| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| JC | NC_000913_3_hsa_tpiA | 1,158,725 | Δ96 bp | 32.8% | coding (857‑952/1434 nt) | ptsG → | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| New junction evidence | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | reads (cov) | reads (cov) | score | skew | freq | annotation | gene | product | ||
| * | ? | NC_000913_3_hsa_tpiA | = 1158724 | 19 (0.590) | 11 (0.340) | 10/276 | NT | 32.8% | coding (856/1434 nt) | ptsG | fused glucose‑specific PTS enzymes: IIB component/IIC component |
| ? | NC_000913_3_hsa_tpiA | 1158821 = | 26 (0.810) | coding (953/1434 nt) | ptsG | fused glucose‑specific PTS enzymes: IIB component/IIC component | |||||
ACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACTGTGGCTGTTCCCGATCGTCGGTATCGGTTATGCGATT > NC_000913_3_hsa_tpiA/1158677‑1158966 | aCTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCCGTACATCATCCTCGCGGTTCTCGCa > 2:510693/1‑149 (MQ=255) ctGCTAAACCAGAAACCCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGGCCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGc < 1:122565/149‑1 (MQ=255) ttatatggcgggtgacccgactgcgggtaaactgtctggtggcttcctgttcaaaatgtacggtctgccagctgccgcaattgctatctggcactctgctaaaccagaaaaccgcccgaaaatgggcggtattatgatctTTGCAGGcc > 2:275854‑M2/141‑149 (MQ=255) tcTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCt < 1:440965/148‑1 (MQ=255) cTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTg > 1:372593/1‑149 (MQ=255) cTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGAGCCTGTACATCATCCACGCGATTCTGGCCCGCCTg > 1:249047/1‑149 (MQ=255) taGATAACCTCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGTTATCACCGAGCCGACCGAGTGCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTc < 1:143348/148‑1 (MQ=255) cAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGCCCTCGTTCCTGACCGGTATCACCGCGCCGATCGAGTTCTCCTGCATGTTCGTTGCCCCGATCCTGTAAATCACCCCCTCGATTCGTGACGGCCTGGCATTc > 2:111100/1‑149 (MQ=255) cgcgcgAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTGTCGCCGAGCCGATCGAGGTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGAGTCTGGCAGGCCAGTCATTCCCAATCTg > 1:206278/1‑149 (MQ=255) ctgggggtaaactgtctggttgcttcctgttcaaaatgtacggtctgccagctgccgcaattgctatctggcactctgctaaaccagaaaaccgcgcgatagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTAtt < 2:117834‑M2/29‑1 (MQ=255) tgcgggtaaactgtctggtggcttcctgttcaaaatgtacggtctgccagctgccgcaattgctatctggcactctgctaaaccagaaaaccgcgcgaaagtgggcgggattatgatctTGGCAGGCCTGGCATTCCCAATCTGGAttc > 1:571209‑M2/120‑149 (MQ=255) tGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCCGTCTGGGTTCTTCTg > 1:231891/1‑149 (MQ=255) ggCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATGCGTATTCTTCTggg > 2:578656/1‑149 (MQ=255) actgtctggtggcttcctgttcaaaatgtacggtctgccagctgccgcaattgctatctggcactctgctaaaccagaaaaccgcgcgaaagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGa > 2:340525‑M2/111‑149 (MQ=255) ggTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGAt < 2:270187/149‑1 (MQ=255) gtggcttcctgttcaaaatggacggtctgccagctgccgcaattgctatctgtcactctgctaaaccagaaaaccgcgcgaaagtggtcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGAc < 2:543046‑M2/47‑1 (MQ=255) gtggcttcatgtgcaaacggtacggtctgccggctgcggcaattggtatctggcacgctgctaaaccagaaaaccgcgcgaaagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGAc < 2:215966‑M2/47‑1 (MQ=255) gATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTAATCTGCTGGGGATGCGTGACg > 1:253535/1‑149 (MQ=255) aaatgtacggtctgccagctgccgcaattgctatctggcactctgctaaaccagaaaaccgcgcgaaagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCg < 1:227762‑M2/62‑1 (MQ=255) atttacggtctgccagctgccgcaattgctatctggcactctgctaaaccagaaaaccgcgcgaaagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCa < 1:534073‑M2/64‑1 (MQ=255) acggccagccagtggccgcaattgctatctggcactctgctaaaccagaaaaccgcgcgaaagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGt < 2:278789‑M2/68‑1 (MQ=255) cccgACCGGTAGCGCTGAGCCGATCGAGTGCTCCTGCATGTTCGTTGTGCTGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTTTCTTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGa < 2:143979/146‑1 (MQ=255) ccTGCCCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGa < 2:162754/149‑1 (MQ=255) ccGAGCCGCTCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCCATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGtt < 1:44523/149‑1 (MQ=255) aTCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTgg > 1:83430/1‑149 (MQ=255) aTCGAGTCCTCCTTCACGTTCCTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGCCTCCTCCTGGCGCTGCGTGGCGGTACGTCGTTGTCGCATGGCACGATCGACTTCATCGTTCTTCCTgg > 2:594409/1‑149 (MQ=255) ctgAGTTGTCTTGCATGTTCGGTGGGCTCATCCTGTCGGGCTTGCGCGTGTTTCTGGCAGGCCTGGCATTCCCAATCTTTCTTCTTGTGGGGATGCGTGATGGGGCGCCCCAGGCACACGGTCTGTTAGACTTCATCGTTCTGTCTGGt < 2:131355/147‑1 (MQ=255) ccGAGTTGTCCTTCATGTTCGGTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTCCTGGGGATTCGTTGCTGGACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGt < 2:101097/148‑1 (MQ=255) caccttgctaaaccagaaaaccgcgcgaaagttggccgtattatgatctTGGCACGCCTGGCATTCCCCTTCCGTATCCTCCGGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAAcag < 1:84758‑M2/100‑1 (MQ=255) ctgctaaaccagaaaaccgcccgaaagtgggcggtattatgatctTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACagcagc < 1:191358‑M2/104‑1 (MQ=255) ttCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGACTGGTAACAGCAGCaa > 1:329353/1‑149 (MQ=255) ttCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCCGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACtgtg > 2:458052/1‑149 (MQ=255) gTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATACGTGACGGTACGTCGTTCTCGCACGGTCTGCTCGACTTCATCGTTCTGTCTGGCACCAGGAGCTAACTCTGACt > 2:261385/1‑149 (MQ=255) ccGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACTGTGGCTGTTccc < 1:430211/149‑1 (MQ=255) ccGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTATGTCTGGTAACAGCCGCAAACTGTGGCGGtttca > 1:97786/1‑146 (MQ=255) tCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGGGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACTGTGGCTGTTCCCGAtc < 1:66558/149‑1 (MQ=255) aCGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAACATGTGGCTGTTCCCGATCGTCGGTATCGGTTAt > 2:343428/1‑149 (MQ=255) aCGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTAACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACTGTGGCTGTTCCCGATCGCCGTTATCGATTAt > 2:19334/1‑149 (MQ=255) gttCTGGGCGGCCTGGCATTCCCATGTTGTGTTCTTCTGGGTGTTGGTGAGGGTACGTCGTTCTCGCAGGGTCTGATCGACTTCATCGTTCTGTATGGTAACAGCAGCAAACTGTGGCTGTTCCCGATCGTCGGTATCGGTTATGCGAt < 2:74896/148‑1 (MQ=255) ttCTGGCAGGCTTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACTGTGGCTGTTCCCGATCGTCGGTATCGGTTATGCGAtt < 1:224992/149‑1 (MQ=255) | ACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACGGTACGTCGTTCTCGCACGGTCTGATCGACTTCATCGTTCTGTCTGGTAACAGCAGCAAACTGTGGCTGTTCCCGATCGTCGGTATCGGTTATGCGATT > NC_000913_3_hsa_tpiA/1158677‑1158966 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 27 ≤ 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. |