GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005087016 | Skin | AK | positive regulation of T cell activation | 39/1910 | 216/18723 | 2.94e-04 | 3.06e-03 | 39 |
GO:00100017 | Skin | AK | glial cell differentiation | 40/1910 | 225/18723 | 3.45e-04 | 3.47e-03 | 40 |
GO:004682418 | Skin | AK | positive regulation of nucleocytoplasmic transport | 16/1910 | 62/18723 | 3.70e-04 | 3.61e-03 | 16 |
GO:000268317 | Skin | AK | negative regulation of immune system process | 67/1910 | 434/18723 | 3.74e-04 | 3.63e-03 | 67 |
GO:00720739 | Skin | AK | kidney epithelium development | 27/1910 | 136/18723 | 5.36e-04 | 4.85e-03 | 27 |
GO:000165510 | Skin | AK | urogenital system development | 54/1910 | 338/18723 | 5.86e-04 | 5.20e-03 | 54 |
GO:190303917 | Skin | AK | positive regulation of leukocyte cell-cell adhesion | 41/1910 | 239/18723 | 6.22e-04 | 5.45e-03 | 41 |
GO:19031318 | Skin | AK | mononuclear cell differentiation | 65/1910 | 426/18723 | 6.24e-04 | 5.45e-03 | 65 |
GO:00215372 | Skin | AK | telencephalon development | 42/1910 | 248/18723 | 7.04e-04 | 6.01e-03 | 42 |
GO:00456195 | Skin | AK | regulation of lymphocyte differentiation | 32/1910 | 174/18723 | 7.11e-04 | 6.04e-03 | 32 |
GO:00456676 | Skin | AK | regulation of osteoblast differentiation | 26/1910 | 132/18723 | 7.61e-04 | 6.39e-03 | 26 |
GO:00611386 | Skin | AK | morphogenesis of a branching epithelium | 33/1910 | 182/18723 | 7.66e-04 | 6.39e-03 | 33 |
GO:00604436 | Skin | AK | mammary gland morphogenesis | 12/1910 | 43/18723 | 9.25e-04 | 7.53e-03 | 12 |
GO:003032410 | Skin | AK | lung development | 32/1910 | 177/18723 | 9.60e-04 | 7.68e-03 | 32 |
GO:00330772 | Skin | AK | T cell differentiation in thymus | 17/1910 | 75/18723 | 1.22e-03 | 9.32e-03 | 17 |
GO:00300985 | Skin | AK | lymphocyte differentiation | 57/1910 | 374/18723 | 1.34e-03 | 1.00e-02 | 57 |
GO:003032310 | Skin | AK | respiratory tube development | 32/1910 | 181/18723 | 1.41e-03 | 1.04e-02 | 32 |
GO:0048546 | Skin | AK | digestive tract morphogenesis | 12/1910 | 45/18723 | 1.43e-03 | 1.05e-02 | 12 |
GO:002191510 | Skin | AK | neural tube development | 28/1910 | 152/18723 | 1.44e-03 | 1.06e-02 | 28 |
GO:00455804 | Skin | AK | regulation of T cell differentiation | 27/1910 | 146/18723 | 1.64e-03 | 1.16e-02 | 27 |
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 |
GLI3 | SNV | Missense_Mutation | | c.1620C>A | p.His540Gln | p.H540Q | P10071 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI3 | SNV | Missense_Mutation | novel | c.3213N>C | p.Glu1071Asp | p.E1071D | P10071 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GLI3 | SNV | Missense_Mutation | | c.2308N>C | p.Ala770Pro | p.A770P | P10071 | protein_coding | tolerated(0.08) | benign(0.007) | TCGA-B6-A0IM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI3 | SNV | Missense_Mutation | | c.3437T>G | p.Leu1146Arg | p.L1146R | P10071 | protein_coding | deleterious(0.04) | benign(0.014) | TCGA-BH-A203-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
GLI3 | SNV | Missense_Mutation | novel | c.1763C>T | p.Ser588Leu | p.S588L | P10071 | protein_coding | deleterious(0) | probably_damaging(0.995) | TCGA-BH-A2L8-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | CR |
GLI3 | SNV | Missense_Mutation | | c.2422N>C | p.Ile808Leu | p.I808L | P10071 | protein_coding | tolerated(0.55) | benign(0.065) | TCGA-D8-A1XQ-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
GLI3 | SNV | Missense_Mutation | | c.1336N>T | p.Pro446Ser | p.P446S | P10071 | protein_coding | deleterious(0.04) | benign(0.336) | TCGA-E2-A14P-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Targeted Molecular therapy | trastuzumab | SD |
GLI3 | SNV | Missense_Mutation | | c.1154N>T | p.Pro385Leu | p.P385L | P10071 | protein_coding | deleterious(0.02) | benign(0.099) | TCGA-GM-A2DO-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | CR |
GLI3 | insertion | Frame_Shift_Ins | novel | c.4513_4514insTATGTATTTTAGCAATCTCATCTCACCTAACTGAGATGTGTTTC | p.Asp1505ValfsTer21 | p.D1505Vfs*21 | P10071 | protein_coding | | | TCGA-A2-A0EM-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
GLI3 | insertion | Nonsense_Mutation | novel | c.767_768insTGTTTTAACAGGTTTTACATTTTTGCCTTAAATGATTGTTTGC | p.Ser257ValfsTer10 | p.S257Vfs*10 | P10071 | protein_coding | | | TCGA-A7-A0D9-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | SD |