Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_pgi | 1,311,346 | G→A | 8.8% | P86P (CCG→CCA) | tonB → | membrane spanning protein in TonB‑ExbB‑ExbD transport complex |
Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 1,311,346 | 0 | G | A | 8.8% | 107.4 / 3.6 | 46 | P86P (CCG→CCA) | tonB | membrane spanning protein in TonB‑ExbB‑ExbD transport complex |
Reads supporting (aligned to +/- strand): ref base G (21/21); new base A (2/2); total (23/23) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 3.94e-01 |
AACTACCTGCGCCTGCGCAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATACGGCACCGGCACGCCTGA > NC_000913_3_hsa_pgi/1311198‑1311488 | aaCTACCTGCGCCTGCGCAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACAGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCg > 2:804447/1‑149 (MQ=255) cTACTTGCGCCTGCGCCGCCTATTTCTGTCAAGGTGGTTACGCCTGCTGTTCTCGAACCGCCACACGCCGTTCAGCCGCCCCCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCggt < 2:17916/149‑1 (MQ=255) tACCTGCGCCCGCGCAGCCGATTTCTTTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCggtg < 1:669631/149‑1 (MQ=255) cccgagcctccggAGCCGATTGGTGGCATGATGGTCACGGCTGCGGATCGCGAAGGTCCAAAAGCCTTACAGCCGCCACCGGAGCCGGGGGCAGAGCCAGCACCGGAACCTGAGCCGAGCCCCGAACCGCCAAAAGAAGCACCggtggt < 2:943911/144‑1 (MQ=255) ggcgcctgcgcAGCCGTTTTCTGTCACGATGGTTACGCCGGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCGAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCa < 1:196606/148‑1 (MQ=255) gcctgcgcAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCAACGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTg > 1:169514/1‑149 (MQ=255) cgaGCCGATTTCTTTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAaagc < 1:313091/147‑1 (MQ=255) ggtttCTGGCACGATGGTTCCGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAaagccgaagc < 2:522155/147‑1 (MQ=255) cTGCCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTTGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGaaa < 1:926421/149‑1 (MQ=255) tCACGATGGTTACGCCTGCTGATCTCGAACAGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAGCCGGAACCTAAACCTATCACCGGACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAACCCt > 2:239268/1‑149 (MQ=255) aCGATGGTTCCGCCTGCTGTTTTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTaa < 1:641596/149‑1 (MQ=255) aCGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTaa > 2:750465/1‑149 (MQ=255) aCGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTaa > 1:996962/1‑149 (MQ=255) tgctgATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAAACGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCGCAAACCTAGGCGAGAACCGaaac > 2:536696/1‑147 (MQ=255) tgctctcGACCCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAGCCGAAGCCgg < 2:930665/146‑1 (MQ=255) aTCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGCACCTGAGCCGTTCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAACGACGAAGCCGAAACCTAAGCGAAAACAGAAGccaggg > 1:74435/1‑145 (MQ=255) aTCTCGAACCGCCACAAGCCGTTCAGCCGCCACCAGCGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGAGGCCATTGAAAACCCGAAGCCGAAACCTAAACCAAAACCGAAACCGGTg > 2:816468/1‑149 (MQ=255) aTCTCGAACCGCCACAAGCCGGGCAGCCGCCACCGGAGCCGGTGGGAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATGGAAAAGCCGAAGCCGAAACGTAAACCAAAACCGAAGCCgggg > 2:774424/1‑147 (MQ=255) ctcGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAAAAGCACCGAGGGTCCTTGAAAAACCGGAGCCGAAACCTAAGCCACAACCCAAGCCGGTgca > 2:27259/1‑147 (MQ=255) gAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAAAACCGGAACCTGAGCCGCTCCCCGAACCGCCAAAAGAAGCACAGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGgaaaa > 1:415351/1‑149 (MQ=255) aaCCGTCACAAGCCCTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCAAAAAGAAGCATCGGTGGTCATTGATAAGCCGAAGCCGTAACCTAAGCCAAAACCGAAGCCGGTGAAAAAg < 1:793917/149‑1 (MQ=255) aacgaggcGTGCAGTCGCCACCGGAGGCGGTGGTCGAGCCAGAACGGGAATCGGGGCCGAGCCCCGAACCGCCAAAAGGAGCACCGGTGGTCATGGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAGGTCGGTGAAAAAGGTACAg < 2:625682/142‑1 (MQ=255) gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc < 2:90296/97‑1 (MQ=255) gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc > 1:90296/1‑97 (MQ=255) gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc > 1:93991/1‑97 (MQ=255) gCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCAGTGGTCATTGAAaagc < 2:93991/97‑1 (MQ=255) cGTGCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGagcagc < 1:838065/149‑1 (MQ=255) ccACCGGAGCCGGTGGTAGAGCCAGAACGCGAAACTGAGCCGATCCCCGAACCCCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGTTGAAAAAGGTACAGGAGCAGCCAAAACGCGa < 2:323634/149‑1 (MQ=255) ccACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAACAGGTACAGGAGCAGCCAAAACGCGa > 2:722401/1‑149 (MQ=255) aCCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAACAAGGCACAGGAGCAGCCAAAACACGATg > 1:434536/1‑149 (MQ=255) gCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAAc < 1:750465/149‑1 (MQ=255) cGGTGTGAGACCCAGACCCACACCCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTGAGCGAAGTCCTAAGCCGGTGAAAAAGGTACTGGAGCAGCCAAAACGCGATGTCAAAccc < 1:447484/149‑1 (MQ=255) ggtggtAGAGCCAGAACCGGAACTTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCg < 1:566995/149‑1 (MQ=255) gtggtAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGACAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGt > 2:588642/1‑149 (MQ=255) gtacggCCAGAAGCGGCACCTGAGCAGATCCGCAAACCGCCAAAAGAAGCACCGGCGGTCATTGAAATGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTaga < 2:700076/144‑1 (MQ=255) agagCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGt < 1:79753/149‑1 (MQ=255) gatccAGAACCTGAACCTGAGCCGAGCCCCGCACCGCCAAAAGATGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCTGTGAAAAAGGTACAGTAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTc < 1:609073/146‑1 (MQ=255) gagaCAAAACCGGACCCTGGGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAATCCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTc < 1:341780/149‑1 (MQ=255) gCCAGAATCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTcgc < 1:619401/149‑1 (MQ=255) aaCCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCAAAAACGCGATGTCAAAACAGTGGAGTCGCGTCCg > 2:395547/1‑149 (MQ=255) ccGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGCTGCCAAACCCGTAGAGTCGCGTCCGGc > 2:400495/1‑149 (MQ=255) ccGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGc < 1:804447/149‑1 (MQ=255) tGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGt < 1:633097/149‑1 (MQ=255) attcccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACGGAAGCCGGTGAAAACGGTACAGGAGCACACAAAACGCGAGGCCAAACCCGTAGAGTCGCGTCCGCCGTCACCGTTTTaaaa > 2:175961/4‑149 (MQ=255) cccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCCAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAc > 1:810767/1‑149 (MQ=255) cccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAc > 2:420318/1‑149 (MQ=255) ccGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAcg > 1:966590/1‑149 (MQ=255) cAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATAcggcaccggca > 1:15290/1‑149 (MQ=255) aaaGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGGTTGAAAATACGGCACCGGcgcg > 2:21413/1‑149 (MQ=255) cgCACCGGTGGTCATTGAGAAGCCGACGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATACGGCACCGGCACGCCCGa < 2:14571/148‑1 (MQ=255) | AACTACCTGCGCCTGCGCAGCCGATTTCTGTCACGATGGTTACGCCTGCTGATCTCGAACCGCCACAAGCCGTTCAGCCGCCACCGGAGCCGGTGGTAGAGCCAGAACCGGAACCTGAGCCGATCCCCGAACCGCCAAAAGAAGCACCGGTGGTCATTGAAAAGCCGAAGCCGAAACCTAAGCCAAAACCGAAGCCGGTGAAAAAGGTACAGGAGCAGCCAAAACGCGATGTCAAACCCGTAGAGTCGCGTCCGGCATCACCGTTTGAAAATACGGCACCGGCACGCCTGA > NC_000913_3_hsa_pgi/1311198‑1311488 |
Alignment Legend |
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Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |