| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,817,170 | C→A | 100% | E112* (GAA→TAA) | yqaB ← | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,817,170 | 0 | C | A | 95.5% | 92.1 / ‑5.0 | 37 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (18/16); minor base T (1/1); total (20/17) | |||||||||||
| 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 | |||||||||||
| Rejected as polymorphism: E-value score below prediction cutoff. | |||||||||||
| Rejected as polymorphism: Frequency below/above cutoff threshold. | |||||||||||
| Rejected as polymorphism: Variant not supported by required number of reads on each strand. | |||||||||||
GTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC > NC_000913_3_hsa_tpiA/2817025‑2817314 | gTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCACTGCCTCAGCGATGGCGCTTTGACt > 2:371932/1‑149 (MQ=255) cATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGAGCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAg > 1:309846/1‑149 (MQ=255) gCTGCGCGCACAACAAAAATGTGTCAGGCGCGGGTTTATGGTGTTTGAAGTGATCGGCAGCGACGACGGCGGCAAAATAGAGGCGTAAACCAAGGTGGGCCAACAATGAAGCAACGCAGGCGCGTTAACTACCCATTCCTCGAGCCCtt > 2:68468/1‑149 (MQ=255) acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga < 2:419292/149‑1 (MQ=255) caacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTTACTCCCCGTTCCTACAGCCATTGGGCgacgac > 2:248816/1‑149 (MQ=255) caacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac < 1:149415/149‑1 (MQ=255) caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGAGGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt > 1:454445/1‑149 (MQ=255) tCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACtttt > 2:43810/1‑149 (MQ=255) cTGGCGCGGGTTTACGGTGATTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTACGCCAGCAATGCCTCACCGATGGCGCTTTAACTCCCCGTGCCTACAGCCATTGGGCGACGACCCTGCCAACTTTTc > 2:484883/1‑149 (MQ=255) tGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca < 1:640449/149‑1 (MQ=255) gcgGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcaccac > 1:4580/1‑149 (MQ=255) ggTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACCTCAACAaga > 2:69594/1‑149 (MQ=255) gtgtTTGACGTGATCGGCAGCGACGGCGGCGTCAAAATAATGGCGTAATGCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCGTTGGGCGACGACCATGCCAACTTTTCACCACATCAACCagag > 1:552425/1‑149 (MQ=255) ttGATGTGAGCGGCAGTGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCAACGACCATGCCAACTGTTCACCACATCAACAAGAGGAAg < 1:486129/149‑1 (MQ=255) aCGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCGGCACTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCCACaagcggaagcgg > 1:135729/1‑149 (MQ=255) cGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGt < 1:333467/149‑1 (MQ=255) gggATCGGCAGCGACGACGGCGTCAAAATAATGGCGGAAGCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGtt < 1:184008/147‑1 (MQ=255) aTCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCCGCGATGGCGCTTTAACCCCCCGTTCCTACAGCCCTTGGGCGACACCCATCCCAACTTTTCACCACATCACCCACAGGAAGCGGTTcca > 2:122683/1‑147 (MQ=255) cgacgaCGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAGCAAGAGAAAGCGGTCCGACGCTATcc > 1:626472/1‑149 (MQ=255) gacgacGGCGTCAAAATAATGGCGCAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCca < 2:204607/149‑1 (MQ=255) ggcgacGTCAAAATAATGGAGACATTCTAGTTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 1:505709/144‑1 (MQ=255) gTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGAGGGCCGCGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagcagaagac > 1:335361/1‑144 (MQ=255) aggCGTAATCCCACGTGCGCCAGCAATGCCTCAGCCATGTCGCCATATATCCCCGTTCCTACCGCCATTGGGCGACGCCCATGCCACCTCTGAACCCCCTCCAGCAGTGGAAGCGGTACAACCCTATCCACCAGACTACTCCTTACTGc > 2:36651/2‑149 (MQ=255) cccAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtttt < 1:622751/149‑1 (MQ=255) cgcCAGCAATGCCCCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGCAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCAcgcg < 1:368753/149‑1 (MQ=255) ggaaTGCCTCACCGATGGCGTTTTTGCTCCCCGTTCCTACAGCCATTCGGCGACGACCATGCCAACTTTTCACCACATCATCATTAGGAAGCTGTTCCACGCTAGCCAGCATCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAAc < 2:456513/147‑1 (MQ=255) cAATGCCGCGGCGATGGCTCTTTAGCTCCCCGGTCCTGCGGCCAGTGGGCGAGGAACATGCCAACTTTTCACCACAGCAACATGAGGAAGCGGTGTGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACg < 2:117368/149‑1 (MQ=255) aTGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACCGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCCCGCGCTAACGCa > 2:669395/1‑149 (MQ=255) ccTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGACGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCCTGCGCTAACCCATGc > 2:638208/1‑149 (MQ=255) cTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTGTCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTACCGCAGGCg > 2:590643/1‑149 (MQ=255) cTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCg < 1:248816/149‑1 (MQ=255) cTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCg > 1:213977/1‑149 (MQ=255) taaggCTCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGTTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGTGTCga < 2:662975/146‑1 (MQ=255) gATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCga < 1:14949/149‑1 (MQ=255) gcTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCgg > 1:59326/1‑149 (MQ=255) cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc < 1:198320/149‑1 (MQ=255) cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc < 1:69594/149‑1 (MQ=255) | GTCGGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC > NC_000913_3_hsa_tpiA/2817025‑2817314 |
| Alignment Legend |
|---|
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: ‑ |