Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 3,793,162 | G→T | 17.6% | F174L (TTC→TTA) | yibB ← | YibB family protein, function unknown |
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 | 3,793,162 | 0 | G | T | 17.6% | 70.6 / 2.0 | 37 | F174L (TTC→TTA) | yibB | YibB family protein, function unknown |
Reads supporting (aligned to +/- strand): ref base G (15/14); new base T (5/2); total (21/16) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.26e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
TTGACTTTCCAGAACTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGTTGATAGCTTTATTTACAAAATA > NC_000913_3_hsa_tpiA/3793018‑3793308 | ttgaaattCCAGAACTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTAACAGTAAGCCCTTTTTTTATAGTGaaaa > 2:350049/7‑149 (MQ=255) aCTTTCCAGAACTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCTCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGAt < 2:233432/149‑1 (MQ=255) tttCCAGAACTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTACAGTGAAAAGATGc > 2:85401/1‑149 (MQ=255) gAACTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTTAAAAGCTGCATCTTa > 2:136425/1‑149 (MQ=255) aCTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTACCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACt < 1:535895/149‑1 (MQ=255) aTTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTtca > 1:230343/1‑149 (MQ=255) cTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTTTAGTGAAAAGATGCATCTTACTTTCATCAAATGGGaaa < 2:559069/149‑1 (MQ=255) tCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATcc > 1:304330/1‑149 (MQ=255) aTTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTATATAGTGAAAAGATGCATCTTACTTTCATCAAATGCGAAATCCCaa > 2:517338/1‑149 (MQ=255) tttATTCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCaaa < 1:343744/149‑1 (MQ=255) aCCAACAATAGCGCCCCCAACAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTc < 1:124535/149‑1 (MQ=255) ccAACAATTGCGCCGCCAATAATATATACATGGTTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAACATGCATCTTACTTTCCTCACATAGGAAAGACCAACTTTGAAATCCTca > 1:257893/1‑148 (MQ=255) cccccAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGTGTTACATTTgg < 1:432102/149‑1 (MQ=255) cccAATAATATGTACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCt > 1:430780/1‑149 (MQ=255) ccAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTTTTTTTTTTACATGAATATTGCCTTCATCAAATGGGACATCCCAAATTTTAAATCCTCGAGTT‑CAttttatctt > 2:261994/1‑143 (MQ=255) aataatATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTAt < 2:471433/149‑1 (MQ=255) aataatATATACACAATTGCCAAACATGAAATCAAAAACCTGATGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTTAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTAt < 1:70501/149‑1 (MQ=255) tatataCATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACACTAAGCCCTTTTTTTATAGTGAAAAGATGCACCTTAATTTCAACAAATGGAAAATCCAAAAATTTCAATCATCGAGTAAAACTCGGCTTATTGCaa > 2:326840/1‑149 (MQ=255) aCATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGcc > 1:604566/1‑149 (MQ=255) ttGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTTTATTTGAAACATGGATCTTACTTTCATCAAATAGGAAATCCTAAATTTTCACTCCCCAAGTTACATTGGTCTTATTGCACTTGCCaaaacc > 2:121547/1‑147 (MQ=255) aaTCATGAAATAACAAACCGGACGTGGAGATGTTACAGCAAGCCCTCTATCGGAAGCAAACCGATGCAGCAAGCGCTCATCAAATGGGAAATACCAAATTTTCAATGTTGAAGTTACATTTGGCTTATGGCAATAACCAAAATCTATcc > 2:209146/1‑149 (MQ=255) tCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATTTTTTTAAGATGCAACTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGTCAATAGCCAAAATCTATCCAc > 2:210894/1‑149 (MQ=255) aTGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTTTTTTTTTTAAATACATCATACTTTAATCAAATGGAAAATCCCAAATTTTCACTCCTCGAGTTACCTTTGGATTTTTCCAATACCCAAAATCTATctcgtt > 2:457219/1‑144 (MQ=255) aaTCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCGTCTTACTTACATCAAATGTTAAAGCCCAAATTTTCACTGTGTGAGGTACATTTGTCTTATGGCAATAGCCAAAATTTATCCTCGcaaca > 2:1047/1‑149 (MQ=255) tCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAag > 1:513221/1‑149 (MQ=255) cAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCGTCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAaga < 2:450369/149‑1 (MQ=255) tgAGATTTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTaa < 2:203192/149‑1 (MQ=255) gagaTGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAg > 1:560367/1‑149 (MQ=255) agaTGTGCCAGTAAGCCCTTTTTTTATAGTGAACAGATGCATCCTACGTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGc < 1:188835/149‑1 (MQ=255) agaTGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGc < 2:538065/149‑1 (MQ=255) tgACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATg > 1:616293/1‑149 (MQ=255) gACAGTAAGCCCGTTTTTTATAGTGAAAAGATGCATCTTACTTTCATGCAGTTGGAAAACCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGt < 1:537905/149‑1 (MQ=255) aCAGTAAGCCCTTTTTTTATAGTTAAACGATGCATCTTACTTTCATCAAATGGGAAATCCTAAATTTTCAATCCTCGAGTTAAATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGtt < 1:173988/149‑1 (MQ=255) tAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGTCGTTTTCACTAAGCCCATGTTGATa > 1:274587/1‑149 (MQ=255) gCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGTTGATAGCt < 1:470069/149‑1 (MQ=255) tttttttATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGTTGATAGCtttat > 1:13523/1‑149 (MQ=255) gTGAAAAGATGCATCTTACTTTCCTCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGTTGATAGCTTTATTTACAAAATa < 1:321916/149‑1 (MQ=255) | TTGACTTTCCAGAACTAATTTATAGAATTCTTTCCATTTATGCTGTGAACCAACAATTGCGCCCCCAATAATATATACATGATTGCCAATCATGAAATCAAAAACCTGTTGTTGAGATGTGACAGTAAGCCCTTTTTTTATAGTGAAAAGATGCATCTTACTTTCATCAAATGGGAAATCCCAAATTTTCAATCCTCGAGTTACATTTGGCTTATGGCAATAGCCAAAATCTATCCACGCAACAAGAGGCGTTTTCACTAAGCCCATGTTGATAGCTTTATTTACAAAATA > NC_000913_3_hsa_tpiA/3793018‑3793308 |
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: ‑ |