GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0001836111 | Thyroid | ATC | release of cytochrome c from mitochondria | 34/6293 | 59/18723 | 1.29e-04 | 9.10e-04 | 34 |
GO:005254834 | Thyroid | ATC | regulation of endopeptidase activity | 181/6293 | 432/18723 | 1.70e-04 | 1.16e-03 | 181 |
GO:009055919 | Thyroid | ATC | regulation of membrane permeability | 42/6293 | 78/18723 | 1.82e-04 | 1.23e-03 | 42 |
GO:190204316 | Thyroid | ATC | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors | 11/6293 | 13/18723 | 2.30e-04 | 1.49e-03 | 11 |
GO:005160712 | Thyroid | ATC | defense response to virus | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
GO:014054612 | Thyroid | ATC | defense response to symbiont | 115/6293 | 265/18723 | 5.31e-04 | 3.09e-03 | 115 |
GO:00435171 | Thyroid | ATC | positive regulation of DNA damage response, signal transduction by p53 class mediator | 11/6293 | 14/18723 | 7.46e-04 | 4.14e-03 | 11 |
GO:009020012 | Thyroid | ATC | positive regulation of release of cytochrome c from mitochondria | 18/6293 | 28/18723 | 8.70e-04 | 4.72e-03 | 18 |
GO:009019915 | Thyroid | ATC | regulation of release of cytochrome c from mitochondria | 27/6293 | 48/18723 | 1.04e-03 | 5.50e-03 | 27 |
GO:001095033 | Thyroid | ATC | positive regulation of endopeptidase activity | 79/6293 | 179/18723 | 2.09e-03 | 9.86e-03 | 79 |
GO:000610913 | Thyroid | ATC | regulation of carbohydrate metabolic process | 78/6293 | 178/18723 | 2.81e-03 | 1.28e-02 | 78 |
GO:004328031 | Thyroid | ATC | positive regulation of cysteine-type endopeptidase activity involved in apoptotic process | 58/6293 | 129/18723 | 4.70e-03 | 1.93e-02 | 58 |
GO:200105632 | Thyroid | ATC | positive regulation of cysteine-type endopeptidase activity | 64/6293 | 148/18723 | 8.98e-03 | 3.39e-02 | 64 |
GO:004333111 | Thyroid | ATC | response to dsRNA | 27/6293 | 55/18723 | 1.24e-02 | 4.38e-02 | 27 |
GO:00421493 | Thyroid | ATC | cellular response to glucose starvation | 24/6293 | 48/18723 | 1.37e-02 | 4.77e-02 | 24 |
GO:001090612 | Thyroid | ATC | regulation of glucose metabolic process | 52/6293 | 119/18723 | 1.37e-02 | 4.77e-02 | 52 |
GO:000691922 | Thyroid | ATC | activation of cysteine-type endopeptidase activity involved in apoptotic process | 36/6293 | 78/18723 | 1.43e-02 | 4.92e-02 | 36 |
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 |
MAIP1 | SNV | Missense_Mutation | | c.742N>T | p.Val248Phe | p.V248F | Q8WWC4 | protein_coding | tolerated(0.08) | benign(0.233) | TCGA-A8-A08S-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
MAIP1 | SNV | Missense_Mutation | | c.340N>A | p.Gly114Arg | p.G114R | Q8WWC4 | protein_coding | deleterious(0.03) | possibly_damaging(0.905) | TCGA-A8-A09Z-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | novel | c.608N>C | p.Phe203Ser | p.F203S | Q8WWC4 | protein_coding | deleterious(0) | benign(0.091) | TCGA-AC-A3QQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | novel | c.781N>A | p.Leu261Ile | p.L261I | Q8WWC4 | protein_coding | tolerated(0.07) | possibly_damaging(0.521) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | | c.363N>T | p.Trp121Cys | p.W121C | Q8WWC4 | protein_coding | deleterious(0) | probably_damaging(0.971) | TCGA-BH-A0HY-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | taxotere | CR |
MAIP1 | SNV | Missense_Mutation | | c.520G>C | p.Glu174Gln | p.E174Q | Q8WWC4 | protein_coding | deleterious(0) | probably_damaging(0.982) | TCGA-BH-A0W7-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | taxotere | CR |
MAIP1 | insertion | Frame_Shift_Ins | novel | c.607_608insCTCA | p.Phe203SerfsTer13 | p.F203Sfs*13 | Q8WWC4 | protein_coding | | | TCGA-A7-A26I-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
MAIP1 | insertion | Frame_Shift_Ins | novel | c.646_647insTGGC | p.Lys216MetfsTer8 | p.K216Mfs*8 | Q8WWC4 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | insertion | Frame_Shift_Ins | novel | c.647_648insGCCTAGATTTC | p.Gly217ProfsTer12 | p.G217Pfs*12 | Q8WWC4 | protein_coding | | | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MAIP1 | SNV | Missense_Mutation | novel | c.37N>T | p.His13Tyr | p.H13Y | Q8WWC4 | protein_coding | deleterious_low_confidence(0.02) | benign(0.006) | TCGA-AJ-A3EK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |