Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
ZNF730 | SNV | Missense_Mutation | novel | c.995N>T | p.Arg332Ile | p.R332I | Q6ZMV8 | protein_coding | tolerated(0.54) | benign(0.006) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF730 | SNV | Missense_Mutation | | c.331N>G | p.Leu111Val | p.L111V | Q6ZMV8 | protein_coding | deleterious(0.04) | benign(0.333) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF730 | SNV | Missense_Mutation | | c.1182N>C | p.Lys394Asn | p.K394N | Q6ZMV8 | protein_coding | deleterious(0.02) | possibly_damaging(0.637) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF730 | SNV | Missense_Mutation | rs749373303 | c.506N>T | p.Ser169Leu | p.S169L | Q6ZMV8 | protein_coding | deleterious(0.01) | benign(0.29) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
ZNF730 | SNV | Missense_Mutation | rs774218595 | c.1331N>T | p.Arg444Ile | p.R444I | Q6ZMV8 | protein_coding | tolerated(0.54) | benign(0.006) | TCGA-EO-A22X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unspecific | Carboplatin | Complete Response |
ZNF730 | SNV | Missense_Mutation | rs755315083 | c.1147C>T | p.Leu383Phe | p.L383F | Q6ZMV8 | protein_coding | deleterious(0.03) | probably_damaging(0.998) | TCGA-EO-A3AY-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
ZNF730 | SNV | Missense_Mutation | rs559998599 | c.553N>A | p.Leu185Ile | p.L185I | Q6ZMV8 | protein_coding | tolerated(0.05) | benign(0.074) | TCGA-EO-A3B0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
ZNF730 | SNV | Missense_Mutation | rs749373303 | c.506N>T | p.Ser169Leu | p.S169L | Q6ZMV8 | protein_coding | deleterious(0.01) | benign(0.29) | TCGA-EY-A1G8-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
ZNF730 | SNV | Missense_Mutation | rs749373303 | c.506N>T | p.Ser169Leu | p.S169L | Q6ZMV8 | protein_coding | deleterious(0.01) | benign(0.29) | TCGA-EY-A1GI-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
ZNF730 | SNV | Missense_Mutation | novel | c.743N>T | p.Arg248Ile | p.R248I | Q6ZMV8 | protein_coding | tolerated(0.66) | benign(0.012) | TCGA-QS-A5YQ-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | CR |