| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | 100% | E112* (GAA→TAA) | yqaB ← | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,817,170 | 0 | C | A | 100.0% | 88.9 / ‑6.7 | 34 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (14/18); minor base G (1/0); total (15/19) | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCG > NC_000913_3_hsa_tpiA/2817029‑2817312 | gTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAACGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGCTGGCGCTTTACCTcccc > 2:474930/1‑149 (MQ=255) cccATATGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCTGGAGCGAGGATGGTGTTAATATAATGGCGCAATCCCTGGTGAGCCTGCAACTCCTCAGCGATGCCGCTTTAACTCCCCGTTCCttc > 2:357540/1‑147 (MQ=255) cccATACGCTGCGCGCCAAACAAAAATGTGTTTGGCGGGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTAc < 2:275642/149‑1 (MQ=255) cccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTAc < 2:111068/149‑1 (MQ=255) ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTGGACGTGATCGGCAGCGACGACGGCGTCAAAATACTGGCGTCATGCCAGGGCAGCCACCAATGCCCCACCGATGGCGCGTTGCCTCCCCGGTCCtcta > 2:141037/1‑146 (MQ=255) tACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGCTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTACCCGTTCCTACAGcc > 2:727751/1‑149 (MQ=255) agcggACAACAAAAATGGGCCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGc < 2:105801/148‑1 (MQ=255) caacaaAAATGGGTCTGGCGCGGGTTTATTGTGTTTGACGTGATCGGCACCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac < 1:418421/149‑1 (MQ=255) aTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCaa < 2:646307/149‑1 (MQ=255) tGGGGCGGTGTTATGGTGTGTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 2:318282/149‑1 (MQ=255) gcgcGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcacc > 2:433483/1‑149 (MQ=255) tgaTGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTCAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaac < 2:301446/147‑1 (MQ=255) tGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCACCGTTCCGACATCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAag > 1:21347/1‑149 (MQ=255) ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCTAAACAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga > 1:539508/1‑149 (MQ=255) gtgtTTGACGTGATCGGCAGCGACGACGGCGACAAAATAATGGCGTAATCCCAGGGTAGCCAGCAATGCCGCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAagag > 1:292792/1‑149 (MQ=255) tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGaa > 1:522856/1‑149 (MQ=255) ttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAg < 1:35969/149‑1 (MQ=255) gATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAAc > 2:537927/1‑117 (MQ=255) gATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAAc < 1:537927/117‑1 (MQ=255) gATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCg > 1:200701/1‑149 (MQ=255) gCGACGACGGAGTCAAAATACTGGCGTAATGCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCAGTTCGACGCTATc > 1:708987/1‑149 (MQ=255) gacgacGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCca < 2:701342/149‑1 (MQ=255) agggCGTAATCCCGGGTGCGCGAGCAATGCCTCAGCGATGGCGCTTTAACTCACCGTTCCTACCGCCATTGGGCGACGACAATGCCAAATTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTg < 2:182296/147‑1 (MQ=255) gggTAACCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCGACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCtt < 2:5923/147‑1 (MQ=255) tCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttt > 2:398697/1‑149 (MQ=255) ggaaTGTCTCAGCGGTGGAGCTGTAAGTCCGCGTTCCTAGAGCCATTGGGGGACGACGATGGCAACGTTTCACCACAGCAGCAAGAGGAAGCGGTTCGACGCGATCCAGCATCGTACTTCTTTCTTCTTCTGTTTTTTCACGCGCGAAc < 2:351904/147‑1 (MQ=255) gCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAAc < 1:605749/149‑1 (MQ=255) cTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATCCTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCg > 2:419694/1‑149 (MQ=255) gCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTc < 1:713024/149‑1 (MQ=255) ggtGGCGTCTTAACTCTCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCCCCACATCAACTAGAGGAAGCTGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCga < 2:240596/147‑1 (MQ=255) gATGTCGCTTTTACGCCCGGATGCGAACGCCATTGGACGACTACCATGCCAACTTTTCACCACATCAACAAGAGCGCGCGGTTCGACGCTATTCAGCAGCATGCTTCTTACTGCTTCGGTGTTTTCACGCGCTAACGCATGCGGGTCga < 2:109501/149‑1 (MQ=255) aTGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCTACGCTCTCCAGCAGAATACGTCTGACTTCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCgag > 1:57224/1‑149 (MQ=255) cgcTTTAACTCCCCGTTCCGAGCGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGGTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGTGCTAACGCAGGCGGGTCGAGATCg < 1:629437/149‑1 (MQ=255) cgcTTTAACTCCCCGGTCCGACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGGTGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTATCGCATGCGGGTCGAGATCg < 2:314753/149‑1 (MQ=255) | GTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCG > NC_000913_3_hsa_tpiA/2817029‑2817312 |
| 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: ‑ |