Predicted mutation | |||||||
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evidence | seq id | position | mutation | freq | annotation | gene | description |
RA | NC_000913_3_hsa_tpiA | 2,976,684 | G→T | 19.0% | S29I (AGC→ATC) | galR → | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
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 | 2,976,684 | 0 | G | T | 19.0% | 63.5 / 7.7 | 36 | S29I (AGC→ATC) | galR | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
Reads supporting (aligned to +/- strand): ref base G (7/22); new base T (3/4); total (10/26) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 3.70e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 8.86e-01 |
AACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGTGC > NC_000913_3_hsa_tpiA/2976537‑2976825 | acccAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGc < 2:158952/147‑1 (MQ=255) cagcGGGCGTTTTCCGTAACACTGATAGCACGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGaa < 2:511528/146‑1 (MQ=255) attCCGGAAACCTGAAAGAAGGTAAGCGTTTACCCACTAAGGTATTTGCATGGCGACCACAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCggc < 2:279764/148‑1 (MQ=255) cGTAACACGTAAAGAATGTAAGCGTTGACGCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCggctggc < 1:508949/149‑1 (MQ=255) tAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGgctggctg > 1:192242/1‑149 (MQ=255) aaCCCTGAAAGATTGTAAGCGTTTGCGCACTGTGGTATTTGCAGTGGGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCtgt < 2:69883/149‑1 (MQ=255) cTGAAAGAATGCAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCAt < 1:42673/149‑1 (MQ=255) tGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAACCAGCGAAGCTTCCCGGCTGGCTGTGCATa < 2:98388/149‑1 (MQ=255) tGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGTTGTAGCCCGACTGGCAGGCGTTGGAGGCACCGCTTTTTCCCGCGTCATTAATAAGTCACCCAGAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATg < 1:255295/149‑1 (MQ=255) tatgCGTTTACCCACTAGGGTATTTTCAGGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGGTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGa < 2:66967/146‑1 (MQ=255) aGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGt < 1:602240/149‑1 (MQ=255) aGCGTTTACCACCTAAGGTATTTGCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTTCCGGCTGGCTGTGCATAGTGCAATGGAGt < 1:171373/149‑1 (MQ=255) gCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGtc < 1:462251/149‑1 (MQ=255) ccACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCt > 2:619103/1‑149 (MQ=255) gcggctgtAAAGGATGTAGCCCGACTGACAGGCTTTGCAGGCTCCACCGTTTCCCGCGTCATTAATAATTCACCCAATGCCAGCGAATCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGaacgccaacgc < 2:190751/142‑1 (MQ=255) gACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCGACTCGCTGTGCAGCGTGCAACGGGGTCCCTTAGCTATCACCCGcgcgccaacgcac > 1:313464/1‑147 (MQ=255) aCCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCCTACCTAGCACCCGAACGCCAACGCCCg > 1:51437/1‑149 (MQ=255) aTAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTgc < 1:605263/149‑1 (MQ=255) tAGCGCGACTGGCAGGCGTTGCATTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCgcag < 1:268360/149‑1 (MQ=255) ggccGGCTTGCAGGTGGTGCAGGCGCCGCCGTTACGCGCGGAATTAATAAGTCAGCAAGAGCCAGCGCGGCTGCGCGGCTGGCTGTGCAGAGGGCAATGGAGTGTGTTAGCTATCGCCCGAACGCCAACGCCCGTGCGCTGGCgcagca < 2:568075/147‑1 (MQ=255) aGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACACCTGaaa > 2:225526/1‑149 (MQ=255) gtcggttCAGTCGCCACCGTTGCCCGCGTCATTAAGAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGTCTGTGCATAGGTCAATGGAGTCTCTTAGCTATCACCCGAACGCCCACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAc < 2:359788/144‑1 (MQ=255) ggCGTTGCTCTCTCCACCCTTTCCCGCGTCATTAATAATTCCCCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAc < 2:265484/149‑1 (MQ=255) gCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAcg > 2:267549/1‑149 (MQ=255) aGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACggtcggtc < 1:358954/149‑1 (MQ=255) tCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTg > 1:380235/1‑149 (MQ=255) cGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTgg < 1:553724/149‑1 (MQ=255) ccACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCGGCAGACCACTGAAACGGTCGGTCTGGTc > 2:405632/1‑149 (MQ=255) cGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTg < 1:591320/149‑1 (MQ=255) cccGAGTCATTAATAATTCACCCAAAGCCATCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGAt < 2:625069/149‑1 (MQ=255) tCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATCGTGCAATGGAGACTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTcc < 1:353122/149‑1 (MQ=255) aataatTCTCCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATcc < 1:412487/149‑1 (MQ=255) taatTCACCCACAGCCAGCGAAGCTTCCCGGCCGGCTGTTCATAGTGCAATGGAGTCTCTAAGCTACCACCCGAACCCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGt < 1:143360/149‑1 (MQ=255) ccAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGt > 2:185113/1‑149 (MQ=255) ccAAAACCAGCGAAGCTCCCCCGCTGGCTGTGCATAGGGCAATGGAGTCTCGTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAATCGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGt < 2:219076/149‑1 (MQ=255) aaaGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGGGTGTTAGCTATCCCCCGAACGCCAAGGCACGTGCGCTGGGGCAGCAGACCACTACAACGGTCGGTCTGGGCCGGGGTGAGGGTACCGATCCGCTGTTAGGtag > 2:238887/1‑147 (MQ=255) | AACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACGGTCGGTCTGGTCGTTGGTGATGTTTCCGATCCGTTTTTCGGTGC > NC_000913_3_hsa_tpiA/2976537‑2976825 |
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: ‑ |