Entrez Gene

Basic Information
Gene ID	26762
Name	HAVCR1
Synonymous	hepatitis A virus cellular receptor 1;HAVCR1;hepatitis A virus cellular receptor 1
Definition	T cell immunoglobin domain and mucin domain protein 1\|T-cell immunoglobulin mucin family member 1\|T-cell immunoglobulin mucin receptor 1\|T-cell membrane protein 1\|kidney injury molecule 1
Position	5q33.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.441C>A; p.S147R; 5:157052593-157052593	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1005T>A; p.L335L; 5:157029823-157029823	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.461C>T; p.T154M; 5:157052573-157052573	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.540G>T; p.T180T; 5:157052494-157052494	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.147A>C; p.R49S; 5:157055433-157055433	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.582G>A; p.T194T; 5:157052452-157052452	skin	malignant_melanoma	Substitution - coding silent
c.582G>A; p.T194T; 5:157052452-157052452	skin	malignant_melanoma	Substitution - coding silent
c.582G>A; p.T194T; 5:157052452-157052452	skin	malignant_melanoma	Substitution - coding silent
c.367G>A; p.E123K; 5:157055213-157055213	skin	malignant_melanoma	Substitution - Missense
c.13G>A; p.V5M; 5:157057931-157057931	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>A; p.D82N; 5:157055336-157055336	skin	malignant_melanoma	Substitution - Missense
c.473_474insAAA; p.M158>IK; 5:157052560-157052561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - insertion inframe
c.473_474insCCA; p.M158>IQ; 5:157052560-157052561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Complex - insertion inframe
c.144_145insAG; p.G50fs*42; 5:157055435-157055436	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Insertion - Frameshift
c.592A>C; p.T198P; 5:157052442-157052442	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.462G>C; p.T154T; 5:157052572-157052572	liver	carcinoma	Substitution - coding silent
c.535C>T; p.L179L; 5:157052499-157052499	skin	malignant_melanoma	Substitution - coding silent
c.566G>T; p.S189I; 5:157052468-157052468	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.152C>T; p.S51L; 5:157055428-157055428	NS	malignant_melanoma	Substitution - Missense
c.152C>T; p.S51L; 5:157055428-157055428	NS	malignant_melanoma	Substitution - Missense
c.922C>A; p.L308I; 5:157037277-157037277	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.259G>T; p.D87Y; 5:157055321-157055321	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.296A>G; p.D99G; 5:157055284-157055284	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.590C>T; p.P197L; 5:157052444-157052444	skin	malignant_melanoma	Substitution - Missense
c.420C>G; p.T140T; 5:157052614-157052614	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.785G>T; p.G262V; 5:157042679-157042679	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.760C>T; p.P254S; 5:157049059-157049059	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.540G>A; p.T180T; 5:157052494-157052494	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.421G>A; p.V141I; 5:157052613-157052613	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	liver	carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.421G>A; p.V141I; 5:157052613-157052613	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.473_487del15; p.M158_P162delMTTVP; 5:157052547-157052561	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.477_478insAAC; p.T159_T160insN; 5:157052556-157052557	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.576G>A; p.T192T; 5:157052458-157052458	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.599_601delCAA; p.T200delT; 5:157052433-157052435	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Deletion - In frame
c.214C>T; p.R72W; 5:157055366-157055366	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.743G>A; p.R248K; 5:157049076-157049076	skin	malignant_melanoma	Substitution - Missense
c.729G>T; p.Q243H; 5:157049090-157049090	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.841C>T; p.L281L; 5:157037358-157037358	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.529A>G; p.T177A; 5:157052505-157052505	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.716C>T; p.P239L; 5:157049103-157049103	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.188G>T; p.W63L; 5:157055392-157055392	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.227G>A; p.R76H; 5:157055353-157055353	pancreas	other; cystic_tumour	Substitution - Missense
c.227G>A; p.R76H; 5:157055353-157055353	liver	carcinoma	Substitution - Missense
c.227G>A; p.R76H; 5:157055353-157055353	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.227G>A; p.R76H; 5:157055353-157055353	liver	carcinoma	Substitution - Missense
c.814G>A; p.G272S; 5:157042650-157042650	liver	carcinoma	Substitution - Missense
c.774C>A; p.Y258*; 5:157049045-157049045	liver	carcinoma	Substitution - Nonsense
c.774C>A; p.Y258*; 5:157049045-157049045	liver	carcinoma	Substitution - Nonsense
c.520A>G; p.T174A; 5:157052514-157052514	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.460A>T; p.T154S; 5:157052574-157052574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.T140I; 5:157052615-157052615	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.419C>T; p.T140I; 5:157052615-157052615	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.280A>C; p.N94H; 5:157055300-157055300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.770C>A; p.S257Y; 5:157049049-157049049	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.462G>A; p.T154T; 5:157052572-157052572	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.798G>T; p.V266V; 5:157042666-157042666	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.197G>T; p.G66V; 5:157055383-157055383	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.868G>A; p.A290T; 5:157037331-157037331	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.473T>C; p.M158T; 5:157052561-157052561	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.184G>C; p.V62L; 5:157055396-157055396	central_nervous_system; brain	glioma	Substitution - Missense
c.93T>A; p.S31S; 5:157055487-157055487	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.142A>T; p.N48Y; 5:157055438-157055438	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.142A>T; p.N48Y; 5:157055438-157055438	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.142A>T; p.N48Y; 5:157055438-157055438	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.387C>T; p.V129V; 5:157052647-157052647	skin	malignant_melanoma	Substitution - coding silent
c.102A>C; p.L34L; 5:157055478-157055478	thyroid	other; neoplasm	Substitution - coding silent
c.102A>C; p.L34L; 5:157055478-157055478	thyroid	other; neoplasm	Substitution - coding silent
c.102A>C; p.L34L; 5:157055478-157055478	thyroid	other; neoplasm	Substitution - coding silent
c.102A>C; p.L34L; 5:157055478-157055478	thyroid	other; neoplasm	Substitution - coding silent
c.102A>C; p.L34L; 5:157055478-157055478	thyroid	other; neoplasm	Substitution - coding silent
c.866C>T; p.T289M; 5:157037333-157037333	breast	carcinoma	Substitution - Missense
c.25A>T; p.S9C; 5:157057919-157057919	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.125T>C; p.V42A; 5:157055455-157055455	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.998G>A; p.S333N; 5:157029830-157029830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.433C>T; p.R145*; 5:157052601-157052601	skin	malignant_melanoma	Substitution - Nonsense
c.433C>T; p.R145*; 5:157052601-157052601	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.204C>T; p.H68H; 5:157055376-157055376	breast	carcinoma	Substitution - coding silent
c.213T>A; p.Y71*; 5:157055367-157055367	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.93T>C; p.S31S; 5:157055487-157055487	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.420C>T; p.T140T; 5:157052614-157052614	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1044C>A; p.V348V; 5:157029784-157029784	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1044C>T; p.V348V; 5:157029784-157029784	breast	carcinoma	Substitution - coding silent
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	prostate	carcinoma; adenocarcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	lung	carcinoma; non_small_cell_carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	lung	carcinoma; non_small_cell_carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	ovary	carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	breast	carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	breast	carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myeloid_leukaemia	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	ovary	carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	kidney	carcinoma; renal_cell_carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	large_intestine; colon	carcinoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	skin; upper_leg	malignant_melanoma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	central_nervous_system; brain	glioma	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - In frame
c.474_475insACA; p.T160_V161insT; 5:157052559-157052560	central_nervous_system; brain	glioma	Insertion - In frame
c.156T>C; p.C52C; 5:157055424-157055424	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.156T>C; p.C52C; 5:157055424-157055424	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1093T>C; p.*365Q; 5:157029735-157029735	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.87T>G; p.G29G; 5:157055493-157055493	skin; upper_back	malignant_melanoma	Substitution - coding silent
c.343G>A; p.D115N; 5:157055237-157055237	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.87T>G; p.G29G; 5:157055493-157055493	liver	carcinoma	Substitution - coding silent
c.87T>G; p.G29G; 5:157055493-157055493	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.87T>G; p.G29G; 5:157055493-157055493	breast	carcinoma	Substitution - coding silent
c.697C>T; p.Q233*; 5:157049122-157049122	lung	carcinoma; non_small_cell_carcinoma	Substitution - Nonsense
c.87T>G; p.G29G; 5:157055493-157055493	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.939C>T; p.V313V; 5:157037260-157037260	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.992C>T; p.S331L; 5:157029836-157029836	skin	malignant_melanoma	Substitution - Missense
c.992C>T; p.S331L; 5:157029836-157029836	skin	malignant_melanoma	Substitution - Missense
c.565_567delAGC; p.S189delS; 5:157052467-157052469	skin	malignant_melanoma	Deletion - In frame
c.266C>T; p.S89F; 5:157055314-157055314	skin	malignant_melanoma	Substitution - Missense
c.601A>G; p.S201G; 5:157052433-157052433	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.349A>G; p.K117E; 5:157055231-157055231	liver	carcinoma	Substitution - Missense
c.619A>G; p.T207A; 5:157052415-157052415	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.349A>G; p.K117E; 5:157055231-157055231	liver	carcinoma	Substitution - Missense
c.686C>T; p.P229L; 5:157049133-157049133	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.942C>T; p.I314I; 5:157037257-157037257	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.794C>T; p.T265I; 5:157042670-157042670	skin	malignant_melanoma	Substitution - Missense
c.492A>C; p.T164T; 5:157052542-157052542	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1039_1040GA>A; p.E347fs*>18; 5:157029788-157029789	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Complex - frameshift
c.1030G>T; p.V344F; 5:157029798-157029798	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.111C>G; p.H37Q; 5:157055469-157055469	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.455C>T; p.T152M; 5:157052579-157052579	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.986+9G>A; p.?; 5:157032845-157032845	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.109C>A; p.H37N; 5:157055471-157055471	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.434G>A; p.R145Q; 5:157052600-157052600	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.748_749CC>TT; p.P250F; 5:157049070-157049071	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.434G>A; p.R145Q; 5:157052600-157052600	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.434G>A; p.R145Q; 5:157052600-157052600	skin	malignant_melanoma	Substitution - Missense
c.331G>A; p.G111R; 5:157055249-157055249	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.528G>A; p.T176T; 5:157052506-157052506	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.683C>T; p.S228L; 5:157049136-157049136	skin	malignant_melanoma	Substitution - Missense
c.528G>A; p.T176T; 5:157052506-157052506	skin	malignant_melanoma	Substitution - coding silent
c.473_474insGCA; p.M158_T159insQ; 5:157052560-157052561	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Insertion - In frame
c.1014A>T; p.K338N; 5:157029814-157029814	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.564G>A; p.T188T; 5:157052470-157052470	skin	malignant_melanoma	Substitution - coding silent
c.476_477insAAC; p.T160_V161insT; 5:157052557-157052558	ovary	carcinoma; serous_carcinoma	Insertion - In frame
c.607C>T; p.P203S; 5:157052427-157052427	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.462_463insACT; p.T155_V156insT; 5:157052571-157052572	breast	carcinoma; ductal_carcinoma	Insertion - In frame
c.622G>A; p.V208I; 5:157052412-157052412	skin	malignant_melanoma	Substitution - Missense
c.600A>T; p.T200T; 5:157052434-157052434	lung	carcinoid-endocrine_tumour; atypical	Substitution - coding silent
c.545T>C; p.M182T; 5:157052489-157052489	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.719C>T; p.T240M; 5:157049100-157049100	central_nervous_system; brain	glioma	Substitution - Missense
c.305T>C; p.V102A; 5:157055275-157055275	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.595A>G; p.T199A; 5:157052439-157052439	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.304G>A; p.V102I; 5:157055276-157055276	pancreas	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]