Predicted mutation | |||||||
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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... | |||||||||||
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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% | 104.7 / NA | 37 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (18/19); total (18/19) | |||||||||||
Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
Rejected as polymorphism: Variant not supported by required number of reads on each strand. |
GTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCC > NC_000913_3_hsa_tpiA/2817029‑2817315 | gTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGATTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTTCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcccc > 2:298273/1‑149 (MQ=255) ttGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGCACTGATGGTGATTGAAGTGATCGGCCGCGACGACGGCGGCCAAATACTCGAGTAATCCCAGCTGCGCCGGCAATGACTCAACGATGGCACTATAAGTCCCCg > 2:565502/1‑149 (MQ=255) ccATACGCTGCGCGCACAACAAAAATGTGTCTGGAGCGGGTTTATGGTGTTTGACGTGATCCGCAGCGCCGCCGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa > 2:252841/1‑149 (MQ=255) ccATACGCTGCGCGAACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGATTGACGTGAACGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTTGGCAAGCAATGCCTCAGCGCTGGCGCTTTAACTCCCCGATCCTAct > 2:10182/1‑148 (MQ=255) agaCGCCGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGc < 1:78221/147‑1 (MQ=255) caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt > 1:78092/1‑149 (MQ=255) caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt < 1:370314/149‑1 (MQ=255) caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAACGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt < 2:531348/149‑1 (MQ=255) aTGTGGCGGGCGCCGGTTTATGGTGTTTGACGTCATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCaa < 1:151234/149‑1 (MQ=255) tCTGGCGGGGGTTTATGGGGTTTGGCGCGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACtttt < 2:504779/149‑1 (MQ=255) gcgGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcaccac < 1:527521/149‑1 (MQ=255) tGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTGAAACGCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAag > 1:295846/1‑149 (MQ=255) ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga < 1:460828/149‑1 (MQ=255) ctGACGTGATCGGCAGCGACGACGGGCTCAAAATAATGGCGTACTCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTCAACTCCCCGTTCCTACAGCCATTGGGCGACGCCCAAGCAAACTTTTCACCCCATTAACAAGAGGAAg < 2:610583/148‑1 (MQ=255) aCGTGATCGTCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCgg < 2:113903/149‑1 (MQ=255) tGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCACTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACCTCAACAAGAGGAAGCGGTTc > 1:392560/1‑149 (MQ=255) tCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGAc < 1:240394/149‑1 (MQ=255) gCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATACCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATCCCACGTTTACCCCACATCACCAAGAGGAACCGGATCGACGCt > 1:92731/1‑149 (MQ=255) cgacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagc < 2:79969/149‑1 (MQ=255) ccgGCGTCAAAATAATGGCGTAACACCAGGTGCCCCAGCAATGCCTCAGCGATGGCGCTTTACCTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGTAAGCGGTTCGACGCTATCcagcag < 2:431769/148‑1 (MQ=255) aaaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACGTCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATCcttc > 2:196977/1‑149 (MQ=255) taatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAAAGGAGGCGGTTCGGCGCTATCCAGCAGCATACTTCTTAc > 1:415282/1‑149 (MQ=255) atGGAGTAATCCCAGGTGCGCCAGCAATACCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGGCGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACGTCTTACTg > 2:468657/1‑149 (MQ=255) tGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGc > 2:586708/1‑149 (MQ=255) cGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTc < 1:70046/149‑1 (MQ=255) cGTAATCCCAGGTGCGCCAGCAATGACTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTc > 1:237576/1‑149 (MQ=255) actCCCAGGTGCGCTAGCAATGCCTCAGCCGTGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGt < 2:76599/147‑1 (MQ=255) aTCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGAAAGCTGTTAGACGGTATCCAGCAGCATACTTCTTACTGCTTCTGtt > 1:321656/1‑149 (MQ=255) cccAGGTGCGCCAGCAATGCCCCGGCGATTGCGCTTTAACTCCCCGTTCCTACAGCCATTGGACGAAGACCATGCCAACTTTTCACCACAAAAACCAGAGGCAGCGGATCCATGCTATCCCACAGCCTACTACTCACTACTACTGtttt > 2:230/1‑149 (MQ=255) cccAGGGGCGCCAGCAATGCCTCCGCGATGGCGCTTTACCTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttt < 2:534570/149‑1 (MQ=255) tGCGCCAGCAATGGCTCAGCCATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGTAGCATAGTGCTTACTGCTTCTGTTTTTTCAcg < 1:301110/149‑1 (MQ=255) cAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTa > 1:395041/1‑149 (MQ=255) aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGACGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTaa > 1:505322/1‑149 (MQ=255) tGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCAt > 1:599880/1‑149 (MQ=255) gCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAACCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTc < 1:467412/149‑1 (MQ=255) cgcTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCg < 2:426878/149‑1 (MQ=255) tttAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGcc < 1:502825/149‑1 (MQ=255) | GTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCC > NC_000913_3_hsa_tpiA/2817029‑2817315 |
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: ‑ |