GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00000412 | Breast | Precancer | transition metal ion transport | 13/1080 | 105/18723 | 7.35e-03 | 4.89e-02 | 13 |
GO:0070839 | Breast | IDC | metal ion export | 10/1434 | 54/18723 | 7.22e-03 | 4.96e-02 | 10 |
GO:00708391 | Breast | DCIS | metal ion export | 10/1390 | 54/18723 | 5.83e-03 | 4.18e-02 | 10 |
GO:00018908 | Cervix | CC | placenta development | 40/2311 | 144/18723 | 4.59e-07 | 1.77e-05 | 40 |
GO:00614588 | Cervix | CC | reproductive system development | 87/2311 | 427/18723 | 1.37e-06 | 4.55e-05 | 87 |
GO:00486088 | Cervix | CC | reproductive structure development | 86/2311 | 424/18723 | 1.90e-06 | 5.97e-05 | 86 |
GO:00075654 | Cervix | CC | female pregnancy | 43/2311 | 193/18723 | 7.62e-05 | 1.04e-03 | 43 |
GO:00447064 | Cervix | CC | multi-multicellular organism process | 45/2311 | 220/18723 | 4.14e-04 | 4.21e-03 | 45 |
GO:00601353 | Cervix | CC | maternal process involved in female pregnancy | 15/2311 | 62/18723 | 7.30e-03 | 3.92e-02 | 15 |
GO:0051052 | Colorectum | AD | regulation of DNA metabolic process | 116/3918 | 359/18723 | 2.47e-07 | 1.00e-05 | 116 |
GO:0051054 | Colorectum | AD | positive regulation of DNA metabolic process | 73/3918 | 201/18723 | 3.27e-07 | 1.29e-05 | 73 |
GO:0070997 | Colorectum | AD | neuron death | 114/3918 | 361/18723 | 1.13e-06 | 3.72e-05 | 114 |
GO:1901214 | Colorectum | AD | regulation of neuron death | 99/3918 | 319/18723 | 1.26e-05 | 2.76e-04 | 99 |
GO:0010975 | Colorectum | AD | regulation of neuron projection development | 129/3918 | 445/18723 | 2.88e-05 | 5.37e-04 | 129 |
GO:0001890 | Colorectum | AD | placenta development | 51/3918 | 144/18723 | 3.99e-05 | 7.16e-04 | 51 |
GO:0006325 | Colorectum | AD | chromatin organization | 119/3918 | 409/18723 | 4.85e-05 | 8.33e-04 | 119 |
GO:0051402 | Colorectum | AD | neuron apoptotic process | 77/3918 | 246/18723 | 8.07e-05 | 1.28e-03 | 77 |
GO:0031346 | Colorectum | AD | positive regulation of cell projection organization | 104/3918 | 353/18723 | 8.26e-05 | 1.30e-03 | 104 |
GO:1901215 | Colorectum | AD | negative regulation of neuron death | 67/3918 | 208/18723 | 8.81e-05 | 1.35e-03 | 67 |
GO:0043523 | Colorectum | AD | regulation of neuron apoptotic process | 64/3918 | 212/18723 | 8.95e-04 | 8.63e-03 | 64 |
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 |
TOX | SNV | Missense_Mutation | rs764849044 | c.1325N>G | p.Gln442Arg | p.Q442R | O94900 | protein_coding | tolerated(0.14) | probably_damaging(0.932) | TCGA-BH-A0RX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | fluorouracil | SD |
TOX | SNV | Missense_Mutation | | c.820G>T | p.Asp274Tyr | p.D274Y | O94900 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-E2-A10C-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
TOX | insertion | Nonsense_Mutation | novel | c.17_18insAGGA | p.Tyr6Ter | p.Y6* | O94900 | protein_coding | | | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TOX | insertion | Frame_Shift_Ins | novel | c.15_16insGCTCGGATTCTTTCCTTCCTGCTGTTCGCGGC | p.Tyr6AlafsTer48 | p.Y6Afs*48 | O94900 | protein_coding | | | TCGA-A8-A06Q-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
TOX | insertion | Frame_Shift_Ins | novel | c.1082_1083insAAATAATATT | p.Pro362AsnfsTer33 | p.P362Nfs*33 | O94900 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TOX | insertion | In_Frame_Ins | novel | c.1081_1082insTGTCATTTGCTAAATTGAAAGAAAGTAAAATAATGT | p.Gly361delinsValSerPheAlaLysLeuLysGluSerLysIleMetTrp | p.G361delinsVSFAKLKESKIMW | O94900 | protein_coding | | | TCGA-B6-A0IA-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
TOX | SNV | Missense_Mutation | rs751683918 | c.140N>T | p.Pro47Leu | p.P47L | O94900 | protein_coding | tolerated(0.08) | probably_damaging(0.995) | TCGA-EK-A2GZ-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unknown | Unknown | SD |
TOX | SNV | Missense_Mutation | | c.395N>A | p.Ser132Tyr | p.S132Y | O94900 | protein_coding | deleterious(0) | benign(0.103) | TCGA-FU-A40J-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Chemotherapy | carboplatin | CR |
TOX | SNV | Missense_Mutation | | c.415N>T | p.Pro139Ser | p.P139S | O94900 | protein_coding | tolerated(0.22) | benign(0) | TCGA-5M-AAT6-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
TOX | SNV | Missense_Mutation | rs200969018 | c.1061C>T | p.Ser354Leu | p.S354L | O94900 | protein_coding | deleterious(0.01) | benign(0.017) | TCGA-A6-6141-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Chemotherapy | 5-fu | SD |