Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,604,698 | C→A | 100% | A186E (GCA→GAA) | bglJ → | bgl operon transcriptional activator |
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 | 4,604,698 | 0 | C | A | 100.0% | 130.7 / NA | 43 | A186E (GCA→GAA) | bglJ | bgl operon transcriptional activator |
Reads supporting (aligned to +/- strand): ref base C (0/0); new base A (17/26); total (17/26) | |||||||||||
Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
Rejected as polymorphism: Variant not supported by required number of reads on each strand. |
GACCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGA > NC_000913_3_hsa_tpiA/4604552‑4604828 | gaccgaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCACGACGGAGAGAAAAATATTGCGCTTTATGTCGCGTGCCTAATCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATGCGTGaac > 2:222193/1‑149 (MQ=255) accgaccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTCCTAAATGAACCAACTTGCCGAGCATCCTAAACGCAATGTCAAACCGATCCGTGaaca > 2:73470/1‑149 (MQ=255) cTGCACAATCAGTGGTACATTACCCAAAGCCGGCCGTCAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTaa < 1:184062/149‑1 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt < 1:474769/149‑1 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTAAAGTCGCGTGGCTACTCAATGGCACAAATTGCCGAGCCGCTTGAACGCAATATCAAAACGATCCGTGAACATAGATTTAAtgt > 1:97284/1‑149 (MQ=255) tGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTCCTCAATGACACAAATTGCCGAGCAGCTTAAACGCCATATCACACCGATCCGTGAACATAAATTTAATGTGATTTCGaa > 2:117203/1‑149 (MQ=255) ggTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGGCGATGATCTTAACCGCTATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGaaa < 1:274502/149‑1 (MQ=255) ggTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGaaa < 1:173290/149‑1 (MQ=255) ggTACATATACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAAGGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGaaa < 2:598459/149‑1 (MQ=255) ggTAAATTAACCAAAGCCGGACGTGAGGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAACGACAACAATAGCCGAGCAGCTTAATGGCAATATAATAACGATCCGTGAACATATATTTAATGTGATGTCGaaa < 2:687524/149‑1 (MQ=255) aCATTAACCAAAGCCGGACGTTACGCCAGACCGGGATACAGATATTGCGCTTTATGTCGCGTGGGTACTCAATGACACCAATTGCCGAGCACCTTAAACGAAGTATCAAAACGGTCCGTGAACGGAAATTTAATGTGACTTCGAAACTg > 1:341384/1‑149 (MQ=255) ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc < 1:434041/149‑1 (MQ=255) tAACCAAAGACGGACGTTAAGCCCGAAGAAAAGAGAAATATTGCGCTTTATGTTGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGTAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCg < 1:596805/149‑1 (MQ=255) ccgaaGCCGTGCGTTAAGGCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCa < 2:272641/146‑1 (MQ=255) ccAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATATCGCGTGGCTACTCGATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCa > 1:613258/1‑149 (MQ=255) ggACTTAAACCCCGACGGAGAGAGAAATATTGGGCTTTATGTCGCGTAGCAACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGCCGAAACTGGGCGTCAGTTCTGAc < 2:514313/149‑1 (MQ=255) gACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACAATCCGTGAACATAAAATTAATGTGATGTCGAAACTGGGCATCAGTACTGAcc > 2:233757/1‑148 (MQ=255) gTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAg < 1:472028/149‑1 (MQ=255) aGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAACCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgtt < 1:369574/149‑1 (MQ=255) gCCCGACGGAGAGAGAAATATTGCGCTTTATATAGTGTCAGCACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttg > 1:340309/1‑149 (MQ=255) cGGAGAGAGAAATATTGCGCGTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAg < 2:96654/149‑1 (MQ=255) gaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGa < 2:412857/149‑1 (MQ=255) gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGt > 1:76770/1‑149 (MQ=255) gcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta < 1:54916/149‑1 (MQ=255) ttATGGCGCGTGGCTACTCAATGGCACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTtatgt < 1:285079/149‑1 (MQ=255) cTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCg > 1:65529/1‑149 (MQ=255) ctgaaTGACACAAAGTGCGGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaaa < 1:222507/146‑1 (MQ=255) tCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTGTGTATTCGTCATTGCGAAAc > 2:455998/1‑149 (MQ=255) aTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta < 1:658179/126‑1 (MQ=255) aTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta > 2:658155/1‑126 (MQ=255) aTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTta < 1:658155/126‑1 (MQ=255) aTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGAGTTGTTGGAGGCCGCAGATATTCTGTta > 2:658179/1‑126 (MQ=255) tGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACACGt > 1:249954/1‑149 (MQ=255) aaaTTGCGGAGTAGCTTAAACGGAATATCAAATCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGTGTTGTTGGAGGCCGCAGATATTCTGTTGTGTATGCGGCATTGCGAAACAAGTAAtgtg < 1:689713/149‑1 (MQ=255) aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtgtg > 1:597568/1‑149 (MQ=255) aaatGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACAGAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATgtgt < 1:316890/146‑1 (MQ=255) gCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCa < 2:468763/149‑1 (MQ=255) gggcaggTTAAACTCAATATCAAAACTATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTTTTACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATcc < 2:273403/147‑1 (MQ=255) gAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATcc < 2:534584/149‑1 (MQ=255) cTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTa > 2:95538/1‑149 (MQ=255) tAAACGCAATATCGAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt > 2:151939/1‑149 (MQ=255) gCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCa < 1:357016/149‑1 (MQ=255) aaTATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCatg > 1:204712/1‑149 (MQ=255) aaTATCAAAACGATCCGTGAACATAAATTTAATGTGATGTAGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGACCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTACTGTGTTGCATCCCTATTAATCCGCatg > 2:160635/1‑149 (MQ=255) atagCAAAACTATCCGTGAACATAAATTTAATGAAATGAGTAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCatga < 1:129908/149‑1 (MQ=255) | GACCGACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGA > NC_000913_3_hsa_tpiA/4604552‑4604828 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |