GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00307056 | Lung | IAC | cytoskeleton-dependent intracellular transport | 40/2061 | 195/18723 | 7.30e-05 | 1.54e-03 | 40 |
GO:00315032 | Lung | IAC | protein-containing complex localization | 42/2061 | 220/18723 | 2.60e-04 | 4.32e-03 | 42 |
GO:0099111 | Lung | IAC | microtubule-based transport | 35/2061 | 190/18723 | 1.55e-03 | 1.64e-02 | 35 |
GO:0060271 | Lung | IAC | cilium assembly | 55/2061 | 337/18723 | 1.84e-03 | 1.88e-02 | 55 |
GO:0044782 | Lung | IAC | cilium organization | 58/2061 | 368/18723 | 3.15e-03 | 2.75e-02 | 58 |
GO:00109704 | Lung | IAC | transport along microtubule | 28/2061 | 155/18723 | 5.72e-03 | 4.18e-02 | 28 |
GO:00602711 | Lung | MIAC | cilium assembly | 37/967 | 337/18723 | 1.29e-05 | 9.85e-04 | 37 |
GO:00447821 | Lung | MIAC | cilium organization | 38/967 | 368/18723 | 3.93e-05 | 2.08e-03 | 38 |
GO:003070522 | Lung | MIAC | cytoskeleton-dependent intracellular transport | 20/967 | 195/18723 | 2.72e-03 | 3.75e-02 | 20 |
GO:0007163111 | Thyroid | PTC | establishment or maintenance of cell polarity | 115/5968 | 218/18723 | 1.15e-10 | 3.90e-09 | 115 |
GO:0001701111 | Thyroid | PTC | in utero embryonic development | 175/5968 | 367/18723 | 1.40e-10 | 4.73e-09 | 175 |
GO:0030705111 | Thyroid | PTC | cytoskeleton-dependent intracellular transport | 104/5968 | 195/18723 | 3.87e-10 | 1.24e-08 | 104 |
GO:0048732113 | Thyroid | PTC | gland development | 193/5968 | 436/18723 | 2.88e-08 | 6.42e-07 | 193 |
GO:0001889112 | Thyroid | PTC | liver development | 79/5968 | 147/18723 | 3.08e-08 | 6.82e-07 | 79 |
GO:0061008112 | Thyroid | PTC | hepaticobiliary system development | 80/5968 | 150/18723 | 3.94e-08 | 8.55e-07 | 80 |
GO:00315037 | Thyroid | PTC | protein-containing complex localization | 107/5968 | 220/18723 | 1.47e-07 | 2.82e-06 | 107 |
GO:00109709 | Thyroid | PTC | transport along microtubule | 80/5968 | 155/18723 | 2.48e-07 | 4.32e-06 | 80 |
GO:000182215 | Thyroid | PTC | kidney development | 133/5968 | 293/18723 | 7.57e-07 | 1.18e-05 | 133 |
GO:000165517 | Thyroid | PTC | urogenital system development | 149/5968 | 338/18723 | 1.41e-06 | 2.01e-05 | 149 |
GO:007200114 | Thyroid | PTC | renal system development | 135/5968 | 302/18723 | 1.76e-06 | 2.43e-05 | 135 |
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 |
RPGR | SNV | Missense_Mutation | rs757712647 | c.967N>T | p.Arg323Cys | p.R323C | Q92834 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(1) | TCGA-A2-A0D2-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | SD |
RPGR | SNV | Missense_Mutation | | c.2061G>C | p.Glu687Asp | p.E687D | Q92834 | protein_coding | tolerated_low_confidence(0.13) | benign(0) | TCGA-A2-A0YD-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RPGR | SNV | Missense_Mutation | | c.2197N>A | p.Glu733Lys | p.E733K | Q92834 | protein_coding | deleterious_low_confidence(0.05) | benign(0.007) | TCGA-A2-A0YK-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | cytoxan | SD |
RPGR | SNV | Missense_Mutation | | c.1175N>A | p.Pro392Gln | p.P392Q | Q92834 | protein_coding | deleterious_low_confidence(0.02) | possibly_damaging(0.73) | TCGA-A2-A25A-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Cytoxan | SD |
RPGR | SNV | Missense_Mutation | | c.593N>T | p.Gly198Val | p.G198V | Q92834 | protein_coding | deleterious_low_confidence(0) | probably_damaging(1) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
RPGR | SNV | Missense_Mutation | novel | c.1397T>C | p.Met466Thr | p.M466T | Q92834 | protein_coding | tolerated_low_confidence(0.23) | benign(0.011) | TCGA-AO-A128-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
RPGR | SNV | Missense_Mutation | | c.1850G>T | p.Gly617Val | p.G617V | Q92834 | protein_coding | tolerated_low_confidence(0.16) | benign(0.359) | TCGA-AR-A24X-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RPGR | SNV | Missense_Mutation | novel | c.1327N>T | p.Pro443Ser | p.P443S | Q92834 | protein_coding | tolerated_low_confidence(0.08) | benign(0.029) | TCGA-AR-A5QP-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
RPGR | SNV | Missense_Mutation | novel | c.3146N>G | p.Glu1049Gly | p.E1049G | Q92834 | protein_coding | deleterious_low_confidence(0) | benign(0.003) | TCGA-BH-A0HQ-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
RPGR | SNV | Missense_Mutation | novel | c.457N>A | p.Ala153Thr | p.A153T | Q92834 | protein_coding | deleterious_low_confidence(0.01) | probably_damaging(0.997) | TCGA-C8-A3M8-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | CR |