GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:004854510 | Cervix | CC | response to steroid hormone | 74/2311 | 339/18723 | 5.71e-07 | 2.09e-05 | 74 |
GO:00305229 | Cervix | CC | intracellular receptor signaling pathway | 60/2311 | 265/18723 | 1.89e-06 | 5.97e-05 | 60 |
GO:190165410 | Cervix | CC | response to ketone | 45/2311 | 194/18723 | 1.83e-05 | 3.44e-04 | 45 |
GO:00165705 | Cervix | CC | histone modification | 84/2311 | 463/18723 | 1.70e-04 | 2.01e-03 | 84 |
GO:00325704 | Cervix | CC | response to progesterone | 13/2311 | 37/18723 | 2.99e-04 | 3.21e-03 | 13 |
GO:00713839 | Cervix | CC | cellular response to steroid hormone stimulus | 40/2311 | 204/18723 | 1.93e-03 | 1.42e-02 | 40 |
GO:00305188 | Cervix | CC | intracellular steroid hormone receptor signaling pathway | 25/2311 | 116/18723 | 3.59e-03 | 2.30e-02 | 25 |
GO:001657017 | Thyroid | ATC | histone modification | 243/6293 | 463/18723 | 2.23e-17 | 2.27e-15 | 243 |
GO:0048545210 | Thyroid | ATC | response to steroid hormone | 168/6293 | 339/18723 | 7.21e-10 | 1.88e-08 | 168 |
GO:190165427 | Thyroid | ATC | response to ketone | 105/6293 | 194/18723 | 2.96e-09 | 6.96e-08 | 105 |
GO:0030522112 | Thyroid | ATC | intracellular receptor signaling pathway | 134/6293 | 265/18723 | 7.58e-09 | 1.63e-07 | 134 |
GO:007138328 | Thyroid | ATC | cellular response to steroid hormone stimulus | 103/6293 | 204/18723 | 4.32e-07 | 6.30e-06 | 103 |
GO:003051826 | Thyroid | ATC | intracellular steroid hormone receptor signaling pathway | 65/6293 | 116/18723 | 5.58e-07 | 7.93e-06 | 65 |
GO:003560114 | Thyroid | ATC | protein deacylation | 61/6293 | 112/18723 | 4.37e-06 | 4.79e-05 | 61 |
GO:000647614 | Thyroid | ATC | protein deacetylation | 56/6293 | 101/18723 | 5.15e-06 | 5.57e-05 | 56 |
GO:0043401111 | Thyroid | ATC | steroid hormone mediated signaling pathway | 71/6293 | 136/18723 | 5.72e-06 | 6.07e-05 | 71 |
GO:001657512 | Thyroid | ATC | histone deacetylation | 47/6293 | 82/18723 | 8.75e-06 | 8.81e-05 | 47 |
GO:009873213 | Thyroid | ATC | macromolecule deacylation | 61/6293 | 116/18723 | 1.89e-05 | 1.72e-04 | 61 |
GO:003257018 | Thyroid | ATC | response to progesterone | 25/6293 | 37/18723 | 2.50e-05 | 2.16e-04 | 25 |
GO:190165521 | Thyroid | ATC | cellular response to ketone | 52/6293 | 96/18723 | 2.65e-05 | 2.27e-04 | 52 |
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 |
TRERF1 | SNV | Missense_Mutation | | c.2435N>T | p.Pro812Leu | p.P812L | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AP-A056-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | rs558792404 | c.339N>T | p.Gln113His | p.Q113H | | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.983) | TCGA-AP-A05O-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Chemotherapy | carboplatin | PD |
TRERF1 | SNV | Missense_Mutation | rs751442173 | c.869N>T | p.Thr290Met | p.T290M | | protein_coding | tolerated_low_confidence(0.09) | benign(0.019) | TCGA-AP-A0LS-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | novel | c.2633A>T | p.Asp878Val | p.D878V | | protein_coding | deleterious(0) | probably_damaging(0.973) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | novel | c.463C>A | p.Leu155Met | p.L155M | | protein_coding | deleterious_low_confidence(0) | probably_damaging(0.99) | TCGA-AP-A1DV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | novel | c.2618T>G | p.Phe873Cys | p.F873C | | protein_coding | deleterious(0.02) | probably_damaging(0.921) | TCGA-AP-A1E0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | SD |
TRERF1 | SNV | Missense_Mutation | | c.811N>A | p.Pro271Thr | p.P271T | | protein_coding | tolerated_low_confidence(0.43) | benign(0.01) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | | c.1796N>A | p.Ser599Tyr | p.S599Y | | protein_coding | tolerated(0.05) | benign(0.123) | TCGA-AX-A0J0-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | rs746577995 | c.2866C>T | p.Arg956Trp | p.R956W | | protein_coding | deleterious(0) | probably_damaging(0.965) | TCGA-AX-A0J1-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
TRERF1 | SNV | Missense_Mutation | rs773652505 | c.3482C>T | p.Ala1161Val | p.A1161V | | protein_coding | tolerated_low_confidence(0.2) | benign(0.02) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |