Entrez Gene

Basic Information
Gene ID	2776
Name	GNAQ
Synonymous	guanine nucleotide binding protein (G protein), q polypeptide;GNAQ;guanine nucleotide binding protein (G protein), q polypeptide
Definition	guanine nucleotide-binding protein G(q) subunit alpha\|guanine nucleotide-binding protein alpha-q
Position	9q21
Gene Type	protein-coding

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

c.321+8C>T; p.?; 9:77922153-77922153	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Unknown
c.303C>A; p.Y101*; 9:77922179-77922179	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Nonsense
c.286A>T; p.T96S; 9:77922196-77922196	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.168C>T; p.I56I; 9:77922314-77922314	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.492G>T; p.L164F; 9:77797633-77797633	breast	carcinoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	central_nervous_system; posterior_fossa	glioma; astrocytoma_Grade_I	Substitution - Missense
c.932A>C; p.K311T; 9:77721471-77721471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.211G>T; p.D71Y; 9:77922271-77922271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.693G>A; p.A231A; 9:77794505-77794505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.340C>T; p.R114*; 9:77815752-77815752	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1002C>T; p.T334T; 9:77721401-77721401	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.612C>T; p.V204V; 9:77794586-77794586	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.626A>G; p.Q209R; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>G; p.Q209R; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>G; p.Q209R; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.627A>T; p.Q209H; 9:77794571-77794571	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.627A>C; p.Q209H; 9:77794571-77794571	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.627A>C; p.Q209H; 9:77794571-77794571	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.625C>A; p.Q209K; 9:77794573-77794573	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	melanocytoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye	benign_melanocytic_nevus; nevus_of_Ota	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; epithelioid	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.629G>A; p.R210K; 9:77794569-77794569	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.544G>A; p.V182I; 9:77797581-77797581	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.625_627CAA>TAT; p.Q209Y; 9:77794571-77794573	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.524C>G; p.T175R; 9:77797601-77797601	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye	benign_melanocytic_nevus; nevus_of_Ota	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; spindle	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma; mixed	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	eye; uveal_tract	malignant_melanoma	Substitution - Missense
c.303C>A; p.Y101*; 9:77922179-77922179	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Nonsense
c.286A>T; p.T96S; 9:77922196-77922196	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma	Substitution - Missense
c.1002C>T; p.T334T; 9:77721401-77721401	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.796_808del13; p.N266fs*4; 9:77728595-77728607	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.796_808del13; p.N266fs*4; 9:77728595-77728607	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Deletion - Frameshift
c.125T>G; p.L42R; 9:78031111-78031111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.683T>G; p.F228C; 9:77794515-77794515	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.542G>C; p.R181T; 9:77797583-77797583	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>T; p.E307*; 9:77721484-77721484	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.576C>T; p.Y192Y; 9:77797549-77797549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.117G>A; p.E39E; 9:78031119-78031119	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.254C>T; p.T85M; 9:77922228-77922228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.403T>G; p.L135V; 9:77815689-77815689	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.547C>T; p.R183*; 9:77797578-77797578	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.7C>T; p.L3L; 9:78031229-78031229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.110G>A; p.R37H; 9:78031126-78031126	large_intestine; colon	carcinoma	Substitution - Missense
c.110G>A; p.R37H; 9:78031126-78031126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.803C>T; p.S268L; 9:77728600-77728600	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.524C>T; p.T175M; 9:77797601-77797601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.673T>C; p.S225P; 9:77794525-77794525	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.545T>C; p.V182A; 9:77797580-77797580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.523A>T; p.T175S; 9:77797602-77797602	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.523A>T; p.T175S; 9:77797602-77797602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.105C>T; p.D35D; 9:78031131-78031131	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.306G>T; p.K102N; 9:77922176-77922176	liver	carcinoma	Substitution - Missense
c.306G>T; p.K102N; 9:77922176-77922176	liver	carcinoma	Substitution - Missense
c.740G>T; p.R247L; 9:77728663-77728663	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.991G>T; p.A331S; 9:77721412-77721412	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.191G>T; p.G64V; 9:77922291-77922291	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.436G>C; p.D146H; 9:77815656-77815656	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.214A>G; p.K72E; 9:77922268-77922268	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.231G>A; p.K77K; 9:77922251-77922251	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.286A>T; p.T96S; 9:77922196-77922196	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.943G>A; p.D315N; 9:77721460-77721460	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	meninges	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.548G>A; p.R183Q; 9:77797577-77797577	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytic_neoplasm	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytic_neoplasm	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytic_neoplasm	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytic_neoplasm	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	melanocytoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	meninges	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	NS	malignant_melanoma	Substitution - Missense
c.499G>A; p.V167I; 9:77797626-77797626	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.868G>A; p.D290N; 9:77728535-77728535	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.E249K; 9:77728658-77728658	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1070A>G; p.N357S; 9:77721333-77721333	pancreas	carcinoma	Substitution - Missense
c.303C>A; p.Y101*; 9:77922179-77922179	prostate	carcinoma; adenocarcinoma	Substitution - Nonsense
c.286A>T; p.T96S; 9:77922196-77922196	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.286A>T; p.T96S; 9:77922196-77922196	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1075G>A; p.V359I; 9:77721328-77721328	skin	malignant_melanoma	Substitution - Missense
c.1075G>A; p.V359I; 9:77721328-77721328	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin; ear	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>C; p.Q209P; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.1018G>C; p.V340L; 9:77721385-77721385	skin	malignant_melanoma	Substitution - Missense
c.1053G>A; p.L351L; 9:77721350-77721350	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1067A>G; p.Y356C; 9:77721336-77721336	skin	malignant_melanoma	Substitution - Missense
c.564G>A; p.G188G; 9:77797561-77797561	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.899G>A; p.R300K; 9:77721504-77721504	skin	malignant_melanoma	Substitution - Missense
c.905C>G; p.A302G; 9:77721498-77721498	skin	malignant_melanoma	Substitution - Missense
c.31C>T; p.L11L; 9:78031205-78031205	skin	malignant_melanoma	Substitution - coding silent
c.632C>T; p.S211L; 9:77794566-77794566	skin	malignant_melanoma	Substitution - Missense
c.365C>T; p.S122F; 9:77815727-77815727	skin	malignant_melanoma	Substitution - Missense
c.553C>T; p.P185S; 9:77797572-77797572	skin	malignant_melanoma	Substitution - Missense
c.291C>G; p.L97L; 9:77922191-77922191	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.625_626CA>TT; p.Q209L; 9:77794572-77794573	skin; forearm	benign_melanocytic_nevus; blue	Substitution - Missense
c.625_626CA>TT; p.Q209L; 9:77794572-77794573	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.625_626CA>TT; p.Q209L; 9:77794572-77794573	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.625_626CA>TT; p.Q209L; 9:77794572-77794573	skin; hand	benign_melanocytic_nevus; blue	Substitution - Missense
c.625_626CA>TT; p.Q209L; 9:77794572-77794573	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.625_626CA>TT; p.Q209L; 9:77794572-77794573	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; hand	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; upper_leg	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; foot	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; hand	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; hand	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	malignant_melanoma; malignant_blue_nevus	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; hand	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; foot	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; upper_arm	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; forearm	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; upper_arm	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; back	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; chronically_sun_exposed_site	malignant_melanoma	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; forearm	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; scalp	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin; buttock	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.626A>T; p.Q209L; 9:77794572-77794572	skin	benign_melanocytic_nevus; blue	Substitution - Missense
c.105C>T; p.D35D; 9:78031131-78031131	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - coding silent
c.1079A>G; p.360; 9:77721324-77721324	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1035G>T; p.K345N; 9:77721368-77721368	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.826A>G; p.K276E; 9:77728577-77728577	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.442C>T; p.R148*; 9:77815650-77815650	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.254C>T; p.T85M; 9:77922228-77922228	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.1067A>C; p.Y356S; 9:77721336-77721336	thyroid	other; neoplasm	Substitution - Missense
c.974A>T; p.Y325F; 9:77721429-77721429	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.758C>T; p.A253V; 9:77728645-77728645	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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