Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | E112* (GAA→TAA) | yqaB ← | fructose‑1‑P and 6‑phosphogluconate phosphatase |
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 | 2,817,170 | 0 | C | A | 96.8% | 83.9 / NA | 32 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
Reads supporting (aligned to +/- strand): ref base C (1/0); new base A (14/16); total (16/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.84e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
CGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGAT > NC_000913_3_hsa_tpiA/2817024‑2817310 | cGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAAc < 1:282568/149‑1 (MQ=255) gTCGGTTGCACGCCCATACGCTGCACGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATACTGGCGTAATCCCAGGTGCGCCCGCAATGCCTCAGCGATGCCGCTCTCACt > 2:113512/1‑149 (MQ=255) cACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTc > 2:364507/1‑149 (MQ=255) aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCATAATCCCAGGAGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTccc > 2:411659/1‑149 (MQ=255) aggtcATACCCTGCGCCAACACCAAAAGTGTGTCTGGCGAGGGCTTATGGTGTTTGACGTGATAGGCAGCGACGACCGCGTCAACATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCt < 1:257875/145‑1 (MQ=255) ccATACGCTGCGCGCACAACAAAAATGTGTCCGGCGGGGGATTGTGGTGTTTAACGTGATCAGCACAGACGACGGCGGCAAATTAATAGCGAAACCCCCGGCGAGTCAGCAATGCCTGGGCGCTGGCGCTTTAACTCCCCGTTCCTACa > 2:183/1‑149 (MQ=255) cATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAg > 1:84292/1‑149 (MQ=255) aCGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGAGCGGCAGCGACGACGGCGTCAAAGTAATGGCGTAATCCCAGATGCGCCAGCAATGCATCAGCGATGGCGATTTAACTCCCCGTTCCTACAGCCa > 1:527071/1‑149 (MQ=255) ggtGCGCGCACAACAAAAATGTGTCTGGCGTGGGTTTACTGTGTTTGACGTGAGCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCTCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGTCAtt < 2:511571/147‑1 (MQ=255) cTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTg < 1:35237/149‑1 (MQ=255) gcgcgcACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCATGTTCGCCAGCTATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTggg < 1:81001/149‑1 (MQ=255) aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGAcc > 1:165142/1‑149 (MQ=255) aaaaaTGTGTCAGGCGCGGGTTTATGGTGTTGGACGAGAGCGGCAGCGACGAGGGCGTCACAATAATGGGGAAAGCCCAGGGGCGCCAGCGATGCCGCAGAGAGGGCGCTTTTAGTCCGCCTTCCTACACCCATTGGGagaagagtaag > 2:511357/1‑144 (MQ=255) aaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGc < 1:279068/149‑1 (MQ=255) gtgtCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACt < 2:202581/149‑1 (MQ=255) cTGGCGCCGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGTCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTc < 2:472161/149‑1 (MQ=255) tGGCGCGGGTTTAGGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 2:296311/149‑1 (MQ=255) ggCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcac > 1:462397/1‑149 (MQ=255) tGGTGTTTGACGTGATCGGCAGCGGCGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAag > 1:493980/1‑149 (MQ=255) ggTGTTGGACGTGATCCGCAGCGCCGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCCCAGCTGGCTGCTCAACTCCCCGTTCCTACAGCCATGGGGCGACGACCATGCCAACTTGTCACCACCTCAACAaga < 2:260115/149‑1 (MQ=255) tttGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCAAACTTTTCACCACCTCACCAAGAGGaa > 2:20366/1‑149 (MQ=255) cGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGt < 1:48914/149‑1 (MQ=255) cgacgaCGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGAAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGAAAGCGGTTCGCCGCTATcc > 1:363642/1‑149 (MQ=255) aaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATCcttct > 1:409513/1‑149 (MQ=255) aaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtct > 1:75618/1‑149 (MQ=255) aaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActtct > 1:422903/1‑149 (MQ=255) tCCCCGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttt < 1:64634/149‑1 (MQ=255) gTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGCCGATAGCGAGCAGCATACTTCTTACTGCTTCTGTTTTTTCAc < 1:564513/149‑1 (MQ=255) gCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAAc < 2:325169/149‑1 (MQ=255) aGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCGGCATACTTCTTACTGCTTCTGTTTTTTCCCGCGCTAACGCATGCGGGt > 1:31978/1‑149 (MQ=255) gATGGCGCTTTAAGGACCCGTTCCTACAGCCATTGGGCGACGACCATGCCAATTTTCCATCAGACTAACAAGGGTATGCGGTTCGTCGCTGTTCAGCAGCATACTTCTTACCGCTTCTGTTTTTACACGCGATAACGCATGCGTGTCga < 2:62808/149‑1 (MQ=255) ggCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGAt < 1:151750/149‑1 (MQ=255) | CGTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGAT > NC_000913_3_hsa_tpiA/2817024‑2817310 |
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 < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |