| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,976,638 | T→G | 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 | 97.1% | 103.6 / NA | 35 | S14A (TCA→GCA) | galR | galactose‑inducible d‑galactose regulon transcriptional repressor; autorepressor |
| Reads supporting (aligned to +/- strand): ref base T (0/1); new base G (18/15); total (19/16) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.71e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 | |||||||||||
CGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAC > NC_000913_3_hsa_tpiA/2976495‑2976780 | cctttGGCTCACATTCCCACGATGAAAACACGCCACCCCCTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTc < 2:610546/147‑1 (MQ=255) tCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGCTGTCGCCCGACTGGCAGGCGTTGCCGTCGCCACCGt > 2:53856/1‑149 (MQ=255) tCACATTCCCACGATGAAAACACGCCACCCCTTGAACAAACGGGCGTTTTCCGTAACACCGAAAGAAGGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGt > 2:77919/1‑149 (MQ=255) ttCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGCTATTTTCATGGCGACCATAAAGCTGATGACCCGACTCGCACGCGTTTCAGTCGCCACCGTTTccc < 2:285080/149‑1 (MQ=255) gATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCAt < 2:24135/149‑1 (MQ=255) aaaaCCCGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATtaat < 1:640887/149‑1 (MQ=255) aaaaCACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTCCAGCCGCCACCGTTTCCCGCCtcattcat > 2:527146/1‑149 (MQ=255) ccACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCAcc > 1:12794/1‑149 (MQ=255) cTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAATGTATGTTCATGGCGACCATAAAGGATGTAGCCCGACGGGCAGGCGTTGCAGTGGCCACCGTTTCACGCGTCATTAATAATTCCCCCAAAGc > 2:497928/1‑149 (MQ=255) ttGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGcc > 2:535104/1‑149 (MQ=255) tGAACCAACGGGCGGTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATTATTCACCCAAAGCCa < 2:70144/149‑1 (MQ=255) ccAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGa > 1:573224/1‑149 (MQ=255) ttttCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATtaata < 2:543502/120‑1 (MQ=255) ttttCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATtaata > 1:543502/1‑120 (MQ=255) tttCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCggc < 2:179262/149‑1 (MQ=255) ttCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCggct < 2:434707/149‑1 (MQ=255) tAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCACAGCCAGCGAAACTTCCCGgctggctg > 2:254371/1‑149 (MQ=255) aaCACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCtgt < 1:548128/149‑1 (MQ=255) cacTGAAAGAGTGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCACAGCAAACTAAGCTTCCCGGCGGGCTTTGc > 1:654621/1‑149 (MQ=255) tGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATa < 2:12794/149‑1 (MQ=255) aaaGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACAATAAAGGAGGTAGACCGACTGGAAGGCGTTGCAGTCGCCACCGTTTCCCGCGTGCTGCATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTCTGcccaat > 2:237208/1‑144 (MQ=255) tAAGCGTTTACCCACTAAGGTATTTTCCTGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCAGTAATAATTCACCCAAAGCCAGGGAAGCTTCCCGAGAGGCGGTGACTAGTGCAGTGGa > 1:163436/1‑149 (MQ=255) agggTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGt < 2:614238/146‑1 (MQ=255) tACCCACTAAGGTAGTTTCAGCGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTa < 1:375323/149‑1 (MQ=255) tATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGACGCACCAGAATCACCCGTCATTAATAATTCACCCACAACCAGTAAATGCTCCCTACTGTCCGGGCATAGTGCAATGGGGTCTCTTAGCAATCAccctc > 2:142463/1‑147 (MQ=255) gtCATGGCGACCCTAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATGAATAATTCACCCAAAGCCAGCGAAGCTTCCCGCCTGGCTCGGCATAGTACACAGACCTCTCTTCCCTCTCACCCCaacac > 2:178888/2‑147 (MQ=255) gACCATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGccc < 1:142463/149‑1 (MQ=255) cATAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGGCTCTTAGCTATCACCCGAACGCCAACGCCCGTg > 1:526651/1‑149 (MQ=255) aTAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGACGGTCTATTGGGCAATGGAGTCCCTTAGCTATCACCCGAACGCCAACGCCCGTgc > 1:524980/1‑149 (MQ=255) tAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTgcg > 1:542295/1‑149 (MQ=255) tAAAGGATGTAGCCCGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCACAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTgcg > 2:407870/1‑149 (MQ=255) cccGACTGGCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGcagcag < 2:496720/149‑1 (MQ=255) ggCAGGCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTg < 1:49876/149‑1 (MQ=255) ggCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAc < 1:77919/149‑1 (MQ=255) ggCGTTGCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAc > 1:379281/1‑149 (MQ=255) | CGTTTGGCTCACATTCCCACGATGAAAACACGCCACCCCTTGAACCAACGGGCGTTTTCCGTAACACTGAAAGAATGTAAGCGTTTACCCACTAAGGTATTTTCATGGCGACCATAAAGGATGTAGCCCGACTGGCAGGCGTTTCAGTCGCCACCGTTTCCCGCGTCATTAATAATTCACCCAAAGCCAGCGAAGCTTCCCGGCTGGCTGTGCATAGTGCAATGGAGTCTCTTAGCTATCACCCGAACGCCAACGCCCGTGCGCTGGCGCAGCAGACCACTGAAAC > NC_000913_3_hsa_tpiA/2976495‑2976780 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |