GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:005076914 | Thyroid | PTC | positive regulation of neurogenesis | 105/5968 | 225/18723 | 2.28e-06 | 3.05e-05 | 105 |
GO:0010952113 | Thyroid | PTC | positive regulation of peptidase activity | 94/5968 | 197/18723 | 2.34e-06 | 3.11e-05 | 94 |
GO:0006898110 | Thyroid | PTC | receptor-mediated endocytosis | 112/5968 | 244/18723 | 2.87e-06 | 3.74e-05 | 112 |
GO:0010833111 | Thyroid | PTC | telomere maintenance via telomere lengthening | 46/5968 | 81/18723 | 3.10e-06 | 4.04e-05 | 46 |
GO:0001667112 | Thyroid | PTC | ameboidal-type cell migration | 198/5968 | 475/18723 | 3.36e-06 | 4.34e-05 | 198 |
GO:004340124 | Thyroid | PTC | steroid hormone mediated signaling pathway | 69/5968 | 136/18723 | 3.57e-06 | 4.58e-05 | 69 |
GO:004504716 | Thyroid | PTC | protein targeting to ER | 28/5968 | 42/18723 | 3.83e-06 | 4.80e-05 | 28 |
GO:0010634111 | Thyroid | PTC | positive regulation of epithelial cell migration | 85/5968 | 176/18723 | 3.83e-06 | 4.80e-05 | 85 |
GO:2000116113 | Thyroid | PTC | regulation of cysteine-type endopeptidase activity | 108/5968 | 235/18723 | 3.99e-06 | 4.99e-05 | 108 |
GO:0032231112 | Thyroid | PTC | regulation of actin filament bundle assembly | 56/5968 | 105/18723 | 4.10e-06 | 5.11e-05 | 56 |
GO:000920626 | Thyroid | PTC | purine ribonucleoside triphosphate biosynthetic process | 40/5968 | 68/18723 | 4.11e-06 | 5.11e-05 | 40 |
GO:1900024111 | Thyroid | PTC | regulation of substrate adhesion-dependent cell spreading | 35/5968 | 57/18723 | 4.20e-06 | 5.20e-05 | 35 |
GO:0051492111 | Thyroid | PTC | regulation of stress fiber assembly | 50/5968 | 91/18723 | 4.33e-06 | 5.35e-05 | 50 |
GO:000675325 | Thyroid | PTC | nucleoside phosphate metabolic process | 205/5968 | 497/18723 | 5.24e-06 | 6.35e-05 | 205 |
GO:000911725 | Thyroid | PTC | nucleotide metabolic process | 202/5968 | 489/18723 | 5.46e-06 | 6.60e-05 | 202 |
GO:003424916 | Thyroid | PTC | negative regulation of cellular amide metabolic process | 122/5968 | 273/18723 | 5.50e-06 | 6.64e-05 | 122 |
GO:005076716 | Thyroid | PTC | regulation of neurogenesis | 156/5968 | 364/18723 | 5.86e-06 | 7.05e-05 | 156 |
GO:003003827 | Thyroid | PTC | contractile actin filament bundle assembly | 56/5968 | 106/18723 | 6.01e-06 | 7.21e-05 | 56 |
GO:004314927 | Thyroid | PTC | stress fiber assembly | 56/5968 | 106/18723 | 6.01e-06 | 7.21e-05 | 56 |
GO:001931810 | Thyroid | PTC | hexose metabolic process | 108/5968 | 237/18723 | 6.42e-06 | 7.65e-05 | 108 |
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 |