| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| MC JC | NC_000913_3_hsa_tpiA | 257,908 | Δ776 bp | [crl] | [crl] | |
| Missing coverage evidence... | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| seq id | start | end | size | ←reads | reads→ | gene | description | |||
| * | * | ÷ | NC_000913_3_hsa_tpiA | 257908 | 258683 | 776 | 61 [0] | [1] 62 | [crl] | [crl] |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_tpiA | = 257907 | 0 (0.000) | 57 (0.950) | 46/264 | 0.3 | 100% | intergenic (+8/‑769) | crl/crl | pseudogene, sigma factor‑binding protein, RNA polymerase holoenzyme formation stimulator;regulator; Surface structures; transcriptional regulator of cryptic csgA gene for curli surface fibers/pseudogene, sigma factor‑binding protein, RNA polymerase holoenzyme formation stimulator;regulator; Surface structures; transcriptional regulator of cryptic csgA gene for curli surface fibers |
| ? | NC_000913_3_hsa_tpiA | 258684 = | 0 (0.000) | pseudogene (9/331 nt) | crl | pseudogene, sigma factor‑binding protein, RNA polymerase holoenzyme formation stimulator;regulator; Surface structures; transcriptional regulator of cryptic csgA gene for curli surface fibers | |||||
GCTGATGTCCGGCGGTGCTTTTGCCGTTACGCACCACCCCGTCAGTAGCTGAACAGGAGGGACAGCTGATAGAAACAGAAGCCACTGGAGCACCTCAAAAACACCATCATACACTAAATCAGTAAGTTGGCAGCATCACCTGAAGGTAAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258536‑258831 | cgcttgtgttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaa > 2:85292‑M2/149‑149 (MQ=255) gcttgtgttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAg < 2:716868‑M2/2‑1 (MQ=255) cttgtgttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgacggtaAGt > 1:657997‑M2/147‑149 (MQ=255) ttgtgttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTg > 2:103812‑M2/146‑149 (MQ=255) ttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggcgatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAg > 1:752278‑M2/141‑149 (MQ=255) ttaaaaatttgctaaattttgccaatttggtaaaacagttgcatcacaaaaggagatagcaatgacgttaccgagtgaacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtattttcgtgaaggtaCGTGTAAAg > 2:271240‑M2/141‑149 (MQ=255) aaatttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATaa > 1:764161‑M2/137‑149 (MQ=255) ttgctaaattttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaagaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGa < 1:748986‑M2/17‑1 (MQ=255) tttgccaatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTc < 2:60238‑M2/26‑1 (MQ=255) tttaccactctggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagatcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTc < 2:1065513‑M2/26‑1 (MQ=255) caatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgcagaacagattgatcaaaaaatttaccgcactagacccgtacatacgtgaaggtaATTGCACAGATAATCGATTCGTTTTCAATTg > 2:1072612‑M2/119‑149 (MQ=255) caatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGAAAAGATAATCGATTCTTTTTCGATTg > 1:131697‑M2/119‑149 (MQ=255) aatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCttttt < 1:1063238‑M2/25‑1 (MQ=255) aatttggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCttttt > 2:1063238‑M2/118‑142 (MQ=255) tggtaaaacagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTgg < 1:985769‑M2/36‑1 (MQ=255) gtaaaacagttgcatcacaacaggagatagcaatgaagtcaccaacttgacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCt < 1:27392‑M2/38‑1 (MQ=255) cagttgcatcacaacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGc < 1:768000‑M2/44‑1 (MQ=255) gttgcatcacaacaggagatagcaatgacgttaccgagtggacatccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGt < 1:369712‑M2/46‑1 (MQ=255) tatcacaacaggagatagccatgacgttaccgagtggtctcccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAAc < 1:736660‑M2/50‑1 (MQ=255) aacaggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGaaa > 1:169911‑M2/94‑149 (MQ=255) aacaggagatagcaatgacgttaccgagtggacacccgaagagcagatagatcaaaaaatttaccccactaagcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGATGTATGCGTCGACGTGaaa > 2:5567‑M2/94‑149 (MQ=255) acaggagatagcaatgacggtaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAAc < 1:947063‑M2/57‑1 (MQ=255) caggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAAcc < 2:760680‑M2/58‑1 (MQ=255) caggagatagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATAGCTTCTTATTCAATTATCTGGCTGTATGCGTCAACGTGAAAcc > 1:882247‑M2/92‑149 (MQ=255) atagcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaagtgacggcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCAcc > 1:790685‑M2/86‑149 (MQ=255) tatcaatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCg < 2:691617‑M2/65‑1 (MQ=255) caatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcacgaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCACCGTGAAACCGGCACCGGaa > 1:689478‑M2/82‑149 (MQ=255) aatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCtttt > 2:591691‑M2/81‑104 (MQ=255) aatgacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCtttt < 1:591691‑M2/24‑1 (MQ=255) gacgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGACGTGc > 2:477653‑M2/78‑149 (MQ=255) cgttaccgagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGt < 1:651916‑M2/74‑1 (MQ=255) cgttaccgagtggacaaccgaagagcagattgatcaaaaaatttaccgaactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGt < 2:624244‑M2/74‑1 (MQ=255) gagttgacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAATGTGAAACCGGCACCGGAAGTGCGTGAATTCt > 1:896104‑M2/69‑149 (MQ=255) gagtggacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCCTCAACGTGAAACCGGCACCGGAAGTGCCTGAATTCt > 1:1068233‑M2/69‑149 (MQ=255) gacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTgg < 2:308773‑M2/36‑1 (MQ=255) gacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTgg > 1:308773‑M2/64‑99 (MQ=255) gacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGc > 2:363065‑M2/64‑149 (MQ=255) gacacccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGACTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGc > 1:975675‑M2/64‑149 (MQ=255) ccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCtggtg > 1:917730‑M2/59‑149 (MQ=255) ccgaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGGGCGTTAATTCTGGGGCtggtg > 1:938382‑M2/59‑149 (MQ=255) gaagagcagattggtcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGtgga < 1:484836‑M2/93‑1 (MQ=255) gaagagcagattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATACTTTTTCGATTGTCTGGCTGTATGCGTTAACGTGTAACCGGCACCGGAGGTGCGTTACTTCTGGGGCTGGtgga > 2:941509‑M2/57‑149 (MQ=255) agattgatcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCt < 2:169911‑M2/100‑1 (MQ=255) tgatcaaaaaatttaccgaatgaggcccgtattttcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGGCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGaa < 2:780257‑M2/104‑1 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAgc > 1:719310‑M2/44‑149 (MQ=255) atcaaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGCCACCGGACGTGCGTGACTTCTGGGGCTGGTGGATGGCGCTGGAAgc > 2:495701‑M2/44‑149 (MQ=255) aaaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCa < 1:835850‑M2/109‑1 (MQ=255) aaaaatttaccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAg > 1:341688‑M2/40‑149 (MQ=255) ccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGt < 2:975675‑M2/119‑1 (MQ=255) ccgcactaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTCAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGt > 2:488672‑M2/31‑149 (MQ=255) ctaggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTAc < 2:882247‑M2/124‑1 (MQ=255) taggcccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTAcc > 1:759924‑M2/25‑149 (MQ=255) cccgtatattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAATGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACa < 2:896104‑M2/129‑1 (MQ=255) tattcgtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTAcc > 2:83879‑M2/15‑149 (MQ=255) attcgtgaaggtaAGTGCAAAGATATTCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCa < 1:155405‑M2/136‑1 (MQ=255) gtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTgg > 1:671438‑M2/10‑111 (MQ=255) gtgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTgg < 2:671438‑M2/102‑1 (MQ=255) tgaaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCCGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTg < 1:795589‑M2/141‑1 (MQ=255) aaggtaAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGt < 2:341688‑M2/143‑1 (MQ=255) aaGGTAAGTGCAAAGATAATCGATTCTTTTTTGTTTTTCTGGCTGTATGAATCAACGTGAAAAAGGCCCTGGGCGTGCGTGCCGTCTGAGGCTGGTAGAAGCTGCTGTAAGGTGAGGCATCCCGTTTTCCTTACAGCTCCCCGCTTGGt > 2:211271/1‑149 (MQ=255) gtaAGTGCAAAGATAATCGATTCTTTTTTTTTTTTTTTGCTGTATGCGTCAACGTGAAATAGGCACAGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCACGTTTTACCTACAGTTACCAGTTTGGTCTg > 2:1107637‑M2/4‑149 (MQ=255) aAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGtt < 1:444598‑M2/148‑1 (MQ=255) | GCTGATGTCCGGCGGTGCTTTTGCCGTTACGCACCACCCCGTCAGTAGCTGAACAGGAGGGACAGCTGATAGAAACAGAAGCCACTGGAGCACCTCAAAAACACCATCATACACTAAATCAGTAAGTTGGCAGCATCACCTGAAGGTAAGTGCAAAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258536‑258831 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |