GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:000854410 | Esophagus | ESCC | epidermis development | 193/8552 | 324/18723 | 2.87e-07 | 4.19e-06 | 193 |
GO:004206027 | Esophagus | ESCC | wound healing | 243/8552 | 422/18723 | 4.62e-07 | 6.25e-06 | 243 |
GO:000991310 | Esophagus | ESCC | epidermal cell differentiation | 122/8552 | 202/18723 | 1.69e-05 | 1.51e-04 | 122 |
GO:00302167 | Esophagus | ESCC | keratinocyte differentiation | 86/8552 | 139/18723 | 8.53e-05 | 6.19e-04 | 86 |
GO:00451035 | Esophagus | ESCC | intermediate filament-based process | 32/8552 | 52/18723 | 1.55e-02 | 4.97e-02 | 32 |
GO:004206020 | Oral cavity | OSCC | wound healing | 237/7305 | 422/18723 | 4.51e-13 | 2.18e-11 | 237 |
GO:00435887 | Oral cavity | OSCC | skin development | 143/7305 | 263/18723 | 2.77e-07 | 4.27e-06 | 143 |
GO:00085449 | Oral cavity | OSCC | epidermis development | 171/7305 | 324/18723 | 2.89e-07 | 4.43e-06 | 171 |
GO:00302166 | Oral cavity | OSCC | keratinocyte differentiation | 81/7305 | 139/18723 | 3.16e-06 | 3.81e-05 | 81 |
GO:00099139 | Oral cavity | OSCC | epidermal cell differentiation | 109/7305 | 202/18723 | 1.08e-05 | 1.14e-04 | 109 |
GO:00451044 | Oral cavity | OSCC | intermediate filament cytoskeleton organization | 31/7305 | 51/18723 | 1.34e-03 | 6.62e-03 | 31 |
GO:00451034 | Oral cavity | OSCC | intermediate filament-based process | 31/7305 | 52/18723 | 2.08e-03 | 9.59e-03 | 31 |
GO:000854416 | Oral cavity | LP | epidermis development | 112/4623 | 324/18723 | 3.81e-05 | 5.61e-04 | 112 |
GO:004358816 | Oral cavity | LP | skin development | 93/4623 | 263/18723 | 6.47e-05 | 8.70e-04 | 93 |
GO:0042060110 | Oral cavity | LP | wound healing | 139/4623 | 422/18723 | 7.10e-05 | 9.48e-04 | 139 |
GO:003021613 | Oral cavity | LP | keratinocyte differentiation | 51/4623 | 139/18723 | 1.05e-03 | 8.84e-03 | 51 |
GO:000991315 | Oral cavity | LP | epidermal cell differentiation | 69/4623 | 202/18723 | 1.53e-03 | 1.19e-02 | 69 |
GO:000854417 | Skin | AK | epidermis development | 79/1910 | 324/18723 | 1.04e-13 | 3.25e-11 | 79 |
GO:00435889 | Skin | AK | skin development | 67/1910 | 263/18723 | 9.02e-13 | 2.14e-10 | 67 |
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 |
EVPL | SNV | Missense_Mutation | | c.3258G>C | p.Glu1086Asp | p.E1086D | | protein_coding | deleterious(0.01) | possibly_damaging(0.872) | TCGA-A1-A0SO-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | | SD |
EVPL | SNV | Missense_Mutation | novel | c.396N>T | p.Glu132Asp | p.E132D | | protein_coding | tolerated(0.2) | benign(0.104) | TCGA-A2-A0EX-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
EVPL | SNV | Missense_Mutation | | c.5482N>G | p.Pro1828Ala | p.P1828A | | protein_coding | tolerated(0.31) | benign(0.018) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
EVPL | SNV | Missense_Mutation | rs368923796 | c.3658N>A | p.Glu1220Lys | p.E1220K | | protein_coding | deleterious(0) | possibly_damaging(0.9) | TCGA-A8-A08X-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | PD |
EVPL | SNV | Missense_Mutation | | c.3991N>C | p.Glu1331Gln | p.E1331Q | | protein_coding | deleterious(0.03) | probably_damaging(0.99) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EVPL | SNV | Missense_Mutation | | c.2187N>C | p.Gln729His | p.Q729H | | protein_coding | deleterious(0.02) | benign(0.044) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
EVPL | SNV | Missense_Mutation | novel | c.348N>C | p.Glu116Asp | p.E116D | | protein_coding | deleterious(0.04) | benign(0.188) | TCGA-AC-A5XS-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | femara | SD |
EVPL | SNV | Missense_Mutation | rs774293924 | c.4420N>T | p.Arg1474Trp | p.R1474W | | protein_coding | deleterious(0.02) | probably_damaging(0.997) | TCGA-AN-A0FZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EVPL | SNV | Missense_Mutation | | c.5101N>C | p.Glu1701Gln | p.E1701Q | | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AN-A0XW-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
EVPL | SNV | Missense_Mutation | novel | c.1423N>T | p.Val475Leu | p.V475L | | protein_coding | tolerated(0.68) | benign(0.024) | TCGA-AQ-A04J-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |