GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:000701510 | Cervix | CC | actin filament organization | 109/2311 | 442/18723 | 4.92e-13 | 2.45e-10 | 109 |
GO:005125810 | Cervix | CC | protein polymerization | 70/2311 | 297/18723 | 5.20e-08 | 3.11e-06 | 70 |
GO:00081549 | Cervix | CC | actin polymerization or depolymerization | 51/2311 | 218/18723 | 4.05e-06 | 1.05e-04 | 51 |
GO:00300419 | Cervix | CC | actin filament polymerization | 45/2311 | 191/18723 | 1.20e-05 | 2.54e-04 | 45 |
GO:000701528 | Skin | AK | actin filament organization | 85/1910 | 442/18723 | 5.94e-09 | 4.14e-07 | 85 |
GO:005125827 | Skin | AK | protein polymerization | 53/1910 | 297/18723 | 3.74e-05 | 6.20e-04 | 53 |
GO:000815425 | Skin | AK | actin polymerization or depolymerization | 39/1910 | 218/18723 | 3.56e-04 | 3.54e-03 | 39 |
GO:0051258112 | Skin | cSCC | protein polymerization | 114/4864 | 297/18723 | 1.55e-06 | 2.62e-05 | 114 |
GO:000701529 | Skin | cSCC | actin filament organization | 156/4864 | 442/18723 | 7.37e-06 | 1.02e-04 | 156 |
GO:0008154110 | Skin | cSCC | actin polymerization or depolymerization | 81/4864 | 218/18723 | 1.70e-04 | 1.47e-03 | 81 |
GO:003004124 | Skin | cSCC | actin filament polymerization | 68/4864 | 191/18723 | 1.98e-03 | 1.18e-02 | 68 |
GO:0007015210 | Thyroid | ATC | actin filament organization | 227/6293 | 442/18723 | 5.96e-15 | 3.85e-13 | 227 |
GO:005125829 | Thyroid | ATC | protein polymerization | 159/6293 | 297/18723 | 9.33e-13 | 3.96e-11 | 159 |
GO:0008154111 | Thyroid | ATC | actin polymerization or depolymerization | 119/6293 | 218/18723 | 1.32e-10 | 4.08e-09 | 119 |
GO:0030041111 | Thyroid | ATC | actin filament polymerization | 101/6293 | 191/18723 | 2.91e-08 | 5.50e-07 | 101 |
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 |
DIAPH3 | SNV | Missense_Mutation | | c.1297N>A | p.Ala433Thr | p.A433T | Q9NSV4 | protein_coding | tolerated(0.07) | possibly_damaging(0.567) | TCGA-AP-A0LE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIAPH3 | SNV | Missense_Mutation | | c.3511N>T | p.Leu1171Phe | p.L1171F | Q9NSV4 | protein_coding | deleterious_low_confidence(0.03) | benign(0.055) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DIAPH3 | SNV | Missense_Mutation | | c.3265N>T | p.Arg1089Trp | p.R1089W | Q9NSV4 | protein_coding | deleterious_low_confidence(0) | benign(0.328) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DIAPH3 | SNV | Missense_Mutation | rs368347883 | c.2581N>A | p.Gly861Arg | p.G861R | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DIAPH3 | SNV | Missense_Mutation | | c.1415N>T | p.Arg472Ile | p.R472I | Q9NSV4 | protein_coding | deleterious(0) | probably_damaging(0.993) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DIAPH3 | SNV | Missense_Mutation | | c.282N>T | p.Lys94Asn | p.K94N | Q9NSV4 | protein_coding | tolerated(0.24) | benign(0.021) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DIAPH3 | SNV | Missense_Mutation | novel | c.2101N>A | p.Glu701Lys | p.E701K | Q9NSV4 | protein_coding | tolerated(0.39) | possibly_damaging(0.575) | TCGA-AP-A1DM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
DIAPH3 | SNV | Missense_Mutation | novel | c.59N>A | p.Pro20His | p.P20H | Q9NSV4 | protein_coding | deleterious_low_confidence(0.05) | benign(0.001) | TCGA-AP-A1DR-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
DIAPH3 | SNV | Missense_Mutation | rs776010269 | c.2121A>C | p.Lys707Asn | p.K707N | Q9NSV4 | protein_coding | deleterious(0) | possibly_damaging(0.756) | TCGA-AX-A05Z-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | adriamycin | SD |
DIAPH3 | SNV | Missense_Mutation | | c.515N>A | p.Arg172Gln | p.R172Q | Q9NSV4 | protein_coding | tolerated(0.09) | benign(0.031) | TCGA-AX-A063-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |