Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,604,698 | C→A | 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 | 97.0% | 95.0 / NA | 33 | A186E (GCA→GAA) | bglJ | bgl operon transcriptional activator |
Reads supporting (aligned to +/- strand): ref base C (1/0); new base A (17/15); total (18/15) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
ACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGG > NC_000913_3_hsa_tpiA/4604557‑4604834 | accgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATaaa > 1:504611/1‑149 (MQ=255) ccgacTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAAt > 2:78127/1‑149 (MQ=255) tCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGACCAAAAATTTAATGTGATGt > 2:266053/1‑149 (MQ=255) gTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCGTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGa > 1:326591/1‑149 (MQ=255) gTACATTAACCAAAGACGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTCCTCAATAACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAc < 2:219131/149‑1 (MQ=255) aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGACACTgcg > 1:549177/1‑147 (MQ=255) ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc < 1:194037/149‑1 (MQ=255) ttAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGc > 2:194037/1‑149 (MQ=255) aaGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGtt < 1:579627/149‑1 (MQ=255) cGGGCGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGATACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGCTCCGCGAACATAACTTTAATGTGATGCCGAAACTGGGCGTCAGTTCTGa < 2:446522/149‑1 (MQ=255) gACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACg > 2:4032/1‑149 (MQ=255) cccGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGGGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGggtgt > 2:586477/1‑149 (MQ=255) cgagaAATATTGCGCTTTATGTCGCGTGGCTAATCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGc < 2:145439/148‑1 (MQ=255) gaAATATTGCGCTTTATGTCGCGTGGCTCCTGTTTCAGACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCCGGGTTGTTGGAGGCTGCaag > 1:145439/1‑147 (MQ=255) gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATGTCAAAACGATCCGTGCACAGAGATTTAATGTGATGTCGAAACTGGGCGTCGGTTCTGGCGCAGGGCTGTTGGAGGCCGCAGATCGTCTGt > 2:60333/1‑149 (MQ=255) gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGt < 1:4032/149‑1 (MQ=255) ggCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTg < 1:289027/149‑1 (MQ=255) cTCAATGACACAAATTGCCGGGCAGCTTAAACGCAATATCAAAACGATCAGTGAGCCGTAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaaa < 1:586477/149‑1 (MQ=255) tCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTTAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGAACTTCTGTTATGTACTCGGCATTGCGaacc > 2:24075/1‑147 (MQ=255) aaTGACACAAATTGCCGATCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGc < 1:539378/142‑1 (MQ=255) aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGc > 2:539378/1‑142 (MQ=255) aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa < 1:78127/149‑1 (MQ=255) aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAAGTGGGCTTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTGATGTATGCGGCATTACGAAACAAGTAAtgtg > 2:288310/1‑149 (MQ=255) aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc < 1:231522/114‑1 (MQ=255) aaaTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTc > 2:231522/1‑114 (MQ=255) aTTGCCGAGCAGCTTAACCGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTTGGCGTCAGTTCTGACGCAGGATTGTCGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGtt < 1:255066/149‑1 (MQ=255) ttGCCGGGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACACAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTg < 2:568503/149‑1 (MQ=255) accagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATccc < 1:211123/147‑1 (MQ=255) gcagcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCAGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCt > 2:476501/1‑149 (MQ=255) ttAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTaa > 1:291384/1‑149 (MQ=255) ttAAACGCAATATCAAAACCATCCGTGAACATAACTTTAATGTGACGTCGACACCGGGCGCGACATCGGACGCAGGGTTGTTGGAGGCCGCAGCTATTCTGTTCTGTATGCGGCATTGCGAAACAAAGACTCAGTTGCATCACCATTaa > 2:547392/1‑149 (MQ=255) aaaCGGTCCGTGAACAGAAATTTAATGGGATGTCGGAACTGGGCGTCAGTTCTGGCGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg < 1:451590/149‑1 (MQ=255) aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg > 1:307735/1‑149 (MQ=255) | ACCGACTGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGG > NC_000913_3_hsa_tpiA/4604557‑4604834 |
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 < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |