| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,976,638 | T→G | 69.2% | S14A (TCA→GCA) | galR → | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,976,638 | 0 | T | G | 69.2% | 28.9 / 18.2 | 33 | S14A (TCA→GCA) | galR | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
| Reads supporting (aligned to +/- strand): ref base T (4/6); new base G (6/17); total (10/23) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.44e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 6.00e-01 | |||||||||||
TTGCGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACG > NC_000913_3_hsa_tpiA/2976492‑2976781 | tcgCGTTTGGCTCACAGTCCCGCGATGAAAACACGCCACCCCGTGCACCAACGGGCGATTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGATCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCa < 1:626270/147‑1 (MQ=255) cTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCGGGCGCCAccc > 2:91459/1‑148 (MQ=255) tCACGTGCCCGCGGTGAAACCACGTCACCCGTGGAACTAGCCGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCGCTGAGGTATTTTCATGGCGACCATAAAGGATGTAGTCCGACTGGCAGGCGTTTCAGTCGGCACCGt < 2:382524/149‑1 (MQ=255) cACCCCTTGAACCACCGGGCGGTTGCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCAccc < 2:61943/149‑1 (MQ=255) cACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCatac > 2:462919/1‑146 (MQ=255) aCCCCTTGAACCAACGGGCGTTTTCCGTAACACTGCAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCCTCTCAGTCGCCACCGTTTCCCGCGTCCTTAATCATTCCCCCa > 2:107226/1‑149 (MQ=255) cccTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCaaa < 1:553173/149‑1 (MQ=255) cTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGc < 2:369976/149‑1 (MQ=255) ttGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGCTGTAGAAGGGTATGCAGGCGTTGCCGTCGCCACCGTTTCCCGCGTGATTAATAATTTACGCAAAGcg > 1:152053/1‑148 (MQ=255) tGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACGAAGGTATTTTCATGGCGACTATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAACGCCa < 2:427852/149‑1 (MQ=255) 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) | TTGCGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAACG > NC_000913_3_hsa_tpiA/2976492‑2976781 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |