GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:0022411111 | Esophagus | ESCC | cellular component disassembly | 305/8552 | 443/18723 | 1.94e-23 | 4.57e-21 | 305 |
GO:00073698 | Esophagus | ESCC | gastrulation | 115/8552 | 185/18723 | 4.35e-06 | 4.64e-05 | 115 |
GO:00074926 | Esophagus | ESCC | endoderm development | 54/8552 | 77/18723 | 1.20e-05 | 1.12e-04 | 54 |
GO:00301984 | Esophagus | ESCC | extracellular matrix organization | 171/8552 | 301/18723 | 6.08e-05 | 4.67e-04 | 171 |
GO:00430624 | Esophagus | ESCC | extracellular structure organization | 171/8552 | 302/18723 | 7.73e-05 | 5.76e-04 | 171 |
GO:00452294 | Esophagus | ESCC | external encapsulating structure organization | 172/8552 | 304/18723 | 7.80e-05 | 5.80e-04 | 172 |
GO:00017064 | Esophagus | ESCC | endoderm formation | 38/8552 | 54/18723 | 2.08e-04 | 1.31e-03 | 38 |
GO:00017044 | Esophagus | ESCC | formation of primary germ layer | 75/8552 | 121/18723 | 2.17e-04 | 1.36e-03 | 75 |
GO:00359873 | Esophagus | ESCC | endodermal cell differentiation | 32/8552 | 45/18723 | 4.87e-04 | 2.70e-03 | 32 |
GO:00329631 | Esophagus | ESCC | collagen metabolic process | 62/8552 | 104/18723 | 2.90e-03 | 1.22e-02 | 62 |
GO:00226172 | Esophagus | ESCC | extracellular matrix disassembly | 39/8552 | 63/18723 | 6.92e-03 | 2.52e-02 | 39 |
GO:00224117 | Liver | Cirrhotic | cellular component disassembly | 182/4634 | 443/18723 | 1.59e-14 | 1.54e-12 | 182 |
GO:00323551 | Liver | Cirrhotic | response to estradiol | 51/4634 | 141/18723 | 1.60e-03 | 1.04e-02 | 51 |
GO:0007492 | Liver | Cirrhotic | endoderm development | 29/4634 | 77/18723 | 8.02e-03 | 3.76e-02 | 29 |
GO:002241112 | Liver | HCC | cellular component disassembly | 282/7958 | 443/18723 | 1.02e-19 | 1.38e-17 | 282 |
GO:00323552 | Liver | HCC | response to estradiol | 81/7958 | 141/18723 | 2.39e-04 | 1.79e-03 | 81 |
GO:00074921 | Liver | HCC | endoderm development | 43/7958 | 77/18723 | 1.24e-02 | 4.51e-02 | 43 |
GO:0022411113 | Thyroid | PTC | cellular component disassembly | 232/5968 | 443/18723 | 1.36e-19 | 1.75e-17 | 232 |
GO:000736910 | Thyroid | PTC | gastrulation | 84/5968 | 185/18723 | 7.58e-05 | 6.52e-04 | 84 |
GO:00017046 | Thyroid | PTC | formation of primary germ layer | 57/5968 | 121/18723 | 3.23e-04 | 2.23e-03 | 57 |
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 |
MMP15 | SNV | Missense_Mutation | rs773736310 | c.526N>T | p.Pro176Ser | p.P176S | P51511 | protein_coding | deleterious(0.01) | benign(0.208) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
MMP15 | SNV | Missense_Mutation | novel | c.1114N>A | p.Gly372Arg | p.G372R | P51511 | protein_coding | deleterious(0) | probably_damaging(0.999) | TCGA-AJ-A3BH-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | Unknown | I/II | Unknown | Unknown | SD |
MMP15 | SNV | Missense_Mutation | | c.734N>T | p.Ser245Ile | p.S245I | P51511 | protein_coding | deleterious(0) | benign(0.354) | TCGA-AP-A059-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | >=65 | I/II | Unknown | Unknown | SD |
MMP15 | SNV | Missense_Mutation | rs774413461 | c.359N>A | p.Arg120Gln | p.R120Q | P51511 | protein_coding | tolerated(0.34) | benign(0.003) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MMP15 | SNV | Missense_Mutation | rs757782458 | c.1225N>A | p.Gly409Arg | p.G409R | P51511 | protein_coding | deleterious(0.02) | benign(0.393) | TCGA-AP-A0LM-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | cisplatin | SD |
MMP15 | SNV | Missense_Mutation | rs776311792 | c.226G>A | p.Ala76Thr | p.A76T | P51511 | protein_coding | deleterious(0.04) | benign(0.003) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MMP15 | SNV | Missense_Mutation | novel | c.1688T>C | p.Val563Ala | p.V563A | P51511 | protein_coding | tolerated(0.72) | benign(0) | TCGA-AP-A1DK-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |
MMP15 | SNV | Missense_Mutation | novel | c.1283N>A | p.Gly428Asp | p.G428D | P51511 | protein_coding | deleterious(0) | probably_damaging(0.998) | TCGA-AX-A1CE-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unspecific | Paclitaxel | SD |
MMP15 | SNV | Missense_Mutation | novel | c.343N>T | p.Asp115Tyr | p.D115Y | P51511 | protein_coding | deleterious(0) | probably_damaging(0.997) | TCGA-AX-A2HC-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | III/IV | Chemotherapy | paclitaxel | PD |
MMP15 | SNV | Missense_Mutation | rs147283654 | c.380N>A | p.Arg127Gln | p.R127Q | P51511 | protein_coding | tolerated(0.1) | probably_damaging(0.953) | TCGA-B5-A11E-01 | Endometrium | uterine corpus endometrioid carcinoma | Female | <65 | I/II | Unknown | Unknown | SD |