718G>C; p.G1240R; 2:33315254-33315254	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.5015A>G; p.N1672S; 2:33398391-33398391	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3888G>C; p.G1296G; 2:33347395-33347395	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.4530G>A; p.P1510P; 2:33364343-33364343	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4285T>C; p.C1429R; 2:33363401-33363401	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1109G>C; p.C370S; 2:33134868-33134868	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2769C>T; p.V923V; 2:33274987-33274987	pancreas	carcinoma	Substitution - coding silent
c.2932G>T; p.G978W; 2:33275860-33275860	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.565+2T>C; p.?; 2:32948947-32948947	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3085G>A; p.G1029R; 2:33280128-33280128	skin	malignant_melanoma	Substitution - Missense
c.1616C>A; p.S539Y; 2:33188766-33188766	skin	malignant_melanoma	Substitution - Missense
c.4555G>T; p.E1519*; 2:33365344-33365344	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2986C>G; p.R996G; 2:33275914-33275914	breast	carcinoma	Substitution - Missense
c.3899A>G; p.E1300G; 2:33347406-33347406	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.556T>C; p.C186R; 2:32948936-32948936	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2941C>T; p.R981W; 2:33275869-33275869	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2396-1G>T; p.?; 2:33259587-33259587	lung	carcinoma; adenocarcinoma	Unknown
c.659C>A; p.T220K; 2:33021002-33021002	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3277G>A; p.G1093R; 2:33300489-33300489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4372T>C; p.Y1458H; 2:33363488-33363488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5124G>A; p.P1708P; 2:33398500-33398500	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3990C>G; p.S1330S; 2:33347497-33347497	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3733G>A; p.D1245N; 2:33315269-33315269	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.4708G>A; p.D1570N; 2:33365497-33365497	skin	malignant_melanoma	Substitution - Missense
c.4708G>A; p.D1570N; 2:33365497-33365497	skin	malignant_melanoma	Substitution - Missense
c.4834G>A; p.D1612N; 2:33389303-33389303	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.4834G>A; p.D1612N; 2:33389303-33389303	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2829C>T; p.C943C; 2:33275047-33275047	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1731G>A; p.K577K; 2:33217581-33217581	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2413G>A; p.E805K; 2:33259605-33259605	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3505G>A; p.D1169N; 2:33309454-33309454	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1492C>A; p.H498N; 2:33188642-33188642	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4410T>C; p.D1470D; 2:33364223-33364223	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2363G>A; p.R788Q; 2:33257479-33257479	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3374G>A; p.C1125Y; 2:33301534-33301534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4952G>T; p.G1651V; 2:33397247-33397247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3374G>A; p.C1125Y; 2:33301534-33301534	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2433G>C; p.L811F; 2:33262736-33262736	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5164G>A; p.E1722K; 2:33398540-33398540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1102G>A; p.G368S; 2:33134861-33134861	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4499T>A; p.L1500Q; 2:33364312-33364312	skin	malignant_melanoma	Substitution - Missense
c.2776C>A; p.L926I; 2:33274994-33274994	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4499T>A; p.L1500Q; 2:33364312-33364312	skin	malignant_melanoma	Substitution - Missense
c.2551C>A; p.P851T; 2:33263323-33263323	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2005C>T; p.P669S; 2:33252682-33252682	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2591G>T; p.S864I; 2:33263363-33263363	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1288T>A; p.C430S; 2:33186942-33186942	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2005C>T; p.P669S; 2:33252682-33252682	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2366A>G; p.E789G; 2:33257482-33257482	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2371G>A; p.G791R; 2:33257487-33257487	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4265A>G; p.N1422S; 2:33361507-33361507	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2153C>T; p.P718L; 2:33252830-33252830	skin	malignant_melanoma	Substitution - Missense
c.4186+1G>A; p.?; 2:33360780-33360780	skin	malignant_melanoma	Unknown
c.2736G>A; p.R912R; 2:33273771-33273771	skin	malignant_melanoma	Substitution - coding silent
c.3295G>A; p.E1099K; 2:33300507-33300507	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4065T>G; p.N1355K; 2:33360658-33360658	skin	malignant_melanoma	Substitution - Missense
c.3608-9A>C; p.?; 2:33315135-33315135	ovary	other; neoplasm	Unknown
c.2537C>A; p.T846K; 2:33263309-33263309	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1569C>T; p.Y523Y; 2:33188719-33188719	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.2370C>T; p.H790H; 2:33257486-33257486	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2894C>A; p.P965Q; 2:33275822-33275822	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3133G>A; p.E1045K; 2:33293177-33293177	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3599C>G; p.T1200R; 2:33309548-33309548	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.704G>T; p.S235I; 2:33021047-33021047	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3426T>C; p.S1142S; 2:33301586-33301586	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2960G>A; p.S987N; 2:33275888-33275888	skin	malignant_melanoma	Substitution - Missense
c.4631A>G; p.K1544R; 2:33365420-33365420	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1952C>T; p.T651I; 2:33243737-33243737	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1505G>T; p.R502I; 2:33188655-33188655	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1575G>A; p.G525G; 2:33188725-33188725	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3720C>T; p.G1240G; 2:33315256-33315256	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1999C>T; p.P667S; 2:33243784-33243784	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1999C>T; p.P667S; 2:33243784-33243784	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1427-4G>T; p.?; 2:33188573-33188573	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1999C>T; p.P667S; 2:33243784-33243784	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2407delC; p.P804fs*38; 2:33259599-33259599	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3829C>G; p.Q1277E; 2:33342933-33342933	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3417T>A; p.T1139T; 2:33301577-33301577	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3829C>G; p.Q1277E; 2:33342933-33342933	urinary_tract; bladder	carcinoma	Substitution - Missense
c.949C>T; p.Q317*; 2:33110667-33110667	thyroid	carcinoma	Substitution - Nonsense
c.956G>A; p.G319E; 2:33110674-33110674	skin	malignant_melanoma	Substitution - Missense
c.2539T>A; p.S847T; 2:33263311-33263311	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1216C>T; p.P406S; 2:33186870-33186870	skin	malignant_melanoma	Substitution - Missense
c.4510_4511insA; p.R1506fs*7; 2:33364323-33364324	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1468C>T; p.P490S; 2:33188618-33188618	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1964G>A; p.G655E; 2:33243749-33243749	skin	malignant_melanoma	Substitution - Missense
c.3378G>A; p.Q1126Q; 2:33301538-33301538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1964G>A; p.G655E; 2:33243749-33243749	skin	malignant_melanoma	Substitution - Missense
c.3082G>A; p.E1028K; 2:33280125-33280125	skin	malignant_melanoma	Substitution - Missense
c.4701C>A; p.P1567P; 2:33365490-33365490	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2403T>A; p.T801T; 2:33259595-33259595	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2791C>A; p.R931S; 2:33275009-33275009	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4374C>T; p.Y1458Y; 2:33363490-33363490	stomach	adenocarcinoma	Substitution - coding silent
c.1171G>A; p.D391N; 2:33134930-33134930	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4319G>T; p.G1440V; 2:33363435-33363435	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.534T>C; p.S178S; 2:32948914-32948914	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.4660C>T; p.L1554L; 2:33365449-33365449	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2343G>A; p.V781V; 2:33257459-33257459	breast	carcinoma	Substitution - coding silent
c.2844G>A; p.M948I; 2:33275062-33275062	skin	malignant_melanoma	Substitution - Missense
c.2844G>A; p.M948I; 2:33275062-33275062	skin	malignant_melanoma	Substitution - Missense
c.4987G>A; p.D1663N; 2:33397282-33397282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3098G>A; p.W1033*; 2:33280141-33280141	skin	malignant_melanoma	Substitution - Nonsense
c.2621-1G>T; p.?; 2:33273655-33273655	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2382G>T; p.V794V; 2:33257498-33257498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.680C>T; p.S227L; 2:33021023-33021023	skin	malignant_melanoma	Substitution - Missense
c.637A>G; p.T213A; 2:33020980-33020980	pancreas	carcinoma	Substitution - Missense
c.637A>G; p.T213A; 2:33020980-33020980	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.3281A>G; p.Q1094R; 2:33300493-33300493	central_nervous_system; brain	glioma	Substitution - Missense
c.680C>T; p.S227L; 2:33021023-33021023	skin	malignant_melanoma	Substitution - Missense
c.3585A>C; p.L1195L; 2:33309534-33309534	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3148G>T; p.A1050S; 2:33293192-33293192	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4208C>G; p.P1403R; 2:33361450-33361450	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.720C>A; p.S240S; 2:33021063-33021063	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3585A>C; p.L1195L; 2:33309534-33309534	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.2878G>A; p.D960N; 2:33275806-33275806	liver	carcinoma	Substitution - Missense
c.2468C>A; p.P823H; 2:33262771-33262771	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2878G>A; p.D960N; 2:33275806-33275806	liver	carcinoma	Substitution - Missense
c.1365G>A; p.T455T; 2:33187019-33187019	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3376C>A; p.Q1126K; 2:33301536-33301536	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Substitution - Missense
c.3376C>A; p.Q1126K; 2:33301536-33301536	soft_tissue; striated_muscle	rhabdomyosarcoma	Substitution - Missense
c.3429T>C; p.F1143F; 2:33301589-33301589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.5123C>T; p.P1708L; 2:33398499-33398499	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1365G>A; p.T455T; 2:33187019-33187019	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5123C>T; p.P1708L; 2:33398499-33398499	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1070C>A; p.T357N; 2:33134829-33134829	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.565C>T; p.P189S; 2:32948945-32948945	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2106C>A; p.C702*; 2:33252783-33252783	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3986G>A; p.R1329H; 2:33347493-33347493	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4297G>A; p.G1433R; 2:33363413-33363413	skin	malignant_melanoma	Substitution - Missense
c.1210C>T; p.H404Y; 2:33186864-33186864	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2979G>T; p.Q993H; 2:33275907-33275907	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3164_3165CC>AT; p.S1055Y; 2:33293208-33293209	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2805C>T; p.T935T; 2:33275023-33275023	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.623T>C; p.V208A; 2:33020966-33020966	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2258G>A; p.G753E; 2:33257374-33257374	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1790_1791insC; p.K599fs*19; 2:33217640-33217641	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2806G>A; p.E936K; 2:33275024-33275024	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4633C>G; p.Q1545E; 2:33365422-33365422	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1257T>C; p.C419C; 2:33186911-33186911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.598A>T; p.M200L; 2:33020941-33020941	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3930C>T; p.F1310F; 2:33347437-33347437	skin	malignant_melanoma	Substitution - coding silent
c.4407G>A; p.M1469I; 2:33364220-33364220	skin	malignant_melanoma	Substitution - Missense
c.4173G>A; p.P1391P; 2:33360766-33360766	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3784G>A; p.D1262N; 2:33342888-33342888	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1792C>A; p.P598T; 2:33217642-33217642	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3671G>A; p.G1224D; 2:33315207-33315207	skin	malignant_melanoma	Substitution - Missense
c.2265A>G; p.V755V; 2:33257381-33257381	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.4944C>A; p.C1648*; 2:33397239-33397239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.4153T>A; p.C1385S; 2:33360746-33360746	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.2053T>G; p.S685A; 2:33252730-33252730	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1481_1482CC>TT; p.S494F; 2:33188631-33188632	skin	malignant_melanoma	Substitution - Missense
c.4855G>A; p.E1619K; 2:33397150-33397150	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.494+2T>C; p.?; 2:32947820-32947820	prostate	carcinoma; adenocarcinoma	Unknown
c.2040C>T; p.Y680Y; 2:33252717-33252717	skin	malignant_melanoma	Substitution - coding silent
c.927C>G; p.L309L; 2:33110645-33110645	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4371G>A; p.T1457T; 2:33363487-33363487	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3004G>T; p.E1002*; 2:33280047-33280047	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.3801C>A; p.S1267S; 2:33342905-33342905	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3276C>T; p.N1092N; 2:33300488-33300488	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2647G>A; p.D883N; 2:33273682-33273682	skin	malignant_melanoma	Substitution - Missense
c.4441G>T; p.G1481C; 2:33364254-33364254	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3074C>T; p.P1025L; 2:33280117-33280117	skin	malignant_melanoma	Substitution - Missense
c.1916G>T; p.G639V; 2:33243701-33243701	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2322C>A; p.L774L; 2:33257438-33257438	lung	carcinoma; non_small_cell_carcinoma	Substitution - coding silent
c.3698G>A; p.G1233D; 2:33315234-33315234	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2009C>A; p.P670H; 2:33252686-33252686	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1052G>A; p.R351H; 2:33134811-33134811	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4138G>A; p.G1380R; 2:33360731-33360731	skin	malignant_melanoma	Substitution - Missense
c.4776C>G; p.D1592E; 2:33389245-33389245	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4879G>C; p.G1627R; 2:33397174-33397174	breast	carcinoma	Substitution - Missense
c.4664A>G; p.Y1555C; 2:33365453-33365453	genital_tract; extragonadal	germ_cell_tumour; seminoma	Substitution - Missense
c.2892G>A; p.R964R; 2:33275820-33275820	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.3692A>G; p.Q1231R; 2:33315228-33315228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.5074T>A; p.L1692M; 2:33398450-33398450	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2078T>G; p.L693R; 2:33252755-33252755	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1605T>A; p.H535Q; 2:33188755-33188755	liver	carcinoma	Substitution - Missense
c.2532A>G; p.E844E; 2:33263304-33263304	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2934G>T; p.G978G; 2:33275862-33275862	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.965G>A; p.G322E; 2:33110683-33110683	skin	malignant_melanoma	Substitution - Missense
c.4748C>T; p.T1583M; 2:33389217-33389217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2959A>G; p.S987G; 2:33275887-33275887	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2898C>G; p.D966E; 2:33275826-33275826	large_intestine; colon	adenoma	Substitution - Missense
c.4748C>T; p.T1583M; 2:33389217-33389217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1474G>C; p.E492Q; 2:33188624-33188624	prostate	carcinoma	Substitution - Missense
c.3116A>G; p.D1039G; 2:33293160-33293160	skin	malignant_melanoma	Substitution - Missense
c.3219G>A; p.P1073P; 2:33293263-33293263	skin	malignant_melanoma	Substitution - coding silent
c.3116A>G; p.D1039G; 2:33293160-33293160	skin	malignant_melanoma	Substitution - Missense
c.4938C>T; p.C1646C; 2:33397233-33397233	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4938C>T; p.C1646C; 2:33397233-33397233	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4222T>G; p.F1408V; 2:33361464-33361464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3786C>A; p.D1262E; 2:33342890-33342890	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3370G>T; p.E1124*; 2:33301530-33301530	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1947A>G; p.R649R; 2:33243732-33243732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2702G>T; p.C901F; 2:33273737-33273737	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4819C>T; p.P1607S; 2:33389288-33389288	skin	malignant_melanoma	Substitution - Missense
c.1280G>A; p.G427E; 2:33186934-33186934	skin	malignant_melanoma	Substitution - Missense
c.3064C>T; p.Q1022*; 2:33280107-33280107	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4158A>G; p.E1386E; 2:33360751-33360751	skin	malignant_melanoma	Substitution - coding silent
c.142C>G; p.P48A; 2:32947466-32947466	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3669G>T; p.E1223D; 2:33315205-33315205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.986C>A; p.S329Y; 2:33110704-33110704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2791C>T; p.R931C; 2:33275009-33275009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2572G>A; p.A858T; 2:33263344-33263344	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.4820C>T; p.P1607L; 2:33389289-33389289	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1228G>A; p.G410S; 2:33186882-33186882	skin	malignant_melanoma	Substitution - Missense
c.1401C>T; p.T467T; 2:33187055-33187055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2707G>A; p.E903K; 2:33273742-33273742	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.5143T>G; p.L1715V; 2:33398519-33398519	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3758_3759insT; p.V1254fs*3; 2:33342862-33342863	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1130G>T; p.G377V; 2:33134889-33134889	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.562delA; p.K188fs*34; 2:32948942-32948942	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.4370C>T; p.T1457M; 2:33363486-33363486	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.4521T>C; p.C1507C; 2:33364334-33364334	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1080C>T; p.I360I; 2:33134839-33134839	breast	carcinoma	Substitution - coding silent
c.3694C>A; p.Q1232K; 2:33315230-33315230	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1593C>G; p.T531T; 2:33188743-33188743	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3548G>T; p.G1183V; 2:33309497-33309497	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4741C>T; p.P1581S; 2:33389210-33389210	skin	malignant_melanoma	Substitution - Missense
c.3239-1G>A; p.?; 2:33300450-33300450	skin	malignant_melanoma	Unknown
c.3949G>A; p.E1317K; 2:33347456-33347456	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4743C>A; p.P1581P; 2:33389212-33389212	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2965T>C; p.Y989H; 2:33275893-33275893	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4133G>T; p.G1378V; 2:33360726-33360726	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1946G>T; p.R649L; 2:33243731-33243731	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2469C>A; p.P823P; 2:33262772-33262772	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4024C>T; p.Q1342*; 2:33360617-33360617	skin	malignant_melanoma	Substitution - Nonsense
c.4051T>C; p.Y1351H; 2:33360644-33360644	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.922G>A; p.V308M; 2:33110640-33110640	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.922G>A; p.V308M; 2:33110640-33110640	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3806G>T; p.R1269L; 2:33342910-33342910	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1419A>C; p.G473G; 2:33187073-33187073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4173G>T; p.P1391P; 2:33360766-33360766	breast	carcinoma	Substitution - coding silent
c.1418G>A; p.G473E; 2:33187072-33187072	skin	malignant_melanoma	Substitution - Missense
c.4680C>A; p.G1560G; 2:33365469-33365469	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2555T>A; p.V852D; 2:33263327-33263327	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4173G>T; p.P1391P; 2:33360766-33360766	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.5070G>T; p.K1690N; 2:33398446-33398446	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4425C>T; p.P1475P; 2:33364238-33364238	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.596G>T; p.G199V; 2:33020939-33020939	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4525C>T; p.R1509*; 2:33364338-33364338	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.4425C>T; p.P1475P; 2:33364238-33364238	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3398A>G; p.H1133R; 2:33301558-33301558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.864-1G>A; p.?; 2:33110581-33110581	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.5055C>A; p.T1685T; 2:33398431-33398431	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4612A>T; p.S1538C; 2:33365401-33365401	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2152C>T; p.P718S; 2:33252829-33252829	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2787G>C; p.Q929H; 2:33275005-33275005	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1417G>A; p.G473R; 2:33187071-33187071	skin	malignant_melanoma	Substitution - Missense
c.3679C>T; p.H1227Y; 2:33315215-33315215	skin	malignant_melanoma	Substitution - Missense
c.1417G>A; p.G473R; 2:33187071-33187071	skin	malignant_melanoma	Substitution - Missense
c.2903G>T; p.C968F; 2:33275831-33275831	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3141C>G; p.N1047K; 2:33293185-33293185	breast	carcinoma	Substitution - Missense
c.1581T>A; p.P527P; 2:33188731-33188731	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3477C>T; p.H1159H; 2:33301637-33301637	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1951A>G; p.T651A; 2:33243736-33243736	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2221C>T; p.H741Y; 2:33257337-33257337	breast	carcinoma	Substitution - Missense
c.1351A>C; p.K451Q; 2:33187005-33187005	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2867G>T; p.C956F; 2:33275085-33275085	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.854T>C; p.I285T; 2:33021197-33021197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4821C>T; p.P1607P; 2:33389290-33389290	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.3858G>C; p.V1286V; 2:33342962-33342962	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1078A>G; p.I360V; 2:33134837-33134837	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4130C>A; p.S1377*; 2:33360723-33360723	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2002G>A; p.D668N; 2:33252679-33252679	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1721G>C; p.G574A; 2:33217571-33217571	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4627G>A; p.G1543S; 2:33365416-33365416	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.472C>T; p.H158Y; 2:32947796-32947796	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.957G>A; p.G319G; 2:33110675-33110675	skin	malignant_melanoma	Substitution - coding silent
c.919T>A; p.Y307N; 2:33110637-33110637	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.951G>C; p.Q317H; 2:33110669-33110669	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.713C>T; p.A238V; 2:33021056-33021056	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.800C>T; p.A267V; 2:33021143-33021143	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3799T>C; p.S1267P; 2:33342903-33342903	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4045G>T; p.E1349*; 2:33360638-33360638	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2824A>C; p.I942L; 2:33275042-33275042	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4977G>A; p.M1659I; 2:33397272-33397272	skin	malignant_melanoma	Substitution - Missense
c.2891G>T; p.R964M; 2:33275819-33275819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4837+2T>C; p.?; 2:33389308-33389308	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.2947G>T; p.E983*; 2:33275875-33275875	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.885G>T; p.Q295H; 2:33110603-33110603	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.885G>T; p.Q295H; 2:33110603-33110603	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4666G>A; p.G1556R; 2:33365455-33365455	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4986C>T; p.V1662V; 2:33397281-33397281	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1502C>G; p.S501*; 2:33188652-33188652	breast	carcinoma	Substitution - Nonsense
c.4425C>A; p.P1475P; 2:33364238-33364238	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2469C>T; p.P823P; 2:33262772-33262772	skin	malignant_melanoma	Substitution - coding silent
c.2321T>C; p.L774P; 2:33257437-33257437	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3645G>A; p.P1215P; 2:33315181-33315181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.4156G>A; p.E1386K; 2:33360749-33360749	skin	malignant_melanoma	Substitution - Missense
c.4156G>A; p.E1386K; 2:33360749-33360749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1238G>T; p.C413F; 2:33186892-33186892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.4646C>G; p.T1549S; 2:33365435-33365435	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.923T>C; p.V308A; 2:33110641-33110641	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3833C>T; p.A1278V; 2:33342937-33342937	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1190A>T; p.N397I; 2:33134949-33134949	skin	malignant_melanoma	Substitution - Missense
c.2225G>C; p.R742T; 2:33257341-33257341	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.665C>T; p.A222V; 2:33021008-33021008	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.5152G>A; p.D1718N; 2:33398528-33398528	skin	malignant_melanoma	Substitution - Missense
c.3574_3575GG>AA; p.G1192K; 2:33309523-33309524	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2719T>C; p.F907L; 2:33273754-33273754	skin	malignant_melanoma	Substitution - Missense
c.1375C>T; p.H459Y; 2:33187029-33187029	skin	malignant_melanoma	Substitution - Missense
c.3974C>T; p.T1325I; 2:33347481-33347481	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5168G>A; p.1723; 2:33398544-33398544	skin	malignant_melanoma	Substitution - coding silent
c.4650G>T; p.E1550D; 2:33365439-33365439	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4520G>A; p.C1507Y; 2:33364333-33364333	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3696G>A; p.Q1232Q; 2:33315232-33315232	skin	malignant_melanoma	Substitution - coding silent
c.990C>T; p.F330F; 2:33110708-33110708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1202-1G>A; p.?; 2:33186855-33186855	lung	carcinoma; adenocarcinoma	Unknown
c.4749G>A; p.T1583T; 2:33389218-33389218	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2409C>T; p.P803P; 2:33259601-33259601	skin	malignant_melanoma	Substitution - coding silent
c.4907G>T; p.R1636L; 2:33397202-33397202	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2086C>T; p.H696Y; 2:33252763-33252763	breast	carcinoma	Substitution - Missense
c.2930T>C; p.V977A; 2:33275858-33275858	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3277delG; p.Q1094fs*102; 2:33300489-33300489	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3338C>T; p.S1113L; 2:33300550-33300550	ovary	other; neoplasm	Substitution - Missense
c.2630A>C; p.E877A; 2:33273665-33273665	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.742G>A; p.A248T; 2:33021085-33021085	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4382C>A; p.P1461H; 2:33363498-33363498	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.1880T>A; p.I627N; 2:33243665-33243665	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.912C>T; p.T304T; 2:33110630-33110630	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3375C>T; p.C1125C; 2:33301535-33301535	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.685C>T; p.P229S; 2:33021028-33021028	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4003+1G>A; p.?; 2:33347511-33347511	lung	carcinoma; adenocarcinoma	Unknown
c.1361G>A; p.G454E; 2:33187015-33187015	skin	malignant_melanoma	Substitution - Missense
c.681G>A; p.S227S; 2:33021024-33021024	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2467C>T; p.P823S; 2:33262770-33262770	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>T; p.T463T; 2:33187043-33187043	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.504C>T; p.V168V; 2:32948884-32948884	skin	malignant_melanoma	Substitution - coding silent
c.681G>A; p.S227S; 2:33021024-33021024	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.664G>T; p.A222S; 2:33021007-33021007	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4627G>C; p.G1543R; 2:33365416-33365416	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4714G>A; p.D1572N; 2:33365503-33365503	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4723G>C; p.A1575P; 2:33389192-33389192	pancreas	carcinoma	Substitution - Missense
c.3150A>T; p.A1050A; 2:33293194-33293194	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4723G>C; p.A1575P; 2:33389192-33389192	pancreas	carcinoma	Substitution - Missense
c.4723G>C; p.A1575P; 2:33389192-33389192	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2867G>A; p.C956Y; 2:33275085-33275085	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1237T>A; p.C413S; 2:33186891-33186891	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3262A>G; p.N1088D; 2:33300474-33300474	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2511G>T; p.Q837H; 2:33262814-33262814	breast	carcinoma	Substitution - Missense
c.4681A>G; p.M1561V; 2:33365470-33365470	liver	carcinoma	Substitution - Missense
c.4681A>G; p.M1561V; 2:33365470-33365470	liver	carcinoma	Substitution - Missense
c.448G>A; p.G150S; 2:32947772-32947772	skin	malignant_melanoma	Substitution - Missense
c.578C>T; p.P193L; 2:33020921-33020921	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3339G>A; p.S1113S; 2:33300551-33300551	stomach	adenocarcinoma	Substitution - coding silent
c.3223C>T; p.H1075Y; 2:33293267-33293267	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1896A>G; p.L632L; 2:33243681-33243681	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3339G>A; p.S1113S; 2:33300551-33300551	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3339G>A; p.S1113S; 2:33300551-33300551	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.3708C>G; p.I1236M; 2:33315244-33315244	breast	carcinoma	Substitution - Missense
c.2081C>T; p.S694F; 2:33252758-33252758	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1435C>A; p.P479T; 2:33188585-33188585	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2936C>T; p.A979V; 2:33275864-33275864	skin	malignant_melanoma	Substitution - Missense
c.2783C>T; p.S928F; 2:33275001-33275001	skin	malignant_melanoma	Substitution - Missense
c.3556G>T; p.D1186Y; 2:33309505-33309505	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.3070G>A; p.V1024I; 2:33280113-33280113	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1356G>A; p.A452A; 2:33187010-33187010	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1356G>A; p.A452A; 2:33187010-33187010	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.3325G>A; p.G1109R; 2:33300537-33300537	skin	malignant_melanoma	Substitution - Missense
c.3337T>C; p.S1113P; 2:33300549-33300549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4540A>G; p.N1514D; 2:33364353-33364353	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3337T>C; p.S1113P; 2:33300549-33300549	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1102G>T; p.G368C; 2:33134861-33134861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3769A>C; p.S1257R; 2:33342873-33342873	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.4968G>A; p.T1656T; 2:33397263-33397263	skin	malignant_melanoma	Substitution - coding silent
c.4793G>T; p.S1598I; 2:33389262-33389262	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.4627G>T; p.G1543C; 2:33365416-33365416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2083G>T; p.V695F; 2:33252760-33252760	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2056G>T; p.G686*; 2:33252733-33252733	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5045G>A; p.C1682Y; 2:33398421-33398421	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.515G>A; p.R172Q; 2:32948895-32948895	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.1228G>T; p.G410C; 2:33186882-33186882	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.620G>C; p.C207S; 2:33020963-33020963	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.817C>T; p.L273F; 2:33021160-33021160	skin	malignant_melanoma	Substitution - Missense
c.1115A>C; p.N372T; 2:33134874-33134874	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.815C>A; p.T272N; 2:33021158-33021158	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.5142T>C; p.N1714N; 2:33398518-33398518	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1216C>G; p.P406A; 2:33186870-33186870	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1428G>A; p.V476V; 2:33188578-33188578	skin	malignant_melanoma	Substitution - coding silent
c.3734-2A>C; p.?; 2:33342836-33342836	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.4986C>G; p.V1662V; 2:33397281-33397281	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1224G>C; p.M408I; 2:33186878-33186878	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4593G>C; p.L1531L; 2:33365382-33365382	breast	carcinoma	Substitution - coding silent
c.2518G>A; p.G840S; 2:33262821-33262821	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1945C>T; p.R649*; 2:33243730-33243730	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.5001C>T; p.C1667C; 2:33398377-33398377	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1945C>T; p.R649*; 2:33243730-33243730	skin	malignant_melanoma	Substitution - Nonsense
c.3292A>T; p.T1098S; 2:33300504-33300504	liver	carcinoma	Substitution - Missense
c.3292A>T; p.T1098S; 2:33300504-33300504	liver	carcinoma	Substitution - Missense
c.4667G>A; p.G1556E; 2:33365456-33365456	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3722G>A; p.R1241H; 2:33315258-33315258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2384C>T; p.A795V; 2:33257500-33257500	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3260G>A; p.G1087E; 2:33300472-33300472	skin	malignant_melanoma	Substitution - Missense
c.2006C>T; p.P669L; 2:33252683-33252683	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2580G>A; p.T860T; 2:33263352-33263352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent

COSMIC somatic mutation [Top]