Predicted mutation | ||||||
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evidence | seq id | position | mutation | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 4,111,662 | G→A | L179L (CTG→TTG) | yiiQ ← | DUF1454 family putative periplasmic protein |
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 | 4,111,662 | 0 | G | A | 98.2% | 178.6 / NA | 56 | L179L (CTG→TTG) | yiiQ | DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (29/26); minor base T (0/1); total (29/27) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 4.82e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01 |
AGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGAT > NC_000913_3_hsa_tpiA/4111519‑4111806 | aGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCt > 2:433151/1‑149 (MQ=255) aGGAAGATGGCCGCCCCGCAGGGCACCCGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCt > 2:226841/1‑149 (MQ=255) gAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCttt > 1:119504/1‑149 (MQ=255) aGATGGCCGCCCCGCAGGGTAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGTACAAAGACTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGGCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTc < 2:789646/149‑1 (MQ=255) gATGGCCGCCCCGCAGCGCAGCAGGTCTGTGAAACAGCATAGAGATTCATCGGCACAAATGCTATGCTTTTTGTCATGTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAGCAGCGAAGGTCAACCCCTTTTct < 2:957326/149‑2 (MQ=255) tGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGcc < 2:119504/149‑1 (MQ=255) cgccCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGtcg > 2:520137/1‑147 (MQ=255) cccGCACGGCCGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTcc < 2:973556/149‑1 (MQ=255) aGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGac > 2:921192/1‑149 (MQ=255) agcagGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCAATTATTCAAACCGGCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACAt > 2:841086/1‑149 (MQ=255) tCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCa < 2:192746/149‑1 (MQ=255) tgtgAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGt < 1:226841/149‑1 (MQ=255) gtgAAACAGTATAGAGATTCATCGGCACAGAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCCTTTCGCCGTTGTCCGCGACAACATAACGCAGTg < 2:617862/149‑1 (MQ=255) gAAAGAGTATACAGAGTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCa < 2:682761/149‑1 (MQ=255) aaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCAcc > 1:953875/1‑149 (MQ=255) aaCAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCCGCACAACATAACGCAGTGCAcc > 1:656198/1‑149 (MQ=255) cAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGATTAAACAGGTCAACAGCGAAGGTCAACCCCTTCTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCtt < 1:975491/149‑1 (MQ=255) gTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCt < 2:606983/149‑1 (MQ=255) tataGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATCAAGGTAGAGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAACCCTTTTCGCCGTTGTCCGCGACCACATAACGCAGTGCCCCTTCTg > 1:976382/1‑149 (MQ=255) ataGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGCCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGt > 2:983911/1‑149 (MQ=255) agaTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCg > 2:627023/1‑149 (MQ=255) agaTTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCg < 1:199339/149‑1 (MQ=255) aTTCATCGGCACAAAGGCTTTGCTGTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGgt < 1:802596/149‑1 (MQ=255) aTTCATCGGCACAAAGGCTTTGCTATTTGTCATTTATTCACAACTTCAAGCGCCTCAGATAGCGCCAGCTTAATCGGTCCAACAGCGAAGGTCAAACCCCTTTCGCCGTTGTCCGCGACACCATAACGCAGTGCACCTTCTGTCTCCgt > 2:768877/1‑149 (MQ=255) ttCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGgtg < 1:278454/149‑1 (MQ=255) tCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGgtgt < 1:231327/149‑1 (MQ=255) gcgaaaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCTACCTCTTTTCAGCGGCGACCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGtaatatc < 2:693231/145‑3 (MQ=255) gCAAAAAAGCTTTGTGTTTTGTCGGCTATTCAGCCCTTCATGCTGTTCAGTTTTCAAAAGCTCAAGCGGTTCAAATGGCATGGTCATCCTCTTTTCGACAGTGTACGCGACACCCTATCGCCGTGCTTCTTCTGTCTCGGTGTAATAAc < 2:195153/149‑1 (MQ=255) gctttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgttt > 2:654100/1‑149 (MQ=255) tgctttTTGTCATTTATTCCAAGCTTCAATCGGTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTcc < 2:991560/149‑1 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc < 2:164371/74‑1 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc > 1:164371/1‑74 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGc > 2:167157/1‑147 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGc < 1:167157/147‑1 (MQ=255) aaaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGGGTACCTCCTGTCTCGGTGGAATAAGGTGTGTTTTTTCCCGCCGTTAGTAGCTACtt > 1:405089/1‑148 (MQ=255) aaaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTGTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTg < 1:415665/149‑1 (MQ=255) ttCAAGCGATTCAGATAGCGCTATCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtt < 1:592895/149‑1 (MQ=255) ttCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTATCTCAGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtt > 1:400975/1‑149 (MQ=255) aGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAAGACCGTTTGTTTTTCCCCTCCGTAAGTAGCGGTTGCACtttttt > 2:332105/1‑149 (MQ=255) aTTCCGATAGCGCCAGCTTAATCGGTTCACCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCCCCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTgg < 1:890516/149‑1 (MQ=255) aTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTgg > 2:526166/1‑149 (MQ=255) ttCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGc > 1:10134/1‑149 (MQ=255) aGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt > 2:320467/1‑149 (MQ=255) gcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTc > 1:264277/1‑105 (MQ=255) gcCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTc < 2:264277/105‑1 (MQ=255) ccAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTg < 1:526166/149‑1 (MQ=255) ccAGCTTAACCGGTTCGACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTACCCCACCGTTAGTACCGACTGCAGTCTTTTCTCCCTTCGTGTTTTg > 2:645456/1‑149 (MQ=255) ggTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATgg > 1:847040/1‑149 (MQ=255) gTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATggg < 1:320467/149‑1 (MQ=255) gTTCAACAGCGAAGGTCAACCCCTATTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTCTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATggg > 1:900314/1‑149 (MQ=255) aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAg > 1:584573/1‑149 (MQ=255) cAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAgt < 1:627023/149‑1 (MQ=255) cGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCCCCTTCTGTCTCGGCGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTTGTCATTTATGGGCTGAGtgtg > 2:434786/1‑149 (MQ=255) gTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCgg > 1:539529/1‑58 (MQ=255) gTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCgg < 2:539529/58‑1 (MQ=255) gTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGTTCATTAATGGGGTGAGTGTGCGGAt > 1:355639/1‑149 (MQ=255) | AGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGAT > NC_000913_3_hsa_tpiA/4111519‑4111806 |
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 < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |