Entrez Gene

Basic Information
Gene ID	2623
Name	GATA1
Synonymous	GATA binding protein 1 (globin transcription factor 1);GATA1;GATA binding protein 1 (globin transcription factor 1)
Definition	GATA-binding factor 1\|NF-E1 DNA-binding protein\|erythroid transcription factor\|erythroid transcription factor 1\|globin transcription factor 1\|nuclear factor, erythroid 1\|transcription factor GATA1
Position	Xp11.23
Gene Type	protein-coding

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

c.920G>A; p.R307H; 23:48793842-48793842	breast	carcinoma	Substitution - Missense
c.174G>A; p.A58A; 23:48791283-48791283	breast	carcinoma	Substitution - coding silent
c.1102G>T; p.G368C; 23:48794024-48794024	breast	carcinoma	Substitution - Missense
c.294C>T; p.Y98Y; 23:48791917-48791917	breast	carcinoma	Substitution - coding silent
c.389C>A; p.T130N; 23:48792012-48792012	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1017G>A; p.G339G; 23:48793939-48793939	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.312C>T; p.Y104Y; 23:48791935-48791935	central_nervous_system; brain	glioma	Substitution - coding silent
c.340G>A; p.E114K; 23:48791963-48791963	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.496C>A; p.P166T; 23:48792119-48792119	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.195C>T; p.D65D; 23:48791304-48791304	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.143C>A; p.T48N; 23:48791252-48791252	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.99C>A; p.F33L; 23:48791208-48791208	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.739C>T; p.R247C; 23:48792463-48792463	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.228G>T; p.Q76H; 23:48791851-48791851	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.679G>A; p.A227T; 23:48792403-48792403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.913C>T; p.R305*; 23:48793835-48793835	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.836G>T; p.C279F; 23:48793263-48793263	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.150G>A; p.P50P; 23:48791259-48791259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.798G>A; p.T266T; 23:48793225-48793225	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.359C>T; p.A120V; 23:48791982-48791982	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.185_188delACTA; p.Y62fs*74; 23:48791294-48791297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.145_146insG; p.A49fs*19; 23:48791254-48791255	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.232_233insGT; p.Y78fs*60; 23:48791855-48791856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.232_233insGT; p.Y78fs*60; 23:48791855-48791856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.156_157insCA; p.A53fs*85; 23:48791266-48791267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.220_229del10; p.V74fs*60; 23:48791329-48791852	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.232_233insGT; p.Y78fs*60; 23:48791855-48791856	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.124_125insTTGG; p.D42fs*27; 23:48791233-48791234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.145_146insG; p.A49fs*19; 23:48791254-48791255	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.124_125insTTGG; p.D42fs*27; 23:48791233-48791234	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.43_44insC; p.L15fs*25; 23:48791152-48791153	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.43_44insC; p.L15fs*25; 23:48791152-48791153	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.148_149ins20; p.P50fs*94; 23:48791258-48791259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.102_103insAGAA; p.P35fs*6; 23:48791211-48791212	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.153_175del23; p.A53fs*7; 23:48791262-48791284	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.221_598del378; p.?; 23:48791844-48792221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.143_168del26; p.T48fs*11; 23:48791252-48791277	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.143_168del26; p.T48fs*11; 23:48791252-48791277	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.221_598del378; p.?; 23:48791844-48792221	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Unknown
c.173_174ins16; p.A58fs*15; 23:48791282-48791283	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.893G>A; p.R298Q; 23:48793815-48793815	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.150delG; p.P50fs*87; 23:48791259-48791259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.37G>T; p.E13*; 23:48791146-48791146	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.150delG; p.P50fs*87; 23:48791259-48791259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.37G>T; p.E13*; 23:48791146-48791146	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.150delG; p.P50fs*87; 23:48791259-48791259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.1A>C; p.M1L; 23:48791110-48791110	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.150delG; p.P50fs*87; 23:48791259-48791259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.161_162ins11; p.T54fs*87; 23:48791270-48791271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.193_194ins19; p.D65fs*9; 23:48791303-48791304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.43_44delCT; p.L15fs*24; 23:48791152-48791153	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.185_186ins12; p.Y62>*; 23:48791294-48791295	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.43_44delCT; p.L15fs*24; 23:48791152-48791153	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.147_148ins58; p.A49fs*37; 23:48791256-48791257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.220+2T>C; p.?; 23:48791331-48791331	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.147_148ins58; p.A49fs*37; 23:48791256-48791257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.5_7AGT>C; p.E2fs*37; 23:48791114-48791116	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.189_190ins13; p.R64fs*8; 23:48791298-48791299	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.189_190ins13; p.R64fs*8; 23:48791298-48791299	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.189C>A; p.Y63*; 23:48791298-48791298	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.114_115insT; p.E39fs*1; 23:48791223-48791224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.114_115insT; p.E39fs*1; 23:48791223-48791224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.189_199>33; p.Y63fs*78; 23:48791298-48791308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.5A>G; p.E2G; 23:48791114-48791114	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.745-48C>T; p.?; 23:48793124-48793124	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Unknown
c.217_218delCC; p.P73fs*88; 23:48791326-48791327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.2T>G; p.M1R; 23:48791111-48791111	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.217_218delCC; p.P73fs*88; 23:48791326-48791327	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.207C>G; p.Y69*; 23:48791316-48791316	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.192_193ins11; p.D65fs*76; 23:48791301-48791302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.44_45insCCCT; p.Q17fs*24; 23:48791153-48791154	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.192_193ins11; p.D65fs*76; 23:48791301-48791302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.158_159insCGCAGCT; p.A53fs*16; 23:48791267-48791268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.201G>A; p.E67E; 23:48791310-48791310	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.158_159insCGCAGCT; p.A53fs*16; 23:48791267-48791268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.135_158>ACAG; p.A45fs*15; 23:48791244-48791267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.38_39delAG; p.E13fs*26; 23:48791147-48791148	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.38_39delAG; p.E13fs*26; 23:48791147-48791148	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.38_39delAG; p.E13fs*26; 23:48791147-48791148	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.164_178>22; p.A55fs*15; 23:48791273-48791287	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.534C>A; p.S178R; 23:48792157-48792157	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.193_199GACGCTG>TAGTAGT; p.D65_E67>***; 23:48791302-48791308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - compound substitution
c.193_194insNNNNN; p.D65fs*74; 23:48791302-48791303	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.744+5G>A; p.?; 23:48792473-48792473	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.138_139insC; p.S47fs*21; 23:48791247-48791248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.138_139insC; p.S47fs*21; 23:48791247-48791248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.183_193del11; p.Y62fs*2; 23:48791292-48791302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.56_57delTG; p.V19fs*20; 23:48791165-48791166	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.174_175insCAGCTGCG; p.A59fs*81; 23:48791283-48791284	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.378A>G; p.G126G; 23:48792001-48792001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - coding silent
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1028G>T; p.S343I; 23:48793950-48793950	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.220G>A; p.V74I; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.186_187insT; p.Y62fs*5; 23:48791295-48791296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.186_187insT; p.Y62fs*5; 23:48791295-48791296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.186_187insT; p.Y62fs*5; 23:48791295-48791296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.185_186insA; p.Y62fs*1; 23:48791294-48791295	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.174_177GGCA>TGCGGTGG; p.L60fs*9; 23:48791283-48791286	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.1-48_1-24del; p.?; 23:48791062-48791086	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.151_162>TG; p.S51fs*83; 23:48791260-48791271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.1073_1074insC; p.G359fs*19; 23:48793995-48793996	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.49C>T; p.Q17*; 23:48791158-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.106_107insT; p.S36fs*4; 23:48791215-48791216	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.209_210delGA; p.R70fs*91; 23:48791318-48791319	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.300G>22; p.G99_K100insNRRLETS; 23:48791923-48791923	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.32C>A; p.T11N; 23:48791141-48791141	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.189C>G; p.Y63*; 23:48791298-48791298	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.2_3insT; p.M1fs; 23:48791111-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.133_154del22; p.A45fs*85; 23:48791242-48791263	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.2_3TG>AT; p.M1N; 23:48791111-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.212_220del9; p.H71_V74>L; 23:48791321-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - deletion inframe
c.186_187insCCTAC; p.Y63fs*76; 23:48791296-48791297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.1A>G; p.M1V; 23:48791110-48791110	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.194_195ins14; p.E67fs*75; 23:48791303-48791304	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1A>G; p.M1V; 23:48791110-48791110	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1A>G; p.M1V; 23:48791110-48791110	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.1A>G; p.M1V; 23:48791110-48791110	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.164_220del57; p.A55_V74del; 23:48791273-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - In frame
c.219A>C; p.V74_C199del; 23:48791328-48791328	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - In frame
c.105_106insC; p.P35fs*4; 23:48791214-48791215	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.173_1754insCTGCAGC; p.A59fs*11; 23:48791283-48791284	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.105_106insC; p.P35fs*4; 23:48791214-48791215	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.3G>A; p.M1I; 23:48791112-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.3G>A; p.M1I; 23:48791112-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.29_30delGG; p.G10fs*29; 23:48791138-48791139	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.3G>A; p.M1I; 23:48791112-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.3G>A; p.M1I; 23:48791112-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.3G>A; p.M1I; 23:48791112-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.4G>T; p.E2*; 23:48791113-48791113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.4G>T; p.E2*; 23:48791113-48791113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.4G>T; p.E2*; 23:48791113-48791113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.98_132del35; p.F33fs*23; 23:48791207-48791241	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.191_192ins10; p.R64fs*7; 23:48791300-48791301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.4G>T; p.E2*; 23:48791113-48791113	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.221-1G>A; p.?; 23:48791843-48791843	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Unknown
c.31_32insA; p.T11fs*29; 23:48791140-48791141	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.155_156insC; p.A53fs*15; 23:48791265-48791266	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.124_220del97; p.D42_D74>; 23:48791233-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - deletion inframe
c.124_220del97; p.D42_D74>; 23:48791233-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - deletion inframe
c.124_220del97; p.D42_D74>; 23:48791233-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - deletion inframe
c.180_181ins11; p.L60fs*80; 23:48791289-48791290	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.199G>T; p.E67*; 23:48791308-48791308	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.181_182ins13; p.A61fs*11; 23:48791290-48791291	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.220+1G>C; p.?; 23:48791330-48791330	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Unknown
c.745-51C>T; p.?; 23:48793121-48793121	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia	Unknown
c.176_177ins20; p.A59fs*85; 23:48791285-48791286	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.?; p.?; 23:48792223-48792223	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Unknown
c.33_34ins16; p.T11fs*33; 23:48791142-48791143	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.133_160>23; p.A45fs*21; 23:48791242-48791269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.101_108delTCCCCTCT; p.F34fs*3; 23:48791210-48791217	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.101_108delTCCCCTCT; p.F34fs*3; 23:48791210-48791217	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.114_159del46; p.E39fs*83; 23:48791223-48791268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.114_159del46; p.E39fs*83; 23:48791223-48791268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.192_193ins29; p.D65fs*82; 23:48791301-48791302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.149_151insTGGCT; p.S51fs*2; 23:48791259-48791260	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.418C>T; p.R140W; 23:48792041-48792041	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.418C>T; p.R140W; 23:48792041-48792041	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - Missense
c.154_155insCAGC; p.T52fs*17; 23:48791263-48791264	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.172_173insNNNNN; p.A58fs*81; 23:48791281-48791282	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.21_22insG; p.S8fs*32; 23:48791130-48791131	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.21_22insG; p.S8fs*32; 23:48791130-48791131	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.195_196insCCAGTGCC; p.A66fs*74; 23:48791304-48791305	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.160_161ins10; p.T54fs*17; 23:48791269-48791270	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.173_174ins19; p.A59fs*15; 23:48791283-48791284	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1_220del220; p.M1fs; 23:48791110-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.114_160del47; p.P38fs*14; 23:48791223-48791269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.114_160del47; p.P38fs*14; 23:48791223-48791269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.186_187insTGGCCTAC; p.Y63fs*77; 23:48791296-48791297	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.149_150insG; p.S51fs*17; 23:48791258-48791259	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.159_160insTC; p.T54fs*84; 23:48791269-48791270	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.205_217del13; p.Y69fs*64; 23:48791314-48791326	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.205_217del13; p.Y69fs*64; 23:48791314-48791326	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.205_217del13; p.Y69fs*64; 23:48791314-48791326	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.4_37>?; p.E2fs*444; 23:48791113-48791146	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.176C>T; p.A59V; 23:48791285-48791285	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.184_185ins19; p.Y62fs*12; 23:48791293-48791294	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.154_161delACAGCCAC; p.T52fs*13; 23:48791263-48791270	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.121_131del11; p.L41fs*23; 23:48791230-48791240	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.21_22insG; p.S8fs*32; 23:48791131-48791132	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.221T>A; p.V74D; 23:48791844-48791844	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.168_172AGCT>TA; p.A56fs*358; 23:48791277-48791281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.160_163ACCG>GCAGTGGCT; p.T54fs*85; 23:48791269-48791272	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.151_193del43; p.S51fs*72; 23:48791260-48791302	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.115G>T; p.E39*; 23:48791224-48791224	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.212_220del9+1_3delGTA; p.?; 23:48791321-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Unknown
c.140_174del35; p.S47fs*9; 23:48791249-48791283	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.212_220del9+1_3delGTA; p.?; 23:48791321-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.158_180del23; p.A53fs*7; 23:48791267-48791289	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.158_180del23; p.A53fs*7; 23:48791267-48791289	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.150_184del35; p.P50fs*6; 23:48791259-48791293	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.54_55ins13; p.V19fs*25; 23:48791163-48791164	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.173_174ins17; p.A59fs*84; 23:48791282-48791283	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.186_187ins10; p.Y62fs*8; 23:48791295-48791296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.186_187ins10; p.Y62fs*8; 23:48791295-48791296	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.187_215del29; p.Y63fs*89; 23:48791296-48791324	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.3G>T; p.M1I; 23:48791112-48791112	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.36_37delAG; p.E13fs*26; 23:48791145-48791146	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.139delT; p.S47fs*90; 23:48791248-48791248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.162_178del17; p.T54fs*8; 23:48791271-48791287	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.195_196insTAGGGAC; p.A66fs*1; 23:48791304-48791305	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.85G>T; p.E29*; 23:48791194-48791194	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.85G>T; p.E29*; 23:48791194-48791194	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.186C>G; p.Y62*; 23:48791295-48791295	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.2T>C; p.M1T; 23:48791111-48791111	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.85G>T; p.E29*; 23:48791194-48791194	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.160_167ACCGCTGC>12; p.T54fs*15; 23:48791269-48791276	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.147_148ins34; p.A49fs*1; 23:48791256-48791257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.202_203insG; p.A68fs*94; 23:48791311-48791312	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.147_148ins34; p.A49fs*1; 23:48791256-48791257	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.89C>G; p.S30*; 23:48791198-48791198	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.191_192insTACAG; p.R64fs*75; 23:48791300-48791301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.758G>C; p.R253P; 23:48793185-48793185	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.48_49delCC; p.P16fs*23; 23:48791157-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.48_49delCC; p.P16fs*23; 23:48791157-48791158	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.220G>T; p.V74F; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.154_155ins10; p.T52fs*19; 23:48791263-48791264	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.220G>T; p.V74F; 23:48791329-48791329	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Missense
c.150_151insNNNNNNN; p.S51fs*19; 23:48791259-48791260	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.193_194insAGGG; p.D65fs*4; 23:48791302-48791303	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.12_13insC; p.P4fs*35; 23:48791121-48791122	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.97_139del43; p.F33fs*90; 23:48791206-48791248	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.193_194ins20; p.D65fs*79; 23:48791302-48791303	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.193_194ins20; p.D65fs*79; 23:48791302-48791303	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.193_194ins20; p.D65fs*79; 23:48791302-48791303	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Insertion - Frameshift
c.157_158insAGCACAG; p.A53fs*17; 23:48791267-48791268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.182C>A; p.A61D; 23:48791291-48791291	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.180_181insT; p.L60fs*7; 23:48791289-48791290	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.392G>A; p.S131N; 23:48792015-48792015	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.219A>G; p.P73P; 23:48791328-48791328	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - coding silent
c.77C>T; p.S26F; 23:48791186-48791186	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS	Substitution - Missense
c.162_162C>TGT; p.A55fs*83; 23:48791271-48791271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Complex - frameshift
c.155_178>G; p.T52fs*8; 23:48791264-48791287	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.171_172insGCACT; p.A59fs*80; 23:48791280-48791281	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.186C>A; p.Y62*; 23:48791295-48791295	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Substitution - Nonsense
c.192_192G>NNN; p.R64fs*74; 23:48791301-48791301	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - frameshift
c.99_100insNNAA; p.F34fs*7; 23:48791208-48791209	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.230_358del129; p.V77_A120>A; 23:48791853-48791981	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Complex - deletion inframe
c.50_78del29; p.Q17fs*13; 23:48791159-48791187	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.50_78del29; p.Q17fs*13; 23:48791159-48791187	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.174_175ins14; p.A58fs*83; 23:48791283-48791284	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Insertion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.174_175ins14; p.A58fs*83; 23:48791283-48791284	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.183_184ins100; p.Y62fs*11; 23:48791292-48791293	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.90_91delAG; p.S30fs*9; 23:48791199-48791200	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myeloproliferative_neoplasm	Deletion - Frameshift
c.37G>A; p.E13K; 23:48791146-48791146	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1068delC; p.P358fs*>56; 23:48793990-48793990	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.449C>A; p.P150H; 23:48792072-48792072	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.220+2T>C; p.?; 23:48791331-48791331	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.300G>T; p.K100N; 23:48791923-48791923	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.757C>T; p.R253W; 23:48793184-48793184	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.88T>C; p.S30P; 23:48791197-48791197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>T; p.Q119H; 23:48791980-48791980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.338G>T; p.R113L; 23:48791961-48791961	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.360C>T; p.A120A; 23:48791983-48791983	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.173C>T; p.A58V; 23:48791282-48791282	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49C>T; p.Q17*; 23:48791158-48791158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.282C>T; p.A94A; 23:48791905-48791905	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.218C>A; p.P73Q; 23:48791327-48791327	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.832G>A; p.V278M; 23:48793259-48793259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1176C>G; p.G392G; 23:48794098-48794098	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.78C>A; p.S26S; 23:48791187-48791187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.90A>G; p.S30S; 23:48791199-48791199	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.50A>G; p.Q17R; 23:48791159-48791159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1096G>T; p.G366C; 23:48794018-48794018	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.187T>C; p.Y63H; 23:48791296-48791296	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.154A>G; p.T52A; 23:48791263-48791263	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>A; p.A227T; 23:48792403-48792403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1030G>A; p.G344R; 23:48793952-48793952	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.38A>G; p.E13G; 23:48791147-48791147	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.227A>C; p.Q76P; 23:48791850-48791850	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.87A>T; p.E29D; 23:48791196-48791196	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2T>C; p.M1T; 23:48791111-48791111	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.155C>T; p.T52I; 23:48791264-48791264	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.149C>A; p.P50Q; 23:48791258-48791258	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.982G>A; p.E328K; 23:48793904-48793904	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.9C>A; p.F3L; 23:48791118-48791118	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.676A>G; p.N226D; 23:48792400-48792400	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.723C>A; p.L241L; 23:48792447-48792447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1153C>A; p.P385T; 23:48794075-48794075	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1018G>A; p.G340S; 23:48793940-48793940	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699G>A; p.K233K; 23:48792423-48792423	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.387C>A; p.S129R; 23:48792010-48792010	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.261C>A; p.I87I; 23:48791884-48791884	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.226C>G; p.Q76E; 23:48791849-48791849	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.588G>T; p.L196L; 23:48792211-48792211	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.89C>A; p.S30*; 23:48791198-48791198	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.582C>A; p.L194L; 23:48792205-48792205	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1131C>T; p.S377S; 23:48794053-48794053	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.336C>A; p.T112T; 23:48791959-48791959	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.907C>T; p.Q303*; 23:48793829-48793829	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.920G>T; p.R307L; 23:48793842-48793842	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.849_850CC>AA; p.G283>?; 23:48793276-48793277	lung	carcinoma; small_cell_carcinoma	Complex
c.161_162CC>AT; p.T54N; 23:48791270-48791271	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.647G>A; p.R216Q; 23:48792371-48792371	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.338G>A; p.R113H; 23:48791961-48791961	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.297C>T; p.G99G; 23:48791920-48791920	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.361G>A; p.V121M; 23:48791984-48791984	pancreas	carcinoma	Substitution - Missense
c.1172C>T; p.T391M; 23:48794094-48794094	prostate	carcinoma	Substitution - Missense
c.498T>C; p.P166P; 23:48792121-48792121	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146C>T; p.F382F; 23:48794068-48794068	skin	malignant_melanoma	Substitution - coding silent
c.1146C>T; p.F382F; 23:48794068-48794068	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.287G>A; p.W96*; 23:48791910-48791910	skin	malignant_melanoma	Substitution - Nonsense
c.288_289GG>AA; p.W96_A97>*; 23:48791911-48791912	skin; head_neck	carcinoma; squamous_cell_carcinoma	Complex - deletion inframe
c.3G>A; p.M1I; 23:48791112-48791112	skin	malignant_melanoma	Substitution - Missense
c.306G>A; p.G102G; 23:48791929-48791929	skin	malignant_melanoma	Substitution - coding silent
c.1201C>T; p.P401S; 23:48794123-48794123	skin	malignant_melanoma	Substitution - Missense
c.124G>A; p.D42N; 23:48791233-48791233	skin	malignant_melanoma	Substitution - Missense
c.951G>A; p.R317R; 23:48793873-48793873	skin	malignant_melanoma	Substitution - coding silent
c.30G>A; p.G10G; 23:48791139-48791139	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1070C>T; p.P357L; 23:48793992-48793992	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.808C>T; p.R270W; 23:48793235-48793235	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.818C>T; p.A273V; 23:48793245-48793245	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1161G>T; p.L387L; 23:48794083-48794083	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.105C>A; p.P35P; 23:48791214-48791214	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.149C>T; p.P50L; 23:48791258-48791258	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.560C>T; p.S187F; 23:48792183-48792183	urinary_tract; bladder	carcinoma	Substitution - Missense
c.649A>G; p.R217G; 23:48792373-48792373	urinary_tract; bladder	carcinoma	Substitution - Missense
c.516C>A; p.F172L; 23:48792139-48792139	urinary_tract; bladder	carcinoma	Substitution - Missense
c.226C>T; p.Q76*; 23:48791849-48791849	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.59A>T; p.D20V; 23:48791168-48791168	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.59A>T; p.D20V; 23:48791168-48791168	urinary_tract; bladder	carcinoma	Substitution - Missense
c.303G>A; p.T101T; 23:48791926-48791926	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.347C>G; p.S116C; 23:48791970-48791970	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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