Predicted mutation | |||||||
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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 | |||||||||||
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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 |
TTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACG > NC_000913_3_hsa_tpiA/1158585‑1158868 | ttATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCCCGAAAATGGGCGGTATTATGATCTttgcaggcc > 2:275854‑M1/1‑140 (MQ=255) gggatccGTCTGCGGGTAAACCGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTc < 1:136386/144‑1 (MQ=255) ccGACTGCTGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGAc < 1:551471/149‑1 (MQ=255) cTGGGGGTAAACTGTCTGGTTGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGATAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtatt < 2:117834‑M1/149‑30 (MQ=255) tGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGGATTATGATCTtggcaggcctggcattcccaatctggattc > 1:571209‑M1/1‑119 (MQ=255) aCTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctgggga > 2:340525‑M1/1‑110 (MQ=255) gtggCTTCCTGTTCAAAATGGACGGTCTGCCAGCTGCCGCAATTGCTATCTGTCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGTCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctggggatgcgtgac < 2:543046‑M1/149‑48 (MQ=255) gtggCTTCATGTGCAAACGGTACGGTCTGCCGGCTGCGGCAATTGGTATCTGGCACGCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctggggatgcgtgac < 2:215966‑M1/149‑48 (MQ=255) ttCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAACCACGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTtctc > 1:270187/1‑149 (MQ=255) aattGTACGGTCTGGCCGCTGCCGCAATTGCTATCTGGTACTCTGCTAAATCAGAAAACCGCGCGAAAGTGGGCTTTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCATCGAGCCGATCGAGTTCTCCTTCATGTTc < 2:181489/146‑1 (MQ=255) aaaTGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctggggatgcgtgacggtacgtcgttctcg < 1:227762‑M1/149‑63 (MQ=255) atttacgGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctggggatgcgtgacggtacgtcgttctcgca < 1:534073‑M1/146‑65 (MQ=255) tGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGGGTTCTCCTTCATGTTCGtt > 1:122215/1‑149 (MQ=255) aCGGCCAGCCAGTGGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctggggatgcgtgacggtacgtcgttctcgcacggt < 2:278789‑M1/149‑69 (MQ=255) aaTTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACGGGTGTCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCTCGGATGCTGTCCGTCATcc > 1:27517/1‑149 (MQ=255) tATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCACCGATCCTGTACATCATCCACGCGa > 1:556731/1‑149 (MQ=255) tATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCACGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCTCCGATCCTGTACATCATCCACGCGa > 2:550201/1‑149 (MQ=255) caccttgctaaACCAGAAAACCGCGCGAAAGTTGGCCGTATTATGATCTtggcacgcctggcattccccttccgtatcctccgggggatgcgtgacggtacgtcgttctcgcacggtctgatcgacttcatcgttctgtctggtaacag < 1:84758‑M1/144‑101 (MQ=255) aCTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCCGTACATCATCCTCGCGGTTCTCGCa > 2:510693/1‑149 (MQ=255) ctGCTAAACCAGAAACCCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGGCCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGc < 1:122565/149‑1 (MQ=255) ctGCTAAACCAGAAAACCGCCCGAAAGTGGGCGGTATTATGATCTtggcaggcctggcattcccaatctgtattcttctggggatgcgtgacggtacgtcgttctcgcacggtctgatcgacttcatcgttctgtctggtaacagcagc < 1:191358‑M1/149‑105 (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) tGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCCGTCTGGGTTCTTCTg > 1:231891/1‑149 (MQ=255) ggCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATGCGTATTCTTCTggg > 2:578656/1‑149 (MQ=255) ggTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGAt < 2:270187/149‑1 (MQ=255) gATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTAATCTGCTGGGGATGCGTGACg > 1:253535/1‑149 (MQ=255) | TTATATGGCGGGTGACCCGACTGCGGGTAAACTGTCTGGTGGCTTCCTGTTCAAAATGTACGGTCTGCCAGCTGCCGCAATTGCTATCTGGCACTCTGCTAAACCAGAAAACCGCGCGAAAGTGGGCGGTATTATGATCTCCGCGGCGCTGACCTCGTTCCTGACCGGTATCACCGAGCCGATCGAGTTCTCCTTCATGTTCGTTGCGCCGATCCTGTACATCATCCACGCGATTCTGGCAGGCCTGGCATTCCCAATCTGTATTCTTCTGGGGATGCGTGACG > NC_000913_3_hsa_tpiA/1158585‑1158868 |
Alignment Legend |
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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. |