Entrez Gene

Basic Information
Gene ID	5781
Name	PTPN11
Synonymous	BPTP3\|CFC\|NS1\|PTP-1D\|PTP2C\|SH-PTP2\|SH-PTP3\|SHP2;protein tyrosine phosphatase, non-receptor type 11;PTPN11;protein tyrosine phosphatase, non-receptor type 11
Definition	PTP-2C\|protein tyrosine phosphatase-2\|protein-tyrosine phosphatase 1D\|protein-tyrosine phosphatase 2C\|tyrosine-protein phosphatase non-receptor type 11
Position	12q24
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP germline mutation [Top]
PTPN11_G503R; chr12; 112926887	SUB; MISSENSE; G; C/C; GERMLINE	HYPO; VALID; TARGETED_SEQUENCING

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
PTPN11_T507K; chr12; 112926900	SUB; MISSENSE; C; C/A; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
PTPN11_S502L; chr12; 112926885	SUB; MISSENSE; C; C/T; SOMATIC	HYPO; VALID; TARGETED_SEQUENCING
PTPN11_G503V; chr12; 112926888	SUB; MISSENSE; G; G/T; SOMATIC	RHB; PUTATIVE-HQ; EXOME
PTPN11_A72V; chr12; 112888199	SUB; MISSENSE; C; C/T; SOMATIC	T-ALL; VALID;
PTPN11_S502P; chr12; 112926884	SUB; MISSENSE; T; T/C; SOMATIC	T-ALL; VALID;
PTPN11_T73I; chr12; 112888202	SUB; MISSENSE; C; C/T; SOMATIC	T-ALL; VALID;

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.658C>T; p.R220C;	large_intestine	carcinoma; adenocarcinoma
c.836A>G; p.Y279C;	liver	carcinoma; hepatocellular_carcinoma
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.181G>A; p.D61N; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.181G>C; p.D61H; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.213T>A; p.F71L; 12:111372580-111372580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1504T>G; p.S502A; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS
c.214G>A; p.A72T; 12:111372581-111372581	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>A; p.A72D; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.455G>A; p.R152H; 12:111375504-111375504	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>A; p.A72D; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related
c.1504T>C; p.S502P; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.?; p.E76G;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.182A>G; p.D61G; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.172A>T; p.N58Y; 12:111372539-111372539	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.922A>G; p.N308D; 12:111399906-111399906	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1505C>T; p.S502L; 12:111411268-111411268	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.220T>A; p.L74M; 12:111372587-111372587	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.211T>C; p.F71L; 12:111372578-111372578	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.?; p.G60V;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.?; p.T507K;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.181G>C; p.D61H; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1504T>C; p.S502P; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1505C>T; p.S502L; 12:111411268-111411268	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.178G>C; p.G60R; 12:111372545-111372545	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1528C>A; p.Q510K; 12:111411291-111411291	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.181G>C; p.D61H; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1504T>C; p.S502P; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.417G>C; p.E139D; 12:111375466-111375466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.Q510L;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	lung	carcinoma; adenocarcinoma
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1254C>A; p.Y418*; 12:111408691-111408691	lung	carcinoma; adenocarcinoma
c.1505C>T; p.S502L; 12:111411268-111411268	lung	carcinoma; adenocarcinoma
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.?; p.E76K;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.E76K;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1403C>T; p.T468M;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.172A>T; p.N58Y; 12:111372539-111372539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.178G>C; p.G60R; 12:111372545-111372545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.172A>T; p.N58Y; 12:111372539-111372539	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.417G>C; p.E139D; 12:111375466-111375466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.540C>T; p.D180D;	NS	malignant_melanoma
c.?; p.Q510H;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia
c.1296T>G; p.P432P;	skin; foot	malignant_melanoma; acral_lentiginous
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.541G>A; p.V181I;	large_intestine; colon	carcinoma; adenocarcinoma
c.227A>G; p.E76G; 12:111372594-111372594	large_intestine; colon	carcinoma; adenocarcinoma
c.675A>C; p.E225D;	large_intestine; colon	carcinoma; adenocarcinoma
c.974A>C; p.K325T;	large_intestine; colon	carcinoma; adenocarcinoma
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1504T>C; p.S502P; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1508G>A; p.G503E; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1505C>T; p.S502L; 12:111411268-111411268	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.213T>G; p.F71L; 12:111372580-111372580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.213T>A; p.F71L; 12:111372580-111372580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.211_213TTT>AAA; p.F71K; 12:111372578-111372580	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.172A>T; p.N58Y; 12:111372539-111372539	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1471C>T; p.P491S; 12:111411234-111411234	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1472C>T; p.P491L; 12:111411235-111411235	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1504T>C; p.S502P; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1528C>A; p.Q510K; 12:111411291-111411291	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>A; p.A72D; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.1472C>T; p.P491L; 12:111411235-111411235	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1520C>A; p.T507K; 12:111411283-111411283	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.E76V;	lung	carcinoma; adenocarcinoma
c.?; p.E69K;	autonomic_ganglia	neuroblastoma
c.?; p.T507K;	autonomic_ganglia	neuroblastoma
c.?; p.E76G;	large_intestine; colon	carcinoma; adenocarcinoma
c.?; p.D61Y;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.E69V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.R289G;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.G503V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.R138Q;	NS	malignant_melanoma
c.178G>C; p.G60R; 12:111372545-111372545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>A; p.D61N; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.417G>C; p.E139D; 12:111375466-111375466	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>C; p.G60A; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.188A>G; p.Y63C; 12:111372555-111372555	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.211T>C; p.F71L; 12:111372578-111372578	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.48A>G; p.A16A; 12:111368496-111368496	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.E69G;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.F71K;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.T73I;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.E76G;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.E76V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.S502L;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.S502P;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.G503A;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.155C>G; p.T52S; 12:111372522-111372522	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.218C>T; p.T73I; 12:111372585-111372585	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>C; p.E76Q; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.227A>C; p.E76A; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.227A>T; p.E76V; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.229T>G; p.L77V; 12:111372596-111372596	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1504T>A; p.S502T; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1507G>A; p.G503R; 12:111411270-111411270	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.1507_1508GG>CT; p.G503L; 12:111411270-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1508G>A; p.G503E; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.A72V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72T;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.E76V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.G503A;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.155C>G; p.T52S; 12:111372522-111372522	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.178G>C; p.G60R; 12:111372545-111372545	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.182A>G; p.D61G; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226G>A; p.E76K; 12:111372593-111372593	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.226_227GA>AT; p.E76M; 12:111372593-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>C; p.G503A; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.A72V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1508G>T; p.G503V; 12:111411271-111411271	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.G60V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.A72V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.H53Q;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.D61N;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.?; p.G60R;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.D61V;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.?; p.G503A;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia
c.923A>G; p.N308S;	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.205G>A; p.E69K; 12:111372572-111372572	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.213T>A; p.F71L; 12:111372580-111372580	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.181G>T; p.D61Y; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.213T>A; p.F71L; 12:111372580-111372580	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; acute_lymphoblastic_leukaemia
c.616T>C; p.L206L;	adrenal_gland; adrenal_gland	adrenal_cortical_adenoma; aldosterone_producing
c.245T>C; p.M82T;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.214G>A; p.A72T; 12:111372581-111372581	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.966G>A; p.K322K;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.181G>A; p.D61N; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.1379+2T>C; p.?;	oesophagus	carcinoma; adenocarcinoma
c.1064T>C; p.M355T;	oesophagus	carcinoma; adenocarcinoma
c.1459G>T; p.D487Y;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.565T>G; p.S189A;	stomach	carcinoma; adenocarcinoma
c.591T>G; p.Y197*;	stomach	carcinoma; adenocarcinoma
c.616T>C; p.L206L;	stomach	carcinoma; adenocarcinoma
c.?; p.N58S;	lung	carcinoma
c.?; p.V45L;	lung	carcinoma
c.161T>C; p.I54T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1448G>A; p.G483D;	lung	carcinoma; adenocarcinoma
c.1277A>G; p.H426R;	lung	carcinoma; adenocarcinoma
c.1273G>T; p.D425Y;	lung	carcinoma; adenocarcinoma
c.1235A>G; p.E412G;	lung	carcinoma; adenocarcinoma
c.1509G>T; p.G503G;	lung	carcinoma; adenocarcinoma
c.1666G>A; p.D556N;	lung	carcinoma; adenocarcinoma
c.1562A>T; p.Y521F;	lung	carcinoma; adenocarcinoma
c.1520C>A; p.T507K; 12:111411283-111411283	autonomic_ganglia	neuroblastoma
c.227A>C; p.E76A; 12:111372594-111372594	autonomic_ganglia	neuroblastoma
c.214G>A; p.A72T; 12:111372581-111372581	autonomic_ganglia	neuroblastoma
c.1517A>C; p.Q506P;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1281C>G; p.G427G; 12:111408718-111408718	kidney	carcinoma
c.226G>C; p.E76Q; 12:111372593-111372593	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal
c.923A>C; p.N308T;	liver	carcinoma
c.177T>C; p.T59T;	lung	carcinoma; small_cell_carcinoma
c.541G>C; p.V181L;	lung	carcinoma; small_cell_carcinoma
c.1645C>T; p.L549L;	lung	carcinoma; small_cell_carcinoma
c.316G>T; p.D106Y;	kidney	carcinoma; renal_cell_carcinoma
c.1658C>T; p.T553M;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.215C>A; p.A72D; 12:111372582-111372582	autonomic_ganglia	neuroblastoma
c.1381G>A; p.A461T;	autonomic_ganglia	neuroblastoma
c.214G>A; p.A72T; 12:111372581-111372581	autonomic_ganglia	neuroblastoma
c.181G>T; p.D61Y; 12:111372548-111372548	autonomic_ganglia	neuroblastoma
c.205G>A; p.E69K; 12:111372572-111372572	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.846C>G; p.I282M; 12:111395220-111395220	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1527A>T; p.A509A;	ovary	carcinoma; serous_carcinoma
c.906A>G; p.S302S;	lung	carcinoma; squamous_cell_carcinoma
c.1016A>G; p.N339S; 12:111400126-111400126	ovary	carcinoma; serous_carcinoma
c.673G>T; p.E225*;	lung	carcinoma; squamous_cell_carcinoma
c.1651G>A; p.D551N;	lung	carcinoma; adenocarcinoma
c.226G>A; p.E76K; 12:111372593-111372593	lung	carcinoma; squamous_cell_carcinoma
c.1508G>T; p.G503V; 12:111411271-111411271	lung	carcinoma; squamous_cell_carcinoma
c.450T>C; p.S150S;	lung	carcinoma; adenocarcinoma
c.244A>G; p.M82V;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.937G>T; p.E313*;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.1551G>T; p.A517A;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.1506A>G; p.S502S;	large_intestine; colon	carcinoma; adenocarcinoma
c.369G>T; p.E123D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1508G>A; p.G503E; 12:111411271-111411271	large_intestine; colon	carcinoma; adenocarcinoma
c.416A>G; p.E139G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.T507A;	large_intestine; colon	carcinoma; adenocarcinoma
c.174C>A; p.N58K;	large_intestine; colon	carcinoma; adenocarcinoma
c.1473C>A; p.P491P;	large_intestine; colon	carcinoma; adenocarcinoma
c.207G>T; p.E69D;	large_intestine; colon	carcinoma; adenocarcinoma
c.181G>A; p.D61N; 12:111372548-111372548	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1633A>C; p.I545L;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1472C>T; p.P491L; 12:111411235-111411235	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1529A>T; p.Q510L;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.211T>C; p.F71L; 12:111372578-111372578	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.179G>T; p.G60V; 12:111372546-111372546	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.215C>T; p.A72V; 12:111372582-111372582	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1530G>C; p.Q510H;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1504T>C; p.S502P; 12:111411267-111411267	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1302C>T; p.G434G;	large_intestine; colon	carcinoma; adenocarcinoma
c.463G>A; p.D155N;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1509G>A; p.G503G;	large_intestine; rectum	carcinoma; adenocarcinoma
c.181G>T; p.D61Y; 12:111372548-111372548	large_intestine; rectum	NS
c.213T>C; p.F71F;	large_intestine; rectum	NS
c.206A>G; p.E69G;	large_intestine; rectum	NS
c.1521A>G; p.T507T;	large_intestine; rectum	carcinoma; adenocarcinoma
c.463G>T; p.D155Y;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1764G>T; p.Q588H;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1403C>T; p.T468M;	large_intestine; rectum	carcinoma; adenocarcinoma
c.922A>G; p.N308D; 12:111399906-111399906	large_intestine; rectum	carcinoma; adenocarcinoma
c.1150C>T; p.R384C;	endometrium	carcinoma; endometrioid_carcinoma
c.984T>C; p.I328I;	endometrium	carcinoma; endometrioid_carcinoma
c.1382C>G; p.A461G;	endometrium	carcinoma; endometrioid_carcinoma
c.219T>C; p.T73T;	large_intestine; colon	carcinoma; adenocarcinoma
c.172A>G; p.N58D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1519A>G; p.T507A;	large_intestine; caecum	carcinoma; adenocarcinoma
c.188A>G; p.Y63C; 12:111372555-111372555	large_intestine; colon	carcinoma; adenocarcinoma
c.180T>C; p.G60G;	large_intestine; colon	carcinoma; adenocarcinoma
c.1519A>G; p.T507A;	large_intestine; colon	carcinoma; adenocarcinoma
c.349C>T; p.L117F;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.541G>A; p.V181I;	endometrium	carcinoma; endometrioid_carcinoma
c.1387A>C; p.I463L;	endometrium	carcinoma; endometrioid_carcinoma
c.436G>T; p.D146Y;	endometrium	carcinoma; endometrioid_carcinoma
c.711T>C; p.A237A;	endometrium	carcinoma; endometrioid_carcinoma
c.772G>T; p.E258*;	breast	carcinoma
c.1683G>A; p.P561P;	endometrium	carcinoma; endometrioid_carcinoma
c.165G>T; p.K55N;	endometrium	carcinoma; endometrioid_carcinoma
c.1579C>T; p.R527C;	endometrium	carcinoma; endometrioid_carcinoma
c.38G>A; p.G13D;	breast	carcinoma
c.220T>C; p.L74L;	large_intestine; colon	carcinoma; adenocarcinoma
c.156C>T; p.T52T;	large_intestine; colon	carcinoma; adenocarcinoma
c.219T>C; p.T73T;	large_intestine; colon	carcinoma; adenocarcinoma
c.1535G>A; p.R512Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.1621G>A; p.E541K;	large_intestine; colon	carcinoma; adenocarcinoma
c.189T>C; p.Y63Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.206A>G; p.E69G;	large_intestine; colon	carcinoma; adenocarcinoma
c.172A>G; p.N58D;	large_intestine; colon	carcinoma; adenocarcinoma
c.188A>T; p.Y63F;	large_intestine; caecum	carcinoma; adenocarcinoma
c.1473C>A; p.P491P;	large_intestine; colon	carcinoma; adenocarcinoma
c.416A>G; p.E139G;	large_intestine; colon	carcinoma; adenocarcinoma
c.342T>C; p.H114H;	large_intestine; colon	carcinoma; adenocarcinoma
c.205G>A; p.E69K; 12:111372572-111372572	large_intestine; caecum	carcinoma; adenocarcinoma
c.1508G>A; p.G503E; 12:111411271-111411271	large_intestine; colon	carcinoma; adenocarcinoma
c.879C>T; p.H293H;	endometrium	carcinoma; endometrioid_carcinoma
c.1664G>A; p.G555E;	endometrium	carcinoma; endometrioid_carcinoma
c.1016A>G; p.N339S; 12:111400126-111400126	large_intestine; colon	carcinoma; adenocarcinoma
c.1504T>C; p.S502P; 12:111411267-111411267	large_intestine; colon	carcinoma; adenocarcinoma
c.226G>A; p.E76K; 12:111372593-111372593	large_intestine; colon	carcinoma; adenocarcinoma
c.1506A>G; p.S502S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.857A>T; p.D286V;	endometrium	carcinoma; endometrioid_carcinoma
c.172A>G; p.N58D;	large_intestine; caecum	carcinoma; adenocarcinoma
c.211T>C; p.F71L; 12:111372578-111372578	large_intestine; colon	carcinoma; adenocarcinoma
c.172A>G; p.N58D;	large_intestine; colon	carcinoma; adenocarcinoma
c.1473C>T; p.P491P;	large_intestine; colon	carcinoma; adenocarcinoma
c.227A>G; p.E76G; 12:111372594-111372594	large_intestine; rectum	carcinoma; adenocarcinoma
c.1508G>T; p.G503V; 12:111411271-111411271	large_intestine; rectum	carcinoma; adenocarcinoma
c.1016A>G; p.N339S; 12:111400126-111400126	large_intestine; rectum	carcinoma; adenocarcinoma
c.1017T>C; p.N339N;	large_intestine; rectum	carcinoma; adenocarcinoma
c.1504T>C; p.S502P; 12:111411267-111411267	large_intestine; rectum	carcinoma; adenocarcinoma
c.1017T>C; p.N339N;	large_intestine; colon	carcinoma; adenocarcinoma
c.1506A>G; p.S502S;	large_intestine; rectum	carcinoma; adenocarcinoma
c.182A>G; p.D61G; 12:111372549-111372549	large_intestine; colon	carcinoma; adenocarcinoma
c.1508G>T; p.G503V; 12:111411271-111411271	large_intestine; colon	carcinoma; adenocarcinoma
c.1015A>G; p.N339D;	large_intestine; colon	carcinoma; adenocarcinoma
c.205G>A; p.E69K; 12:111372572-111372572	large_intestine; colon	carcinoma; adenocarcinoma
c.1016A>G; p.N339S; 12:111400126-111400126	large_intestine; caecum	carcinoma; adenocarcinoma
c.1016A>G; p.N339S; 12:111400126-111400126	large_intestine; caecum	carcinoma; adenocarcinoma
c.232G>A; p.V78I;	central_nervous_system; brain	glioma; astrocytoma_Grade_II
c.227A>G; p.E76G; 12:111372594-111372594	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1517A>C; p.Q506P;	skin	malignant_melanoma
c.1472C>T; p.P491L; 12:111411235-111411235	skin	malignant_melanoma
c.1273G>A; p.D425N;	skin	malignant_melanoma
c.1529_1530AG>TT; p.Q510L;	skin	malignant_melanoma
c.182A>T; p.D61V; 12:111372549-111372549	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia
c.1424T>C; p.L475P;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma
c.1425T>A; p.L475L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]