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 | 95.8% | 145.7 / NA | 48 | L179L (CTG→TTG) | yiiQ | DUF1454 family putative periplasmic protein |
Reads supporting (aligned to +/- strand): ref base G (0/0); major base A (30/16); minor base C (1/1); total (31/17) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 |
AAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGAT > NC_000913_3_hsa_tpiA/4111517‑4111806 | aaaGGAAGATGGGCGCCCCGCAGGGCAGTAGGTCTGTGATCTTGTCTCGTGCTTCTTGCGTGACAAA‑GCTTTGCTTTTTGTCATTTATGCAAACCGTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAccc < 2:184553/149‑1 (MQ=255) aaaGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGCGAAACAGGATAGAGATTCAT‑TGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAccc > 1:645839/1‑149 (MQ=255) ggAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAccc < 1:351064/146‑1 (MQ=255) ggAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAccc > 2:351064/1‑146 (MQ=255) gAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCttt > 1:122071/1‑149 (MQ=255) aGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTGTGCTTTTTGTCATTGATTCAAACCGTCAAGCGATTCAGGTAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTc < 1:407462/149‑1 (MQ=255) ccGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCCTTGTCcg > 1:305046/1‑149 (MQ=255) cGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGCTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCcgc > 2:548338/1‑149 (MQ=255) cGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCTTTGTCcgc > 2:269375/1‑149 (MQ=255) ggCAGCAGGGCTGTGAAACTGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACCGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGacaa < 2:176757/149‑1 (MQ=255) gcagcaGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGccaac > 1:254854/1‑149 (MQ=255) agcagGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCCTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACAt < 1:276035/149‑1 (MQ=255) gTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGc > 1:511339/1‑149 (MQ=255) tgtgAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACACAGt > 2:678961/1‑149 (MQ=255) gtgAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTc < 1:214734/120‑1 (MQ=255) gtgAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTc > 2:214734/1‑120 (MQ=255) tgAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACACCATAACGCAgcgc > 2:333426/1‑149 (MQ=255) aGTATAGAGATTCAG‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTc < 2:115583/149‑1 (MQ=255) taGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGacaa < 2:352419/126‑1 (MQ=255) taGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGacaa > 1:352419/1‑126 (MQ=255) taGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACGTTCTGtc > 1:740815/1‑149 (MQ=255) taGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGtc > 1:740824/1‑149 (MQ=255) agagATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGtct < 2:529296/149‑1 (MQ=255) aaaGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAACAGTTCTGCCTGGGGTCGGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgttt > 1:420541/1‑149 (MQ=255) ggtgtgctttTTGGCATTTATTCAAACCATCAAGCGATTCAGATAGCGTCAGCTTAATCGGTTCAACAGCGAAGGTCACCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCCCCTTCTGTCCCGGTGTAATAACgtttgttt < 2:516536/145‑1 (MQ=255) ctttgctttTTGTAATTTATTCAAACCTTCAAGCGATTAAGATAGCGCCCGCTTAATCGGTTCAACAGCGAAGGTCAACCACTTTTCGCCGTGGTCTGCGAACACATAACGCAACGCACCTTCTTTCTCGGTGTAATAACgtttctttc > 2:463189/1‑148 (MQ=255) ttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTc > 1:410193/1‑149 (MQ=255) ttttttCTCTTTTTTTCAAACCTTCAAGCGATTCAGTTAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTcccc < 2:410193/148‑1 (MQ=255) ctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTcccc > 1:744723/1‑149 (MQ=255) tttATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTtagaa > 2:635843/1‑147 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTtagtggggc > 1:408459/1‑144 (MQ=255) aaaCCTTCAAGCGATTCAGAGAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTg > 1:864199/1‑149 (MQ=255) ctCAAGCGATCCAGATAGCGCCAGCTGAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtt < 1:347623/148‑1 (MQ=255) tCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCt < 1:279064/149‑1 (MQ=255) aGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCGGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCttt > 2:62074/1‑149 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCACCCCCTCTTCGCCCTTGTCCGCCACAACATAACGCAGTCCTCCTCCGGTCTCGTTGTAATAACGTTGGTTTTTACCCCCCGTTAGTAGGTACTGCGGTTATTTCTGGCTTtg > 2:143066/1‑149 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtg > 1:518054/1‑149 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtg > 1:518048/1‑149 (MQ=255) ccAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTg < 1:239668/149‑1 (MQ=255) ccAGCTAAATCGATACAACAGCGAACGTCAACCCCTTTTCGCCGTTCACCGCGACAACATAACGCAGTGCACCTACTGTCCCGGCGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTAGCTTTGTGTTTTg < 2:740824/149‑1 (MQ=255) cTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCa > 1:740868/1‑149 (MQ=255) tCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAAt > 1:671585/1‑149 (MQ=255) ggTTCAACAGCGAAGGTCAACACCTTTTCCCCGTTGTCCGAGACAACATAACACAGTGCACCTTATGTATCGGTGTAATAACGTTTGTTTTTCACCGGCGTTAATAGCAACTGCAGTTTTTTGTGGATTCGTGTTTTCGTCATAAATgg > 2:2565/1‑149 (MQ=255) aCAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTATTTTTCCCCGCCGTTAGTAGCTACTGCAGTGTTTTCTGGCTTGGTGTTTTGGTCCTGAATGTGGTAAg > 1:276681/1‑149 (MQ=255) aaGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCg > 2:299437/1‑149 (MQ=255) aGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAAc > 1:661437/1‑69 (MQ=255) aGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAAc < 2:661437/69‑1 (MQ=255) gTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGAt < 2:744723/149‑1 (MQ=255) | AAAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCAT‑CGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGTCATTAATGGGGTGAGTGTGCGGAT > NC_000913_3_hsa_tpiA/4111517‑4111806 |
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: ‑ |