GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:19033113 | Colorectum | MSI-H | regulation of mRNA metabolic process | 43/1319 | 288/18723 | 2.31e-06 | 1.40e-04 | 43 |
GO:19001803 | Colorectum | MSI-H | regulation of protein localization to nucleus | 26/1319 | 136/18723 | 2.64e-06 | 1.53e-04 | 26 |
GO:19004073 | Colorectum | MSI-H | regulation of cellular response to oxidative stress | 20/1319 | 89/18723 | 2.86e-06 | 1.62e-04 | 20 |
GO:00098953 | Colorectum | MSI-H | negative regulation of catabolic process | 46/1319 | 320/18723 | 3.00e-06 | 1.68e-04 | 46 |
GO:00349763 | Colorectum | MSI-H | response to endoplasmic reticulum stress | 39/1319 | 256/18723 | 4.12e-06 | 2.20e-04 | 39 |
GO:19038293 | Colorectum | MSI-H | positive regulation of cellular protein localization | 41/1319 | 276/18723 | 4.49e-06 | 2.37e-04 | 41 |
GO:00313313 | Colorectum | MSI-H | positive regulation of cellular catabolic process | 56/1319 | 427/18723 | 4.89e-06 | 2.54e-04 | 56 |
GO:00432543 | Colorectum | MSI-H | regulation of protein-containing complex assembly | 56/1319 | 428/18723 | 5.25e-06 | 2.70e-04 | 56 |
GO:00450692 | Colorectum | MSI-H | regulation of viral genome replication | 19/1319 | 85/18723 | 5.47e-06 | 2.79e-04 | 19 |
GO:00086313 | Colorectum | MSI-H | intrinsic apoptotic signaling pathway in response to oxidative stress | 13/1319 | 45/18723 | 8.62e-06 | 4.16e-04 | 13 |
GO:00066053 | Colorectum | MSI-H | protein targeting | 44/1319 | 314/18723 | 9.50e-06 | 4.55e-04 | 44 |
GO:00346203 | Colorectum | MSI-H | cellular response to unfolded protein | 20/1319 | 96/18723 | 9.71e-06 | 4.61e-04 | 20 |
GO:19028823 | Colorectum | MSI-H | regulation of response to oxidative stress | 20/1319 | 98/18723 | 1.34e-05 | 6.06e-04 | 20 |
GO:19049513 | Colorectum | MSI-H | positive regulation of establishment of protein localization | 44/1319 | 319/18723 | 1.42e-05 | 6.31e-04 | 44 |
GO:00300993 | Colorectum | MSI-H | myeloid cell differentiation | 50/1319 | 381/18723 | 1.52e-05 | 6.62e-04 | 50 |
GO:00359673 | Colorectum | MSI-H | cellular response to topologically incorrect protein | 22/1319 | 116/18723 | 1.73e-05 | 7.34e-04 | 22 |
GO:00507923 | Colorectum | MSI-H | regulation of viral process | 27/1319 | 164/18723 | 3.02e-05 | 1.20e-03 | 27 |
GO:00345043 | Colorectum | MSI-H | protein localization to nucleus | 40/1319 | 290/18723 | 3.43e-05 | 1.33e-03 | 40 |
GO:19039003 | Colorectum | MSI-H | regulation of viral life cycle | 25/1319 | 148/18723 | 3.78e-05 | 1.43e-03 | 25 |
GO:00108333 | Colorectum | MSI-H | telomere maintenance via telomere lengthening | 17/1319 | 81/18723 | 4.01e-05 | 1.51e-03 | 17 |
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 |
RP1 | SNV | Missense_Mutation | novel | c.81G>C | p.Leu27Phe | p.L27F | P56715 | protein_coding | tolerated(0.65) | benign(0.007) | TCGA-3C-AALI-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Poly E | Complete Response |
RP1 | SNV | Missense_Mutation | rs747714373 | c.2978C>G | p.Ser993Cys | p.S993C | P56715 | protein_coding | deleterious(0.02) | possibly_damaging(0.781) | TCGA-5L-AAT0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RP1 | SNV | Missense_Mutation | | c.4362C>A | p.Ser1454Arg | p.S1454R | P56715 | protein_coding | deleterious(0) | probably_damaging(0.968) | TCGA-A2-A0CW-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | anastrozole | SD |
RP1 | SNV | Missense_Mutation | novel | c.1138N>T | p.Pro380Ser | p.P380S | | protein_coding | deleterious(0.04) | probably_damaging(0.923) | TCGA-A2-A3XV-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | novel | c.983N>G | p.Lys328Arg | p.K328R | | protein_coding | deleterious(0.01) | probably_damaging(0.994) | TCGA-A7-A4SF-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | carboplatin | CR |
RP1 | SNV | Missense_Mutation | | c.2516N>C | p.Gln839Pro | p.Q839P | P56715 | protein_coding | deleterious(0.03) | possibly_damaging(0.641) | TCGA-A8-A06X-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
RP1 | SNV | Missense_Mutation | novel | c.4466C>T | p.Ala1489Val | p.A1489V | P56715 | protein_coding | tolerated(0.22) | benign(0.01) | TCGA-A8-A092-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | CR |
RP1 | SNV | Missense_Mutation | | c.2675N>T | p.Ala892Val | p.A892V | P56715 | protein_coding | tolerated(0.14) | benign(0.039) | TCGA-A8-A09B-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | 5-fluorouracil | SD |
RP1 | SNV | Missense_Mutation | | c.1895N>T | p.Ser632Leu | p.S632L | P56715 | protein_coding | tolerated(0.2) | benign(0.042) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RP1 | SNV | Missense_Mutation | | c.4027N>A | p.Asp1343Asn | p.D1343N | P56715 | protein_coding | tolerated(0.07) | benign(0) | TCGA-AN-A041-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |