GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00064179 | Breast | Precancer | regulation of translation | 67/1080 | 468/18723 | 4.71e-12 | 7.64e-10 | 67 |
GO:00457279 | Breast | Precancer | positive regulation of translation | 32/1080 | 136/18723 | 5.89e-12 | 9.27e-10 | 32 |
GO:00342509 | Breast | Precancer | positive regulation of cellular amide metabolic process | 33/1080 | 162/18723 | 1.72e-10 | 1.77e-08 | 33 |
GO:00100389 | Breast | Precancer | response to metal ion | 47/1080 | 373/18723 | 3.88e-07 | 1.79e-05 | 47 |
GO:00075688 | Breast | Precancer | aging | 41/1080 | 339/18723 | 5.95e-06 | 1.71e-04 | 41 |
GO:00487329 | Breast | Precancer | gland development | 49/1080 | 436/18723 | 6.11e-06 | 1.73e-04 | 49 |
GO:00971919 | Breast | Precancer | extrinsic apoptotic signaling pathway | 30/1080 | 219/18723 | 9.42e-06 | 2.50e-04 | 30 |
GO:00436273 | Breast | Precancer | response to estrogen | 15/1080 | 75/18723 | 2.06e-05 | 4.83e-04 | 15 |
GO:00342849 | Breast | Precancer | response to monosaccharide | 29/1080 | 225/18723 | 4.19e-05 | 9.00e-04 | 29 |
GO:00106319 | Breast | Precancer | epithelial cell migration | 40/1080 | 357/18723 | 4.57e-05 | 9.71e-04 | 40 |
GO:00901329 | Breast | Precancer | epithelium migration | 40/1080 | 360/18723 | 5.51e-05 | 1.14e-03 | 40 |
GO:00097439 | Breast | Precancer | response to carbohydrate | 31/1080 | 253/18723 | 6.15e-05 | 1.25e-03 | 31 |
GO:00901309 | Breast | Precancer | tissue migration | 40/1080 | 365/18723 | 7.48e-05 | 1.47e-03 | 40 |
GO:00093148 | Breast | Precancer | response to radiation | 47/1080 | 456/18723 | 8.39e-05 | 1.62e-03 | 47 |
GO:00018898 | Breast | Precancer | liver development | 21/1080 | 147/18723 | 1.08e-04 | 1.96e-03 | 21 |
GO:00102125 | Breast | Precancer | response to ionizing radiation | 21/1080 | 148/18723 | 1.19e-04 | 2.13e-03 | 21 |
GO:0045104 | Breast | Precancer | intermediate filament cytoskeleton organization | 11/1080 | 51/18723 | 1.26e-04 | 2.22e-03 | 11 |
GO:00713568 | Breast | Precancer | cellular response to tumor necrosis factor | 28/1080 | 229/18723 | 1.42e-04 | 2.45e-03 | 28 |
GO:00610088 | Breast | Precancer | hepaticobiliary system development | 21/1080 | 150/18723 | 1.45e-04 | 2.49e-03 | 21 |
GO:0045103 | Breast | Precancer | intermediate filament-based process | 11/1080 | 52/18723 | 1.52e-04 | 2.60e-03 | 11 |
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 |
KRT1 | SNV | Missense_Mutation | novel | c.62C>T | p.Ser21Phe | p.S21F | P04264 | protein_coding | deleterious(0) | probably_damaging(0.96) | TCGA-5L-AAT1-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Hormone Therapy | letrozol | SD |
KRT1 | SNV | Missense_Mutation | novel | c.1807N>A | p.Gly603Ser | p.G603S | P04264 | protein_coding | tolerated_low_confidence(0.56) | benign(0.006) | TCGA-A2-A0CT-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | cytoxan | SD |
KRT1 | SNV | Missense_Mutation | rs771587972 | c.751N>T | p.Arg251Trp | p.R251W | P04264 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AN-A046-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KRT1 | SNV | Missense_Mutation | | c.1027N>T | p.Arg343Cys | p.R343C | P04264 | protein_coding | deleterious(0.01) | probably_damaging(0.995) | TCGA-AO-A03O-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Chemotherapy | doxorubicin | SD |
KRT1 | SNV | Missense_Mutation | | c.1307C>T | p.Ala436Val | p.A436V | P04264 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-B6-A0IC-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
KRT1 | deletion | Frame_Shift_Del | novel | c.402delN | p.Phe134LeufsTer43 | p.F134Lfs*43 | P04264 | protein_coding | | | TCGA-EW-A2FV-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | docetaxel | SD |
KRT1 | SNV | Missense_Mutation | | c.655N>A | p.Asp219Asn | p.D219N | P04264 | protein_coding | tolerated(0.38) | benign(0.066) | TCGA-C5-A2LZ-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Unknown | Unknown | PD |
KRT1 | SNV | Missense_Mutation | | c.811N>C | p.Glu271Gln | p.E271Q | P04264 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
KRT1 | SNV | Missense_Mutation | novel | c.1811C>T | p.Ser604Phe | p.S604F | P04264 | protein_coding | tolerated_low_confidence(0.09) | possibly_damaging(0.554) | TCGA-EA-A3HU-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |
KRT1 | SNV | Missense_Mutation | novel | c.971N>G | p.Ser324Cys | p.S324C | P04264 | protein_coding | deleterious(0.02) | probably_damaging(0.923) | TCGA-EK-A2IP-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | SD |