| Gene ID | 55959 |
| Symbol | SULF2 |
| Synonymous | HSULF-2 |
| Full name | sulfatase 2 |
| Gene description | extracellular sulfatase Sulf-2 |
| Cytoband | 20q13.12 |
| Gene type | protein-coding |
| Synonymous | MIM:610013; HGNC:HGNC:20392; Ensembl:ENSG00000196562; HPRD:18130; Vega:OTTHUMG00000032675 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2007C>G; p.T669T; 20:47664180-47664180 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1107C>T; p.I369I; 20:47678762-47678762 |
skin | malignant_melanoma | Substitution - coding silent |
c.1180C>T; p.R394W; 20:47678689-47678689 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.231C>A; p.H77Q; 20:47736887-47736887 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1333C>T; p.L445L; 20:47676541-47676541 |
skin | malignant_melanoma | Substitution - coding silent |
c.283A>T; p.I95F; 20:47736835-47736835 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.635C>A; p.P212Q; 20:47690228-47690228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.723C>T; p.N241N; 20:47690140-47690140 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2404G>T; p.V802F; 20:47661863-47661863 |
thyroid | other; neoplasm | Substitution - Missense |
c.202C>T; p.R68W; 20:47736916-47736916 |
skin | malignant_melanoma | Substitution - Missense |
c.634C>T; p.P212S; 20:47690229-47690229 |
skin | malignant_melanoma | Substitution - Missense |
c.247G>A; p.V83M; 20:47736871-47736871 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.317C>T; p.T106I; 20:47736801-47736801 |
skin | malignant_melanoma | Substitution - Missense |
c.783C>A; p.I261I; 20:47684536-47684536 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.599G>A; p.S200N; 20:47690264-47690264 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1503C>T; p.S501S; 20:47672271-47672271 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1503C>T; p.S501S; 20:47672271-47672271 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.324C>A; p.T108T; 20:47736794-47736794 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1146C>A; p.D382E; 20:47678723-47678723 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2506G>A; p.G836R; 20:47659719-47659719 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.246C>T; p.F82F; 20:47736872-47736872 |
skin | malignant_melanoma | Substitution - coding silent |
c.410G>T; p.R137L; 20:47736708-47736708 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1457_1458insG; p.S486fs*22; 20:47672316-47672317 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1824C>T; p.N608N; 20:47665935-47665935 |
liver | carcinoma | Substitution - coding silent |
c.1824C>T; p.N608N; 20:47665935-47665935 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1824C>T; p.N608N; 20:47665935-47665935 |
liver | carcinoma | Substitution - coding silent |
c.2123G>A; p.R708H; 20:47663557-47663557 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.68C>A; p.S23*; 20:47757296-47757296 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.2327C>T; p.T776I; 20:47663113-47663113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2291A>G; p.N764S; 20:47663149-47663149 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1087A>T; p.I363F; 20:47678782-47678782 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1832T>C; p.V611A; 20:47665927-47665927 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526C>T; p.R176W; 20:47702560-47702560 |
skin | malignant_melanoma | Substitution - Missense |
c.2434G>A; p.E812K; 20:47661833-47661833 |
pancreas | carcinoma | Substitution - Missense |
c.617C>T; p.T206M; 20:47690246-47690246 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.937G>A; p.V313I; 20:47683121-47683121 |
skin | malignant_melanoma | Substitution - Missense |
c.879C>T; p.S293S; 20:47684440-47684440 |
skin | malignant_melanoma | Substitution - coding silent |
c.2000A>G; p.Y667C; 20:47664187-47664187 |
prostate | carcinoma | Substitution - Missense |
c.2604G>A; p.W868*; 20:47658371-47658371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.286C>T; p.L96F; 20:47736832-47736832 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.847C>T; p.R283C; 20:47684472-47684472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1221C>A; p.V407V; 20:47677107-47677107 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.11C>T; p.P4L; 20:47757353-47757353 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.205C>A; p.R69S; 20:47736913-47736913 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.303C>T; p.V101V; 20:47736815-47736815 |
skin | malignant_melanoma | Substitution - coding silent |
c.1147G>A; p.G383R; 20:47678722-47678722 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1147G>A; p.G383R; 20:47678722-47678722 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1003T>C; p.Y335H; 20:47683055-47683055 |
skin | malignant_melanoma | Substitution - Missense |
c.1946G>A; p.R649Q; 20:47665250-47665250 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1862T>C; p.L621P; 20:47665897-47665897 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.915C>T; p.G305G; 20:47683143-47683143 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2210C>T; p.T737M; 20:47663470-47663470 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1407G>T; p.T469T; 20:47672367-47672367 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.527G>A; p.R176Q; 20:47702559-47702559 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.527G>A; p.R176Q; 20:47702559-47702559 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.788G>T; p.R263L; 20:47684531-47684531 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2439G>A; p.L813L; 20:47661828-47661828 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687G>A; p.E229E; 20:47690176-47690176 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1580A>G; p.Y527C; 20:47666485-47666485 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.759G>A; p.A253A; 20:47684560-47684560 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1597C>T; p.R533C; 20:47666468-47666468 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.873C>T; p.D291D; 20:47684446-47684446 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.410G>A; p.R137Q; 20:47736708-47736708 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1466T>C; p.L489P; 20:47672308-47672308 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1669G>A; p.A557T; 20:47666396-47666396 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1669G>A; p.A557T; 20:47666396-47666396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>A; p.R137Q; 20:47736708-47736708 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>A; p.R137Q; 20:47736708-47736708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>A; p.R137Q; 20:47736708-47736708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.410G>A; p.R137Q; 20:47736708-47736708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1669G>A; p.A557T; 20:47666396-47666396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717G>A; p.D573N; 20:47666348-47666348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717G>A; p.D573N; 20:47666348-47666348 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.680G>T; p.G227V; 20:47690183-47690183 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.2385G>A; p.V795V; 20:47661882-47661882 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1899C>T; p.H633H; 20:47665860-47665860 |
oesophagus | carcinoma | Substitution - coding silent |
c.1899C>T; p.H633H; 20:47665860-47665860 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1346C>T; p.A449V; 20:47676528-47676528 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122C>T; p.R708C; 20:47663558-47663558 |
liver | carcinoma | Substitution - Missense |
c.393C>G; p.L131L; 20:47736725-47736725 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2122C>T; p.R708C; 20:47663558-47663558 |
liver | carcinoma | Substitution - Missense |
c.871G>T; p.D291Y; 20:47684448-47684448 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1452C>T; p.G484G; 20:47672322-47672322 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.724G>A; p.A242T; 20:47690139-47690139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.724G>A; p.A242T; 20:47690139-47690139 |
skin | malignant_melanoma | Substitution - Missense |
c.654G>A; p.M218I; 20:47690209-47690209 |
skin | malignant_melanoma | Substitution - Missense |
c.415G>A; p.A139T; 20:47736703-47736703 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1383G>A; p.K461K; 20:47672391-47672391 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.384C>A; p.A128A; 20:47736734-47736734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2487G>T; p.M829I; 20:47661780-47661780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747C>A; p.S249R; 20:47684572-47684572 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.241G>A; p.A81T; 20:47736877-47736877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1678C>T; p.R560*; 20:47666387-47666387 |
liver | carcinoma | Substitution - Nonsense |
c.1125G>A; p.L375L; 20:47678744-47678744 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.1203G>C; p.L401F; 20:47677125-47677125 |
breast | carcinoma | Substitution - Missense |
c.1452C>A; p.G484G; 20:47672322-47672322 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.887C>T; p.T296M; 20:47684432-47684432 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.497delA; p.N166fs*14; 20:47702589-47702589 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.543G>A; p.E181E; 20:47702543-47702543 |
skin | malignant_melanoma | Substitution - coding silent |
c.641G>T; p.R214M; 20:47690222-47690222 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.710G>A; p.R237H; 20:47690153-47690153 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.787C>T; p.R263C; 20:47684532-47684532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.476A>G; p.E159G; 20:47702610-47702610 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.787C>T; p.R263C; 20:47684532-47684532 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2057G>T; p.R686M; 20:47664130-47664130 |
kidney | other; neoplasm | Substitution - Missense |
c.2255C>T; p.A752V; 20:47663185-47663185 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2255C>T; p.A752V; 20:47663185-47663185 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1547C>T; p.A516V; 20:47672227-47672227 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.450C>T; p.G150G; 20:47702636-47702636 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1812C>T; p.Y604Y; 20:47665947-47665947 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.409C>A; p.R137R; 20:47736709-47736709 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.409C>A; p.R137R; 20:47736709-47736709 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1228G>A; p.D410N; 20:47677100-47677100 |
NS | malignant_melanoma | Substitution - Missense |
c.1228G>A; p.D410N; 20:47677100-47677100 |
NS | malignant_melanoma | Substitution - Missense |
c.409C>A; p.R137R; 20:47736709-47736709 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2108G>A; p.R703H; 20:47663572-47663572 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.409C>A; p.R137R; 20:47736709-47736709 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.409C>A; p.R137R; 20:47736709-47736709 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2494+1G>A; p.?; 20:47661772-47661772 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1672C>A; p.Q558K; 20:47666393-47666393 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1174A>C; p.T392P; 20:47678695-47678695 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210A>C; p.K404Q; 20:47677118-47677118 |
prostate | adenoma | Substitution - Missense |
c.2342A>T; p.Y781F; 20:47663098-47663098 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.292G>A; p.G98S; 20:47736826-47736826 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.275G>A; p.R92H; 20:47736843-47736843 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1192C>T; p.R398W; 20:47678677-47678677 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Missense |
c.955G>C; p.G319R; 20:47683103-47683103 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.427A>T; p.K143*; 20:47702659-47702659 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.2152G>A; p.D718N; 20:47663528-47663528 |
skin | malignant_melanoma | Substitution - Missense |
c.292G>A; p.G98S; 20:47736826-47736826 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1939G>A; p.E647K; 20:47665257-47665257 |
skin | malignant_melanoma | Substitution - Missense |
c.1069C>T; p.P357S; 20:47678800-47678800 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1069C>T; p.P357S; 20:47678800-47678800 |
skin | malignant_melanoma | Substitution - Missense |
c.1358C>T; p.T453M; 20:47676516-47676516 |
pancreas | NS | Substitution - Missense |
c.246C>A; p.F82L; 20:47736872-47736872 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.630G>A; p.M210I; 20:47690233-47690233 |
thyroid | carcinoma; medullary_carcinoma | Substitution - Missense |
c.1243G>T; p.E415*; 20:47677085-47677085 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.1192C>G; p.R398G; 20:47678677-47678677 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1077C>T; p.I359I; 20:47678792-47678792 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.528G>T; p.R176R; 20:47702558-47702558 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.416-4G>A; p.?; 20:47702674-47702674 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1662_1666delTGATG; p.D555fs*16; 20:47666399-47666403 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Deletion - Frameshift |
c.186G>T; p.Q62H; 20:47736932-47736932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.723C>A; p.N241K; 20:47690140-47690140 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.786G>T; p.M262I; 20:47684533-47684533 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.226G>A; p.A76T; 20:47736892-47736892 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1904T>C; p.I635T; 20:47665292-47665292 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1904T>C; p.I635T; 20:47665292-47665292 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.688G>A; p.D230N; 20:47690175-47690175 |
skin | malignant_melanoma | Substitution - Missense |
c.1804C>T; p.R602W; 20:47666261-47666261 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.768G>A; p.P256P; 20:47684551-47684551 |
thyroid | carcinoma | Substitution - coding silent |
c.531C>T; p.N177N; 20:47702555-47702555 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1453G>A; p.G485S; 20:47672321-47672321 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.531C>T; p.N177N; 20:47702555-47702555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.369G>A; p.E123E; 20:47736749-47736749 |
breast | carcinoma | Substitution - coding silent |
c.1920C>G; p.N640K; 20:47665276-47665276 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1159C>A; p.L387I; 20:47678710-47678710 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1449G>A; p.L483L; 20:47672325-47672325 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.291T>C; p.T97T; 20:47736827-47736827 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1096G>T; p.A366S; 20:47678773-47678773 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2431A>T; p.M811L; 20:47661836-47661836 |
thyroid | carcinoma | Substitution - Missense |
c.223G>T; p.G75W; 20:47736895-47736895 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1676C>A; p.P559H; 20:47666389-47666389 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1362G>T; p.A454A; 20:47676512-47676512 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.346C>T; p.P116S; 20:47736772-47736772 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1956G>A; p.L652L; 20:47665240-47665240 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.532G>T; p.G178W; 20:47702554-47702554 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.101G>A; p.R34K; 20:47757263-47757263 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.466G>A; p.G156S; 20:47702620-47702620 |
pancreas | carcinoma | Substitution - Missense |
c.568-3delC; p.?; 20:47690298-47690298 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1105A>G; p.I369V; 20:47678764-47678764 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1806G>T; p.R602R; 20:47665953-47665953 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1566_1567delCT; p.F523fs*32; 20:47672207-47672208 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.665A>C; p.H222P; 20:47690198-47690198 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.359C>A; p.A120E; 20:47736759-47736759 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1357A>G; p.T453A; 20:47676517-47676517 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2474G>A; p.R825Q; 20:47661793-47661793 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>A; p.R168H; 20:47702583-47702583 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.490C>T; p.L164F; 20:47702596-47702596 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.472A>T; p.K158*; 20:47702614-47702614 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.228G>A; p.A76A; 20:47736890-47736890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2172C>A; p.G724G; 20:47663508-47663508 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1773C>T; p.Y591Y; 20:47666292-47666292 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228G>A; p.A76A; 20:47736890-47736890 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1805+4A>G; p.?; 20:47666256-47666256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1773C>T; p.Y591Y; 20:47666292-47666292 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.807G>T; p.K269N; 20:47684512-47684512 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.382G>T; p.A128S; 20:47736736-47736736 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.31C>T; p.L11L; 20:47757333-47757333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1163A>G; p.K388R; 20:47678706-47678706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.757G>A; p.A253T; 20:47684562-47684562 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.205C>T; p.R69C; 20:47736913-47736913 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.409C>T; p.R137W; 20:47736709-47736709 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.278C>T; p.S93F; 20:47736840-47736840 |
skin | malignant_melanoma | Substitution - Missense |
c.1972G>C; p.E658Q; 20:47665224-47665224 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1591T>C; p.Y531H; 20:47666474-47666474 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.369G>T; p.E123D; 20:47736749-47736749 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.116G>A; p.R39H; 20:47757248-47757248 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.116G>A; p.R39H; 20:47757248-47757248 |
breast | carcinoma | Substitution - Missense |
c.1712C>A; p.P571H; 20:47666353-47666353 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.447C>T; p.N149N; 20:47702639-47702639 |
prostate | carcinoma | Substitution - coding silent |
c.489C>T; p.L163L; 20:47702597-47702597 |
skin | malignant_melanoma | Substitution - coding silent |
c.1477G>A; p.V493M; 20:47672297-47672297 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1465delC; p.L489fs*63; 20:47672309-47672309 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1175C>T; p.T392M; 20:47678694-47678694 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1720C>A; p.Q574K; 20:47666345-47666345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.582C>T; p.D194D; 20:47690281-47690281 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.231C>T; p.H77H; 20:47736887-47736887 |
skin | malignant_melanoma | Substitution - coding silent |
c.411G>T; p.R137R; 20:47736707-47736707 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2157G>A; p.T719T; 20:47663523-47663523 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2554G>A; p.E852K; 20:47659427-47659427 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1171G>C; p.D391H; 20:47678698-47678698 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.R394Q; 20:47678688-47678688 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.R394Q; 20:47678688-47678688 |
breast | carcinoma | Substitution - Missense |
c.50C>T; p.S17F; 20:47757314-47757314 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1768G>A; p.D590N; 20:47666297-47666297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1768G>A; p.D590N; 20:47666297-47666297 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.2495-1G>A; p.?; 20:47659731-47659731 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1718A>G; p.D573G; 20:47666347-47666347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1718A>G; p.D573G; 20:47666347-47666347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1141A>G; p.M381V; 20:47678728-47678728 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1504G>A; p.E502K; 20:47672270-47672270 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1718A>G; p.D573G; 20:47666347-47666347 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1718A>G; p.D573G; 20:47666347-47666347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1504G>A; p.E502K; 20:47672270-47672270 |
skin | malignant_melanoma | Substitution - Missense |
c.2283G>T; p.R761S; 20:47663157-47663157 |
liver | carcinoma | Substitution - Missense |
c.767C>T; p.P256L; 20:47684552-47684552 |
prostate | carcinoma | Substitution - Missense |