| 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 | 99.0% | 91.6 / ‑6.7 | 32 | E112* (GAA→TAA) | yqaB | fructose‑1‑P and 6‑phosphogluconate phosphatase |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (16/15); minor base T (1/0); total (17/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 | |||||||||||
| 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. | |||||||||||
CACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC > NC_000913_3_hsa_tpiA/2817033‑2817314 | cACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTc > 1:494260/1‑149 (MQ=255) gCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa > 1:411364/1‑149 (MQ=255) tACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGcc > 1:247046/1‑149 (MQ=255) ggcgcgcACAACCAAAAGGGTGCTGGCGGGATTTTATGGTGTTTGCCGTGTGCGGCAGGGAAGAGGGCGTTAAAATAAAGGTGTTTTCCTAGGTGCGCCAGCAATGCCACCGCGACGGCGTTGTAACTCCCCGTTCCTACAGCCATTgg < 2:397284/148‑1 (MQ=255) aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACTAcc > 2:247454/1‑149 (MQ=255) tgtCTGGCGCGGGTTTTGGNTNTNTNACGTGATCGGCAGCGACGACGGCGGGAAAATAATGGCGTAATCCCAGGTGCCCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACtt < 1:495859/149‑1 (MQ=255) tGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTca > 2:250803/1‑149 (MQ=255) cgGGCTTATGGTGTCTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACcaca < 1:50391/149‑1 (MQ=255) ggTGTATGGTGTTTCACGTGATAGACCGAGAAGACGGACTACAAATAATAACGTATTCCGAGGTTTGCCAGCAATGCCTCTGCGATGGCGCTTTTACCCCCCGTTTCTAGAACCATTGGGCCACGACCATGCCAACTTTTCACAACAtg > 2:306312/1‑148 (MQ=255) ggTATTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga < 1:188035/149‑1 (MQ=255) gtgtTTGACGTTATCGGCAGCGACGACGGCGAAAAAATAATGGAGTAATCCCAAGTGCGCCAGCAATGCCTCAGCGATGACGCTTTAACTCCCAGTTCCTACAGCCATGTGCCGCCGAACATCCAAACCATTCCCCACCTCACCAagag > 2:268158/1‑149 (MQ=255) gtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAACAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCACCAAGAGGa > 2:53659/1‑149 (MQ=255) gACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCg > 2:481456/1‑149 (MQ=255) aCGTTATCGGCAGCGACGACGGCATCAAAATAATGGCGTAATCCAAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCACGTGCCTACAGCCATTGGGCGACGAGCATGCACAATTTTAACCAAAGCAAAAACACGAAGAgg > 2:635920/1‑149 (MQ=255) acgacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcag < 1:392622/149‑1 (MQ=255) gacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca < 1:47954/149‑1 (MQ=255) cAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATActt < 1:638719/149‑1 (MQ=255) aaaaTAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCAAACTTTTCACCACATCAACAAGCGGAAGCGGTTCGACGCTCTCCACCACCTTActtc > 2:600403/1‑149 (MQ=255) aataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTCTCCAGCAGCATActtctt > 2:84267/1‑149 (MQ=255) ataatGGTGTATGCCGAGTTGCCCCAGCACCTGCTCAGGGGTGGCGCTGTAACTCCTCGTCCCCACACCCATTGGGCGACGACCATGCGAACTTTTCAACACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa < 2:498338/149‑1 (MQ=255) ataatGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa < 1:38672/149‑1 (MQ=255) taatGGCGAAATCCCCGGTGCGCCAGCAATCCCGTAGCGGTGCCCCTTTAACTCCCCGTTCCTCCAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTAc < 1:187477/149‑1 (MQ=255) tGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGc < 2:555226/149‑1 (MQ=255) gCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAGGAGGAAGCGGTTCGGCGCTATCCAGCAGCATACTTCTTCCTGCtt > 1:338182/1‑149 (MQ=255) gTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCt < 1:602873/149‑1 (MQ=255) ccAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGttttt > 1:274787/1‑149 (MQ=255) aGGTGCGTCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc < 1:467508/149‑1 (MQ=255) ccAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAACCATTGGGCGACGACAATGCCCACCTTCCACCACATCAACAAAAGGAAGCGGTTCAACGCAACCCAGCCGCACACTTCTTACACCTTCAGTTTTTTCCCCCGCt > 2:124727/1‑149 (MQ=255) tCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAAGTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATATTTCTTACTGCTTCTGTTTTTTCACGCGATAACGCATgggg > 1:456714/1‑149 (MQ=255) gCGATGGCGTTTTAACCCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCGCGCGCTAACGCATGCGGGTc < 2:422149/149‑1 (MQ=255) tGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGAAGCATACGCCGTACTGCTTCTGTTTTTTCAAGGGCTAAGGCATGCGGGCAgaga > 1:470829/1‑149 (MQ=255) cTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGc < 1:468807/149‑1 (MQ=255) | CACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCATGCGGGTCGAGATCGGC > NC_000913_3_hsa_tpiA/2817033‑2817314 |
| 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: ‑ |