Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
MC JC | NC_000913_3_hsa_tpiA | 257,908 | Δ776 bp | [crl] | [crl] |
Missing coverage evidence... | ||||||||||
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seq id | start | end | size | ←reads | reads→ | gene | description | |||
* | * | ÷ | NC_000913_3_hsa_tpiA | 257908–258674 | 258683 | 10–776 | 48 [0] | [0] 48 | [crl] | [crl] |
New junction evidence | |||||||||||
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seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
* | ? | NC_000913_3_hsa_tpiA | = 257907 | 0 (0.000) | 42 (0.840) | 35/268 | 0.5 | 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 |
TCGAAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTA‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/257752‑257907 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑tgaaggtaAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258684‑258831 TCGAAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTATCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGT > 1:894283/1‑149 ctAAAAACGCTTGTTTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTG < 1:647681/147‑1 AAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAA < 2:768014/149‑1 CTTGTGTTAAAGATTTGCTAAATTTTGCCATTTTGGGAAAACAGCTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACAACCGAAGATCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGT < 1:257097/149‑1 TTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTG < 1:139523/149‑1 GTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AA < 1:727432/149‑1 TTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAG > 2:551274/1‑149 TAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCT > 1:580088/1‑149 AATTTTTCCAATTTGCTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCAGAAGAGCAAATTGAACAAAAAATTTACCGCACTAGCCCCGTATATTCCTGAAGGTAAGTGCA‑AAAATAATCGATTCTTT > 2:742347/1‑149 CCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATT < 1:682244/149‑1 CCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGGAAGTGGA‑AAGATAATCGATTCTTTTTCCATT > 1:566673/1‑149 TTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCATGAAGGTAAGTACA‑AAGATAATCGATTCTTTTTCGATTGTCc > 2:471492/1‑148 AAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCCTCAAGGTAACTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGT > 2:548503/1‑149 AAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATCATCGTGAACGGAACCACA‑AAGAGAATCGATTCTTTTTCGATTGTCTGGCTGTA > 2:642801/1‑149 TTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTC > 1:883885/1‑149 TGCATCACAACAGGAGAAAGCAATGACGTCACAGAGTCGAGCGTCGAATAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCA < 2:416573/149‑1 CATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAAC < 1:636888/149‑1 ACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGACAGTATATTCGTGAAGATAAGTGCA‑AAGATAATCGATTCTTTTTCGGTTGTCTGGCTGTATGCGTCACGGTGA > 2:476623/1‑149 GAGATAGCAATGACGTTATCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGC < 2:894283/149‑1 CAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAA > 2:574055/1‑149 AATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCT > 1:353724/1‑114 AATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCT < 2:353724/114‑1 CGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGT < 1:762622/149‑1 CGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGT < 2:340377/149‑1 GAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCT > 1:322171/1‑149 AGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTG < 1:551274/149‑1 tGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGG < 1:764767/148‑1 aCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTACA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTG > 2:792105/2‑149 CCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTCTATTCGAGAAGGTAAGTGCA‑AAGATAATCGCTTCTTTTTCGATTGTCTGGCTGTATACGTCAACATGAAACCGGGACCGGCAGTGCGTGCAATCTGGGACTGGTG > 2:527185/1‑149 CCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTG > 2:455557/1‑149 CCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTG > 1:735377/1‑133 CCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTG < 2:735377/133‑1 GCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAG < 1:455557/149‑1 CAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGC < 2:580088/149‑1 TGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAA < 2:697624/149‑1 AAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTAAGTGGATCGGAAAAGCG‑TTCGGTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAG < 1:851705/149‑1 CCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACA > 1:683676/1‑149 CCCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACA < 1:88103/149‑1 CCGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAG > 1:47884/1‑149 CGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGT > 1:135555/1‑149 CGTATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGT > 1:337745/1‑149 TATATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTA > 1:307953/1‑149 ATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCA < 1:64379/149‑1 ATTCGTGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCA < 2:883885/149‑1 ATTCGTGAAGGTAAGTGCA‑AAAATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCA < 1:826133/149‑1 TGAAGGTAATGGCA‑AAGGTAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTG < 2:626549/149‑1 TGAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTG < 2:135555/149‑1 GAAGGTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGG > 2:465975/1‑149 GTAAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTG > 1:867984/1‑149 GTAAGTGAC‑AAGCTAATCGATTCTTTTTAGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTG < 1:642801/149‑1 AAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGTGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > 1:669395/1‑149 TCGAAAAACGCTTGTGTTAAAAATTTGCTAAATTTTGCCAATTTGGTAAAACAGTTGCATCACAACAGGAGATAGCAATGACGTTACCGAGTGGACACCCGAAGAGCAGATTGATCAAAAAATTTACCGCACTAGGCCCGTATATTCGTGAAGGTA‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑ > NC_000913_3_hsa_tpiA/257752‑257907 ‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑‑tgaaggtaAGTGCA‑AAGATAATCGATTCTTTTTCGATTGTCTGGCTGTATGCGTCAACGTGAAACCGGCACCGGAAGTGCGTGAATTCTGGGGCTGGTGGATGGAGCTGGAAGCGCAGGAATCCCGTTTTACCTACAGTTACCAGTTTGGTCTGTT > NC_000913_3_hsa_tpiA/258684‑258831 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |
Reads not counted as support for junction |
read_name Not counted due to insufficient overlap past the breakpoint. |
read_name Not counted due to not crossing MOB target site duplication. |