GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00303239 | Esophagus | ESCC | respiratory tube development | 112/8552 | 181/18723 | 7.82e-06 | 7.69e-05 | 112 |
GO:006056210 | Esophagus | ESCC | epithelial tube morphogenesis | 187/8552 | 325/18723 | 9.95e-06 | 9.44e-05 | 187 |
GO:00605417 | Esophagus | ESCC | respiratory system development | 123/8552 | 203/18723 | 1.26e-05 | 1.15e-04 | 123 |
GO:00303249 | Esophagus | ESCC | lung development | 109/8552 | 177/18723 | 1.40e-05 | 1.27e-04 | 109 |
GO:00604257 | Esophagus | ESCC | lung morphogenesis | 37/8552 | 50/18723 | 4.42e-05 | 3.51e-04 | 37 |
GO:00604414 | Esophagus | ESCC | epithelial tube branching involved in lung morphogenesis | 22/8552 | 29/18723 | 9.30e-04 | 4.73e-03 | 22 |
GO:00487052 | Esophagus | ESCC | skeletal system morphogenesis | 120/8552 | 220/18723 | 4.90e-03 | 1.89e-02 | 120 |
GO:00017639 | Esophagus | ESCC | morphogenesis of a branching structure | 106/8552 | 196/18723 | 1.08e-02 | 3.66e-02 | 106 |
GO:006056222 | Thyroid | ATC | epithelial tube morphogenesis | 156/6293 | 325/18723 | 4.48e-08 | 8.14e-07 | 156 |
GO:003032321 | Thyroid | ATC | respiratory tube development | 93/6293 | 181/18723 | 5.67e-07 | 8.02e-06 | 93 |
GO:003032421 | Thyroid | ATC | lung development | 90/6293 | 177/18723 | 1.53e-06 | 1.88e-05 | 90 |
GO:006054121 | Thyroid | ATC | respiratory system development | 100/6293 | 203/18723 | 2.66e-06 | 3.08e-05 | 100 |
GO:009028721 | Thyroid | ATC | regulation of cellular response to growth factor stimulus | 140/6293 | 304/18723 | 3.91e-06 | 4.33e-05 | 140 |
GO:000176317 | Thyroid | ATC | morphogenesis of a branching structure | 96/6293 | 196/18723 | 5.68e-06 | 6.04e-05 | 96 |
GO:006113815 | Thyroid | ATC | morphogenesis of a branching epithelium | 88/6293 | 182/18723 | 2.55e-05 | 2.20e-04 | 88 |
GO:00487053 | Thyroid | ATC | skeletal system morphogenesis | 101/6293 | 220/18723 | 9.48e-05 | 6.93e-04 | 101 |
GO:00487545 | Thyroid | ATC | branching morphogenesis of an epithelial tube | 71/6293 | 151/18723 | 4.18e-04 | 2.50e-03 | 71 |
GO:00458791 | Thyroid | ATC | negative regulation of smoothened signaling pathway | 20/6293 | 32/18723 | 7.67e-04 | 4.24e-03 | 20 |
GO:0008589 | Thyroid | ATC | regulation of smoothened signaling pathway | 40/6293 | 81/18723 | 2.36e-03 | 1.10e-02 | 40 |
GO:0007224 | Thyroid | ATC | smoothened signaling pathway | 60/6293 | 138/18723 | 9.75e-03 | 3.57e-02 | 60 |
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 |
HHIP | SNV | Missense_Mutation | | c.444N>A | p.Phe148Leu | p.F148L | Q96QV1 | protein_coding | tolerated(0.13) | probably_damaging(0.982) | TCGA-BS-A0UV-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | | c.1743N>C | p.Lys581Asn | p.K581N | Q96QV1 | protein_coding | deleterious(0) | benign(0.247) | TCGA-D1-A103-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | | c.1524N>G | p.Ser508Arg | p.S508R | Q96QV1 | protein_coding | tolerated(0.2) | possibly_damaging(0.637) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.2024N>A | p.Arg675Lys | p.R675K | Q96QV1 | protein_coding | tolerated_low_confidence(0.06) | benign(0.107) | TCGA-D1-A16X-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1711N>T | p.Met571Leu | p.M571L | Q96QV1 | protein_coding | tolerated(0.39) | benign(0) | TCGA-D1-A175-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
HHIP | SNV | Missense_Mutation | | c.54C>A | p.Phe18Leu | p.F18L | Q96QV1 | protein_coding | tolerated_low_confidence(0.35) | benign(0.007) | TCGA-D1-A17Q-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1609N>T | p.Leu537Phe | p.L537F | Q96QV1 | protein_coding | deleterious(0.04) | benign(0.214) | TCGA-DF-A2KU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | novel | c.1376N>G | p.Asn459Ser | p.N459S | Q96QV1 | protein_coding | deleterious(0.04) | possibly_damaging(0.869) | TCGA-DI-A1BU-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Chemotherapy | paclitaxel | SD |
HHIP | SNV | Missense_Mutation | | c.444C>A | p.Phe148Leu | p.F148L | Q96QV1 | protein_coding | tolerated(0.13) | probably_damaging(0.982) | TCGA-E6-A1LX-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
HHIP | SNV | Missense_Mutation | rs200798148 | c.716N>T | p.Ser239Leu | p.S239L | Q96QV1 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-EO-A22R-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |