GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
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:0001890 | Colorectum | AD | placenta development | 51/3918 | 144/18723 | 3.99e-05 | 7.16e-04 | 51 |
GO:0061458 | Colorectum | AD | reproductive system development | 116/3918 | 427/18723 | 1.11e-03 | 1.01e-02 | 116 |
GO:0048608 | Colorectum | AD | reproductive structure development | 114/3918 | 424/18723 | 1.78e-03 | 1.47e-02 | 114 |
GO:00018902 | Colorectum | MSS | placenta development | 51/3467 | 144/18723 | 1.10e-06 | 3.77e-05 | 51 |
GO:00614582 | Colorectum | MSS | reproductive system development | 115/3467 | 427/18723 | 9.86e-06 | 2.39e-04 | 115 |
GO:00486082 | Colorectum | MSS | reproductive structure development | 113/3467 | 424/18723 | 1.94e-05 | 4.18e-04 | 113 |
GO:0001893 | Colorectum | MSS | maternal placenta development | 13/3467 | 35/18723 | 7.38e-03 | 4.68e-02 | 13 |
GO:00018903 | Colorectum | FAP | placenta development | 38/2622 | 144/18723 | 6.22e-05 | 1.21e-03 | 38 |
GO:00614583 | Colorectum | FAP | reproductive system development | 85/2622 | 427/18723 | 4.30e-04 | 5.13e-03 | 85 |
GO:00486083 | Colorectum | FAP | reproductive structure development | 84/2622 | 424/18723 | 5.40e-04 | 6.10e-03 | 84 |
GO:00614589 | Endometrium | AEH | reproductive system development | 88/2100 | 427/18723 | 9.50e-09 | 6.41e-07 | 88 |
GO:00486089 | Endometrium | AEH | reproductive structure development | 87/2100 | 424/18723 | 1.43e-08 | 9.12e-07 | 87 |
GO:00018909 | Endometrium | AEH | placenta development | 39/2100 | 144/18723 | 1.07e-07 | 5.20e-06 | 39 |
GO:00075655 | Endometrium | AEH | female pregnancy | 43/2100 | 193/18723 | 7.52e-06 | 1.80e-04 | 43 |
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 |
TOX2 | SNV | Missense_Mutation | | c.260N>G | p.Asp87Gly | p.D87G | Q96NM4 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-A8-A0A9-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
TOX2 | SNV | Missense_Mutation | | c.1373C>G | p.Ser458Cys | p.S458C | Q96NM4 | protein_coding | deleterious(0.02) | possibly_damaging(0.855) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
TOX2 | SNV | Missense_Mutation | | c.722N>T | p.Lys241Met | p.K241M | Q96NM4 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AR-A1AP-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
TOX2 | SNV | Missense_Mutation | novel | c.615N>A | p.Ser205Arg | p.S205R | Q96NM4 | protein_coding | deleterious(0) | probably_damaging(0.994) | TCGA-E2-A576-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | taxotere | SD |
TOX2 | insertion | In_Frame_Ins | novel | c.680_681insTATACACATATACACACATGCACACACACT | p.Asp227_Pro228insIleHisIleTyrThrHisAlaHisThrLeu | p.D227_P228insIHIYTHAHTL | Q96NM4 | protein_coding | | | TCGA-AR-A0TY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | PD |
TOX2 | insertion | Frame_Shift_Ins | novel | c.810_811insTATACACACATGCACACACACTCCAAACTTGGAAATAG | p.Ala271TyrfsTer50 | p.A271Yfs*50 | Q96NM4 | protein_coding | | | TCGA-B6-A0IE-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | PD |
TOX2 | insertion | Nonsense_Mutation | novel | c.695_696insTCTATTGGGCACTAACCAGTTTCACGTGTAATTTAGTAAT | p.Lys233LeufsTer10 | p.K233Lfs*10 | Q96NM4 | protein_coding | | | TCGA-BH-A0AY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | | SD |
TOX2 | SNV | Missense_Mutation | rs755716363 | c.362N>T | p.Ser121Phe | p.S121F | Q96NM4 | protein_coding | deleterious(0) | probably_damaging(0.996) | TCGA-IR-A3LA-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
TOX2 | SNV | Missense_Mutation | | c.774N>T | p.Arg258Ser | p.R258S | Q96NM4 | protein_coding | deleterious(0) | probably_damaging(0.974) | TCGA-IR-A3LK-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Chemotherapy | cisplatin | PD |
TOX2 | SNV | Missense_Mutation | novel | c.449N>T | p.Asp150Val | p.D150V | Q96NM4 | protein_coding | deleterious(0.04) | probably_damaging(0.925) | TCGA-MY-A5BE-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |