| 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% | 96.8 / NA | 33 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (12/21); total (12/21) | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCC > NC_000913_3_hsa_tpiA/2817026‑2817315 | tCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGACAGAAATGCCTCCGGGATGCCGCTTTAACTc > 2:349735/1‑149 (MQ=255) gTTGCACGCCCATCCGCCGCGCGCAAAACAAAAATGTGTCTGGCGCGGGTTTATGGTGGTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcccc < 1:231650/149‑1 (MQ=255) gTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcccc < 1:629451/149‑1 (MQ=255) gCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa < 1:226341/149‑1 (MQ=255) ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa < 1:378128/149‑1 (MQ=255) ccATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTGTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAACATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCACCGATGGCGCTTTAACTCGCCGTTCCTACa > 2:445057/1‑149 (MQ=255) gcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCAAGGTGTGCCTGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgac > 1:647786/1‑149 (MQ=255) gcACAACAAAAATGTGTCTGGCGCGGGGTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgac < 1:630445/149‑1 (MQ=255) acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga < 1:559929/149‑1 (MQ=255) aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc > 1:443594/1‑149 (MQ=255) aaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGGTCGGCAGCGA‑CGACGGCGGCAAAATAATGGCGTAATCCCAGGTGCGCCAGTAATGCCTCAGCGAGGGCGCTTTAACTCCCCGTTCCTACAGCCATTGTGGGACTCGCATGcc > 2:221044/1‑149 (MQ=255) tttATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATcaa < 1:535108/149‑1 (MQ=255) gcggTGATCGGCAGGGAGCGA‑GGCGTCAAAAGAAGGGCTTAATCCCAGGTGAGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCg < 2:87229/146‑1 (MQ=255) aCGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCgg < 2:149938/149‑1 (MQ=255) aCGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCCTCATCCCGGTTTCACCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACATCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCgg < 1:122497/149‑1 (MQ=255) gTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAAGCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACCCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGtt < 2:461863/149‑1 (MQ=255) ttaTCAGCAGTGG‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCTCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACTTCAACAAGAGGAAGCGGTTc < 2:247958/147‑1 (MQ=255) aTCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGa < 1:265117/149‑1 (MQ=255) cAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTa < 1:494695/149‑1 (MQ=255) tacgGCGTCAAAATAATTGTGTTATTCTAGGTGTGTCAGTATTGCTTCAGCGATGGCTTTTTATCTTTCCGTTCTTTCAGTCATTGGGCGACGACCATTTCAACTTTTCACCTCATTAATAATAGTAAGCGGTTCGACGCTATCcagca < 2:265461/148‑1 (MQ=255) gacgGCGTCAAAATAATGGCGTACTCCCAGGTGCGCCGGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCCTGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 2:143490/149‑1 (MQ=255) ggCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCCCCACACCAACCACAGCAAGCGATTCGACCCTATCCAgcacca > 2:306838/1‑149 (MQ=255) gCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCAt > 1:599998/1‑149 (MQ=255) aataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtctt < 1:188225/149‑1 (MQ=255) ataatGGCGCAATCCCAGGTGCGCCAGCAATGCCTCAGGGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa < 2:576262/149‑1 (MQ=255) taatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTAc > 1:207850/1‑149 (MQ=255) aatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTCTCCAGCAGCATACTTCTTACt > 1:396275/1‑149 (MQ=255) gCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGGCATTGCGCGGCGGACATGCCAACTTTTCACCACATCAGCAAGACGAAGCGTTTCGAGACTATCCACCACCAGGCTTCTTACTGCtt > 2:452030/1‑149 (MQ=255) ccAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttat < 2:611047/149‑3 (MQ=255) cgcCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCAcgcg > 2:1310/1‑149 (MQ=255) tCAGCGGTGGCGCTTGAATCCCCCGTTCTTAGAGCCATTGGGCTACGACCATGCCAACTTTTCACCACATCGACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTGACTGCTTCTGTTTTTTCACGCGCTAACGCATGCgg < 2:457228/149‑1 (MQ=255) tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTACCGCATGCgg > 2:281729/1‑149 (MQ=255) tttAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGcc < 1:566085/149‑1 (MQ=255) | TCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGA‑CGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGCC > NC_000913_3_hsa_tpiA/2817026‑2817315 |
| 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: ‑ |