| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,111,662 | G→A | L179L (CTG→TTG) | yiiQ ← | DUF1454 family putative periplasmic protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,111,662 | 0 | G | A | 76.9% | 38.4 / 7.5 | 26 | L179L (CTG→TTG) | yiiQ | DUF1454 family putative periplasmic protein |
| Reads supporting (aligned to +/- strand): ref base G (1/5); new base A (9/11); total (10/16) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.52e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 7.33e-01 | |||||||||||
AAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGT > NC_000913_3_hsa_tpiA/4111518‑4111782 | aaGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAAcccc > 1:323753/1‑149 (MQ=255) aTGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAATGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTACTCGGTTCAACAGCGAAGGTCAACCCCTTTTCGc < 2:391053/149‑1 (MQ=255) ccgccCCGCAGGGCAGCAGGGCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGtt < 2:38145/149‑1 (MQ=255) cAGGGCAGCAGGTCTGGGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAATGTCAACCCCTTTTCGCCGTTGTCCGCGa < 1:276360/149‑1 (MQ=255) cTGGGAAACACGATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAg < 2:561296/149‑1 (MQ=255) tgtgAAACAGTATCGAGATTCATAGGCCGATGATCTCGGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCACCACAACCTACCgacgc > 2:262452/1‑145 (MQ=255) gTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCt < 1:371285/149‑1 (MQ=255) tttCACCGGCATAGAGGTTCTGCTGTTTTACATTTTTTCAAACCGTCAACTGTTTCAGATAGCGACAGCTTAAGCGGGACAACCGCGAAGGTCAACCCCTTTGCGCCGTAGCTTTTGTTGTCATAACGCAGTGCACCTTCTGTGTCGgt < 2:261870/148‑1 (MQ=255) aTCGACACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGGTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGCCAACCCATTTTCGCCGTTGTCCGCGACAACCTAAAGCAGTGCACCTTCTGTCTCGGTGtaa > 2:431625/1‑149 (MQ=255) tCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGtact > 2:470531/1‑147 (MQ=255) acaAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgt > 1:481511/1‑149 (MQ=255) aGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgt < 1:289724/149‑1 (MQ=255) ggCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGTTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACgtttgtt < 1:506554/149‑1 (MQ=255) tttgctttTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGttttt < 1:32234/149‑1 (MQ=255) aTTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTACTAACGTTTGTTTTTTGCCGCCGTtatt > 2:14181/1‑147 (MQ=255) ttCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGa > 1:163051/1‑149 (MQ=255) aaaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTg > 1:212332/1‑149 (MQ=255) aaCCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGc > 2:313238/1‑149 (MQ=255) accctaaaGCGATTGACATAGTGCCGGCTTAATCGGTTCAACGGCGAAGGTCAGCACCTTTTCGCGGTTTTCCGCGACACCATAACGCAGTGCACCTGCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCa < 2:468423/143‑1 (MQ=255) aaGCCATTCAGATAGCGCCAGCTTAATCGGCTCAACAGCGAAGTTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCCCGGTCCAATAACTTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGttttt < 1:563634/149‑1 (MQ=255) aGCGCTTCAGATAGCGCCACCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTCTCGCCGTTGTCCGCGACACCATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGtttttt < 1:240833/149‑1 (MQ=255) ccaTTCACATAGAGCCATCTAAATCGGTTCAACAGCTACGTTCAACCCTTTTTTCCCATTTTCCGCCAAAACAGAACGCACTACCCCTTCGGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCt < 2:413240/147‑1 (MQ=255) aTTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTgg < 1:1998/149‑1 (MQ=255) gATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAACCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTtg > 1:138472/1‑149 (MQ=255) cAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTgg < 1:264336/149‑1 (MQ=255) aGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGt < 1:552583/149‑1 (MQ=255) | AAGGAAGATGGCCGCCCCGCAGGGCAGCAGGTCTGTGAAACAGTATAGAGATTCATCGGCACAAAGGCTTTGCTTTTTGTCATTTATTCAAACCTTCAAGCGATTCAGATAGCGCCAGCTTAATCGGTTCAACAGCGAAGGTCAGCCCCTTTTCGCCGTTGTCCGCGACAACATAACGCAGTGCACCTTCTGTCTCGGTGTAATAACGTTTGTTTTTCCCCGCCGTTAGTAGCGACTGCAGTTTTTTCTGGCTTTGTGTTTTGGT > NC_000913_3_hsa_tpiA/4111518‑4111782 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 27 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |