GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000679021 | Liver | HCC | sulfur compound metabolic process | 212/7958 | 339/18723 | 5.60e-14 | 3.39e-12 | 212 |
GO:000599621 | Liver | HCC | monosaccharide metabolic process | 167/7958 | 257/18723 | 2.31e-13 | 1.25e-11 | 167 |
GO:001931821 | Liver | HCC | hexose metabolic process | 155/7958 | 237/18723 | 7.63e-13 | 3.90e-11 | 155 |
GO:004428221 | Liver | HCC | small molecule catabolic process | 225/7958 | 376/18723 | 6.50e-12 | 2.80e-10 | 225 |
GO:000600621 | Liver | HCC | glucose metabolic process | 128/7958 | 196/18723 | 8.60e-11 | 3.06e-09 | 128 |
GO:000606621 | Liver | HCC | alcohol metabolic process | 208/7958 | 353/18723 | 2.80e-10 | 9.50e-09 | 208 |
GO:001605222 | Liver | HCC | carbohydrate catabolic process | 99/7958 | 154/18723 | 3.79e-08 | 8.30e-07 | 99 |
GO:0006767 | Liver | HCC | water-soluble vitamin metabolic process | 39/7958 | 59/18723 | 2.14e-04 | 1.63e-03 | 39 |
GO:00725271 | Liver | HCC | pyrimidine-containing compound metabolic process | 49/7958 | 82/18723 | 1.20e-03 | 6.68e-03 | 49 |
GO:0006766 | Liver | HCC | vitamin metabolic process | 57/7958 | 106/18723 | 1.25e-02 | 4.53e-02 | 57 |
GO:003430812 | Liver | HCC | primary alcohol metabolic process | 55/7958 | 102/18723 | 1.30e-02 | 4.67e-02 | 55 |
GO:001931814 | Thyroid | ATC | hexose metabolic process | 111/6293 | 237/18723 | 1.51e-05 | 1.41e-04 | 111 |
GO:000599615 | Thyroid | ATC | monosaccharide metabolic process | 118/6293 | 257/18723 | 2.56e-05 | 2.20e-04 | 118 |
GO:000600616 | Thyroid | ATC | glucose metabolic process | 93/6293 | 196/18723 | 3.85e-05 | 3.14e-04 | 93 |
GO:001605224 | Thyroid | ATC | carbohydrate catabolic process | 71/6293 | 154/18723 | 8.33e-04 | 4.57e-03 | 71 |
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 |
TKTL1 | SNV | Missense_Mutation | rs781944208 | c.186C>A | p.Phe62Leu | p.F62L | P51854 | protein_coding | deleterious(0.04) | probably_damaging(0.999) | TCGA-AX-A05W-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TKTL1 | SNV | Missense_Mutation | rs782095901 | c.5N>T | p.Ala2Val | p.A2V | P51854 | protein_coding | deleterious_low_confidence(0.03) | benign(0.029) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TKTL1 | SNV | Missense_Mutation | rs782491397 | c.1510N>T | p.Arg504Cys | p.R504C | P51854 | protein_coding | tolerated(0.07) | possibly_damaging(0.458) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
TKTL1 | SNV | Missense_Mutation | rs146609649 | c.1648N>A | p.Val550Ile | p.V550I | P51854 | protein_coding | tolerated(0.14) | benign(0.079) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
TKTL1 | SNV | Missense_Mutation | novel | c.914N>T | p.Ala305Val | p.A305V | P51854 | protein_coding | tolerated(0.12) | benign(0.103) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TKTL1 | SNV | Missense_Mutation | novel | c.1573N>A | p.Ala525Thr | p.A525T | P51854 | protein_coding | tolerated(0.2) | benign(0.219) | TCGA-B5-A1MW-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | PD |
TKTL1 | SNV | Missense_Mutation | novel | c.85A>G | p.Ser29Gly | p.S29G | P51854 | protein_coding | deleterious(0.03) | benign(0.156) | TCGA-B5-A3FC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TKTL1 | SNV | Missense_Mutation | | c.485N>A | p.Gly162Asp | p.G162D | P51854 | protein_coding | tolerated(0.32) | benign(0.03) | TCGA-BS-A0TA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
TKTL1 | SNV | Missense_Mutation | | c.1513N>A | p.Val505Ile | p.V505I | P51854 | protein_coding | tolerated(0.16) | benign(0.209) | TCGA-BS-A0TA-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | taxol | PD |
TKTL1 | SNV | Missense_Mutation | novel | c.913N>A | p.Ala305Thr | p.A305T | P51854 | protein_coding | tolerated(0.1) | benign(0.229) | TCGA-D1-A15X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |