| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,296,042 | 0 | C | T | 25.0% | 78.6 / 26.8 | 57 | intergenic (+266/+376) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base C (19/23); new base T (9/5); total (29/28) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.55e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.88e-01 | |||||||||||
| Rejected as consensus: Frequency below/above cutoff threshold. | |||||||||||
GATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGC > NC_000913_3_hsa_tpiA/4295898‑4296176 | gATAAGGCGTTTAGGCCGCAGCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTTCG‑TGTGGCGTTTTACGCCGCATCCGACATCAATGCCt < 2:655305/149‑1 (MQ=11)gATAAGGCGTTTACGCCGGATACGGCATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCt < 2:390037/149‑1 (MQ=255) aaGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGAt < 2:185912/149‑1 (MQ=17) ggCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGc > 1:124655/1‑149 (MQ=32) cttaaaTGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGa > 2:592747/6‑149 (MQ=12) atcccccATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCtt < 1:564796/143‑1 (MQ=17) gactgCATCCGACATGAATGCGTGATGCGCCTCTTAACGCGTCTTATCAGGCACACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGGCGTACAAGGGG‑TTTCCGCCGCATACTACATCAATGCCTGATGCGACGCTTg < 2:526948/145‑1 (MQ=11) gCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGc > 1:247790/1‑149 (MQ=21) cGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGAc < 2:382994/141‑1 (MQ=17) cGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGAc > 1:382994/1‑141 (MQ=32) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGGAATAGCCCGATCTAGCGTGATTTTAGAGGTCGGATAAGGCG‑GTTACGCAGCATACGACTCCAATGCCTTATGCGACGCttcgcgcct > 2:60670/1‑142 (MQ=11) aTCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGt > 1:284560/1‑149 (MQ=25) tCCGACATCAACGCCTGATGTGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTAATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc < 2:534912/149‑1 (MQ=255) tCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCATGATTTAGCGTGATTTTGTAGGACGGATAAGGCG‑TTTACGCCGCGTCCGACATCAATGCCGGATGCGGCGCTTGCCGCGTc > 1:33478/1‑149 (MQ=11) gtcGACATCAACGCCTGATGCGACGCTTACCGCGTCTTATCAGGATTACGCCAGACACCGCGATAGCCTGACTTAGCGTAATTTTGTTGGTCGGATAAGGCC‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc < 2:261296/147‑1 (MQ=11) gACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAAc > 1:261879/1‑122 (MQ=32) gACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCTGCGTCTTa > 2:438283/1‑149 (MQ=21) aCATCAACGCCTGTTGCTACGCTTATCGCGTCTTATCAGGCCTATGCCAGATAGAGCAATAGCCTGCTTTAGCGTGATATAGTAGGTACAATACTGCG‑TCTCTGCCCCACCCGATATCGACGCCTGATGCGACGCTTGCCGCGTCTTA‑t < 2:291323/149‑1 (MQ=2) aTCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTA‑TCa > 1:235451/1‑149 (MQ=21) aTCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCa > 2:354044/1‑149 (MQ=38) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGAt > 1:33254/1‑123 (MQ=32) aCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGcc > 2:156822/1‑149 (MQ=37) cTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTatc > 2:550245/1‑147 (MQ=17) gACGCTTAACCCGTCTCATCAGGCCTACGCGAGAGAGCGCGTTAGCCTGATGTAGCGGGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGTATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACa < 2:247961/149‑1 (MQ=11) cTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAgcgc < 1:412154/149‑1 (MQ=39) cgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGt < 2:41416/118‑1 (MQ=37) cgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGGCGGATAAGGCG‑TTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGt > 1:41416/1‑118 (MQ=255) gcgTCTTATCAGGCCTACGCCAGAGGGCGCAATGGCCTGATTTAGGGTGATTTTGTAGGGCGGATAAGGCG‑TTTACGCCGCACCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGc < 2:81509/149‑1 (MQ=11) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGAGATTTTGTAAGTCCGATAAGGCG‑CTTACGCGGCATCCGACATCAAAGCCTGATGCGACACTTGCCGCGTCTTA‑TCAGGCCTACGTCAATCATCGCAAAAGCCTGAttt > 2:156048/1‑149 (MQ=11) tCAGGCCTACGCCAGACAGCGCGATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTa < 1:429348/149‑1 (MQ=255) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGGCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTACACAAGCGT‑TTTGAGACAGCGCAATAGCCTGATTTAGc < 2:488279/149‑1 (MQ=11) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACTCTTGCCGCGTCCTA‑TCAGGCCAACGCCAGACAGCGCCATAGCCTGCTTGAGCg > 2:670663/1‑149 (MQ=11) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCg > 1:360735/1‑149 (MQ=39) ccAGACCGCGAAATGGCCTGATTCAGAGTTAATTTGTGGGGCGGGTCAGGGG‑TTTACGCCGCGTCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTg < 2:217795/149‑1 (MQ=11) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGt < 2:360735/149‑1 (MQ=38) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTc > 2:360321/1‑149 (MQ=38) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATaa < 1:308267/149‑1 (MQ=38) tAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTATGTCGGATaaa > 2:563858/1‑148 (MQ=38) aGCCTGATGTAGCGTGATTTTGTAGGTTGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGGTGTGGTAGGCCGGATAAgg < 2:490528/149‑1 (MQ=11) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑Tc > 2:261472/1‑88 (MQ=18) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑Tc < 1:261472/88‑1 (MQ=255) cTGATTTCGCGTGAATCGGTGGGGCGGACGAGGCG‑TTTACGCCGCATCCGGCATGAACGCCTGATGCGACGCTTGCCGCGTCGTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGt < 1:372712/149‑1 (MQ=11) aTTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTc > 2:443995/1‑135 (MQ=17) aTTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTc < 1:443995/135‑1 (MQ=40) tttGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGc < 1:555329/76‑1 (MQ=255) tttGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGc > 2:555329/1‑76 (MQ=255) gTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGCCGGATCGGGCGATAATCCCGCATCCAACAt > 1:154176/1‑149 (MQ=11) aGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATAAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCCATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATCAGGCGTTTACGCCGCATCCGACATcc > 1:63016/1‑148 (MQ=255) ggTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAACGCGTTTATGCCGCATCCCACCTCaa > 2:187076/1‑149 (MQ=255) gTCGGATAAGGCG‑TTTACGGCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGCTTTCGCGTGATTTTGTAGGTCGGATAAGGCGTTTCTGCCCCATCCGACATCCAc > 2:572014/1‑149 (MQ=11) tAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGa > 1:185912/1‑149 (MQ=38) agccG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTAGGTGCAATCTGGTATGCCGCATCCGACATCAACGCCTGATg < 1:670663/146‑1 (MQ=11) ggCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc > 2:230827/1‑51 (MQ=255) ggCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTc < 1:230827/51‑1 (MQ=255) gccgcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGAt > 2:279374/1‑88 (MQ=40) gccgcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGAt < 1:279374/88‑1 (MQ=40) cgcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCGGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGc < 1:606486/105‑1 (MQ=38) gcATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAAcgc < 1:156822/149‑1 (MQ=35) | GATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCG‑TTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTA‑TCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGC > NC_000913_3_hsa_tpiA/4295898‑4296176 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |