Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 1,726,165 | A→G | 73.7% | Y48C (TAC→TGC) | nemR → | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
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 | 1,726,165 | 0 | A | G | 73.7% | 60.5 / 13.8 | 37 | Y48C (TAC→TGC) | nemR | transcriptional repressor for the nemRA‑gloA operon, quinone‑, glyoxal‑, and HOCl‑activated |
Reads supporting (aligned to +/- strand): ref base A (5/5); new base G (16/11); total (21/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 7.16e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
TGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACC > NC_000913_3_hsa_tpiA/1726024‑1726308 | tGAATAAACACACCGAACATGATACTCGCGAACATATCCTGGCGACGGGCGAACAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTACCGAAAGGGTCCTTCTATCACTGCTTTCGc > 1:52955/1‑149 (MQ=255) gAACAACCACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAGGCGAATTACTAAAACCCGCTGAAGTGCCAAAAGGGCCCTTCACTAACTAGTTTCGct > 2:618471/1‑149 (MQ=255) acaaacaCACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGctct > 1:145118/1‑149 (MQ=255) acacacCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCGACGATGACTGAAACGGGGATGCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAaag > 1:338129/1‑149 (MQ=255) aggATACCCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGc < 2:467393/147‑1 (MQ=255) aTGATAGTCGCGAACATCTCCTGGGGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGc < 2:609427/149‑1 (MQ=255) aCTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGc < 2:381641/149‑1 (MQ=255) aaCATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCtt < 1:112541/149‑1 (MQ=255) tctcCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGc < 1:375178/149‑1 (MQ=255) ggCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGATCTAAAGAAGCGTTTGGCTTTGCCATGCTTGAGCGTCAtt < 2:465784/149‑1 (MQ=255) gACGGCCGAGAAACCTTACCGGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCTTTGCCATGCTTGCGCGTCATTCcg > 2:604638/1‑149 (MQ=255) aCTTTGCCTGCAACGTGGATTCCCCGGGATGGGGCTAAGCGCCATACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCAcc < 1:365019/149‑1 (MQ=255) cTTTGCCTGCAGCGTGGATTCACCGGGATGGGGCTAAGCGAATGACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACGGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCa < 2:276958/149‑1 (MQ=255) gCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCga < 1:598952/149‑1 (MQ=255) tGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCGTTACGCCGCATATCACCAGCgactg > 2:413366/1‑149 (MQ=255) cGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTTCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGActgactga < 2:548670/149‑1 (MQ=255) cGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGActgactga < 1:368601/149‑1 (MQ=255) aCCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCa > 1:14791/1‑149 (MQ=255) cGGGATGGGGCTACACGAACTACTACGAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCATCAGCTACTGACCGAGGGGCTGCAAt < 2:491970/149‑1 (MQ=255) gATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCg < 1:517837/149‑1 (MQ=255) gCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGACCGTCATTACGCCGCATATCACCAGCGACTGACCGAGTTGCTGCAATCCGGCGacg > 2:89033/1‑147 (MQ=255) caGCGAATTACTAAAAACCGCTGAAGTGCCGCAAGGGTCCTACTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTAATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCCATCCGGCGAAGGTa > 2:528055/2‑149 (MQ=255) aaTTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTAc > 1:632488/1‑149 (MQ=255) aTTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCGAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCACCGACGGCCTGAGTTGCTGCAATCCTACGAACGTCACTAcc > 2:31881/1‑149 (MQ=255) tAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGAc > 1:27500/1‑149 (MQ=255) aaaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGc > 2:139497/1‑149 (MQ=255) aaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGCCTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCCACCGCa > 2:632397/1‑149 (MQ=255) aaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCa > 1:529537/1‑149 (MQ=255) aaCCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTGCTTTCGCCCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGCCCGCa > 1:314021/1‑149 (MQ=255) aaCCGCTGAAGTGCCGAAAGGGTCCATCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATCCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCACTCCGGCGCAGGTAACTACCGCGACCGcc > 1:528934/1‑148 (MQ=255) gacttGCCGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGAAAATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGc < 1:310267/145‑1 (MQ=255) gTGCCGAAAGGGGCCTTCCATCACTACTTTCGCGCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCCGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCtta < 1:7934/149‑1 (MQ=255) ccGAAAGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCttatta < 1:385135/149‑1 (MQ=255) gAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATAATGGCATATTAca > 2:32792/1‑148 (MQ=255) aaaGGGTCCTTCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCACATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCa > 1:301205/1‑149 (MQ=255) ttCTATCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAACCACt > 2:398365/1‑149 (MQ=255) tCACTGCTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGCCCGCATACTGGCTTATTACCAGCCAACACTTAAcc > 2:203179/1‑149 (MQ=255) | TGAACAAACACACCGAACATGATACTCGCGAACATCTCCTGGCGACGGGCGAGCAACTTTGCCTGCAACGTGGATTCACCGGGATGGGGCTAAGCGAATTACTAAAAACCGCTGAAGTGCCGAAAGGGTCCTTCTATCACTACTTTCGCTCTAAAGAAGCGTTTGGCGTTGCCATGCTTGAGCGTCATTACGCCGCATATCACCAGCGACTGACTGAGTTGCTGCAATCCGGCGAAGGTAACTACCGCGACCGCATACTGGCTTATTACCAGCAAACACTGAACC > NC_000913_3_hsa_tpiA/1726024‑1726308 |
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: ‑ |