GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0071383112 | Thyroid | PTC | cellular response to steroid hormone stimulus | 98/5968 | 204/18723 | 9.83e-07 | 1.47e-05 | 98 |
GO:0051101113 | Thyroid | PTC | regulation of DNA binding | 63/5968 | 118/18723 | 1.00e-06 | 1.50e-05 | 63 |
GO:000717819 | Thyroid | PTC | transmembrane receptor protein serine/threonine kinase signaling pathway | 156/5968 | 355/18723 | 1.02e-06 | 1.51e-05 | 156 |
GO:0010811112 | Thyroid | PTC | positive regulation of cell-substrate adhesion | 65/5968 | 123/18723 | 1.10e-06 | 1.62e-05 | 65 |
GO:0034329111 | Thyroid | PTC | cell junction assembly | 180/5968 | 420/18723 | 1.17e-06 | 1.69e-05 | 180 |
GO:000716020 | Thyroid | PTC | cell-matrix adhesion | 109/5968 | 233/18723 | 1.28e-06 | 1.84e-05 | 109 |
GO:000165517 | Thyroid | PTC | urogenital system development | 149/5968 | 338/18723 | 1.41e-06 | 2.01e-05 | 149 |
GO:01200349 | Thyroid | PTC | positive regulation of plasma membrane bounded cell projection assembly | 57/5968 | 105/18723 | 1.60e-06 | 2.25e-05 | 57 |
GO:005160420 | Thyroid | PTC | protein maturation | 132/5968 | 294/18723 | 1.71e-06 | 2.39e-05 | 132 |
GO:0008631112 | Thyroid | PTC | intrinsic apoptotic signaling pathway in response to oxidative stress | 30/5968 | 45/18723 | 1.72e-06 | 2.39e-05 | 30 |
GO:007200114 | Thyroid | PTC | renal system development | 135/5968 | 302/18723 | 1.76e-06 | 2.43e-05 | 135 |
GO:000919920 | Thyroid | PTC | ribonucleoside triphosphate metabolic process | 50/5968 | 89/18723 | 1.81e-06 | 2.50e-05 | 50 |
GO:0043281113 | Thyroid | PTC | regulation of cysteine-type endopeptidase activity involved in apoptotic process | 99/5968 | 209/18723 | 1.93e-06 | 2.64e-05 | 99 |
GO:0000381111 | Thyroid | PTC | regulation of alternative mRNA splicing, via spliceosome | 37/5968 | 60/18723 | 1.93e-06 | 2.64e-05 | 37 |
GO:005185117 | Thyroid | PTC | modulation by host of symbiont process | 37/5968 | 60/18723 | 1.93e-06 | 2.64e-05 | 37 |
GO:000616327 | Thyroid | PTC | purine nucleotide metabolic process | 170/5968 | 396/18723 | 2.02e-06 | 2.75e-05 | 170 |
GO:0034446111 | Thyroid | PTC | substrate adhesion-dependent cell spreading | 58/5968 | 108/18723 | 2.07e-06 | 2.82e-05 | 58 |
GO:004867517 | Thyroid | PTC | axon extension | 63/5968 | 120/18723 | 2.14e-06 | 2.89e-05 | 63 |
GO:000740918 | Thyroid | PTC | axonogenesis | 178/5968 | 418/18723 | 2.17e-06 | 2.91e-05 | 178 |
GO:000914526 | Thyroid | PTC | purine nucleoside triphosphate biosynthetic process | 41/5968 | 69/18723 | 2.17e-06 | 2.91e-05 | 41 |
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 |