GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00720067 | Thyroid | PTC | nephron development | 61/5968 | 142/18723 | 3.49e-03 | 1.69e-02 | 61 |
GO:002261219 | Thyroid | PTC | gland morphogenesis | 52/5968 | 118/18723 | 3.56e-03 | 1.72e-02 | 52 |
GO:00900907 | Thyroid | PTC | negative regulation of canonical Wnt signaling pathway | 59/5968 | 137/18723 | 3.76e-03 | 1.80e-02 | 59 |
GO:002198713 | Thyroid | PTC | cerebral cortex development | 50/5968 | 114/18723 | 4.71e-03 | 2.21e-02 | 50 |
GO:00218011 | Thyroid | PTC | cerebral cortex radial glia guided migration | 14/5968 | 24/18723 | 6.65e-03 | 2.89e-02 | 14 |
GO:00220301 | Thyroid | PTC | telencephalon glial cell migration | 14/5968 | 24/18723 | 6.65e-03 | 2.89e-02 | 14 |
GO:007216313 | Thyroid | PTC | mesonephric epithelium development | 41/5968 | 92/18723 | 7.12e-03 | 3.06e-02 | 41 |
GO:007216413 | Thyroid | PTC | mesonephric tubule development | 41/5968 | 92/18723 | 7.12e-03 | 3.06e-02 | 41 |
GO:000716219 | Thyroid | PTC | negative regulation of cell adhesion | 117/5968 | 303/18723 | 7.28e-03 | 3.12e-02 | 117 |
GO:00611387 | Thyroid | PTC | morphogenesis of a branching epithelium | 74/5968 | 182/18723 | 7.45e-03 | 3.18e-02 | 74 |
GO:00456697 | Thyroid | PTC | positive regulation of osteoblast differentiation | 32/5968 | 69/18723 | 8.16e-03 | 3.44e-02 | 32 |
GO:00309007 | Thyroid | PTC | forebrain development | 143/5968 | 379/18723 | 8.47e-03 | 3.56e-02 | 143 |
GO:000182313 | Thyroid | PTC | mesonephros development | 42/5968 | 96/18723 | 9.53e-03 | 3.91e-02 | 42 |
GO:0045879 | Thyroid | PTC | negative regulation of smoothened signaling pathway | 17/5968 | 32/18723 | 1.02e-02 | 4.11e-02 | 17 |
GO:000165713 | Thyroid | PTC | ureteric bud development | 40/5968 | 91/18723 | 1.02e-02 | 4.14e-02 | 40 |
GO:00610056 | Thyroid | PTC | cell differentiation involved in kidney development | 27/5968 | 57/18723 | 1.04e-02 | 4.18e-02 | 27 |
GO:00608402 | Thyroid | PTC | artery development | 43/5968 | 100/18723 | 1.25e-02 | 4.88e-02 | 43 |
GO:007259429 | Thyroid | ATC | establishment of protein localization to organelle | 247/6293 | 422/18723 | 2.88e-26 | 1.40e-23 | 247 |
GO:003238632 | Thyroid | ATC | regulation of intracellular transport | 203/6293 | 337/18723 | 6.16e-24 | 1.85e-21 | 203 |
GO:003315726 | Thyroid | ATC | regulation of intracellular protein transport | 147/6293 | 229/18723 | 2.01e-21 | 4.38e-19 | 147 |
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 |