| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,679,525 | G→T | 100% | A1074D (GCT→GAT) | yphG ← | DUF4380 domain‑containing TPR repeat protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 2,679,525 | 0 | G | T | 100.0% | 71.1 / ‑6.7 | 27 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
| Reads supporting (aligned to +/- strand): ref base G (0/0); major base T (11/15); minor base C (0/1); total (11/16) | |||||||||||
| 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. | |||||||||||
TTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGT > NC_000913_3_hsa_tpiA/2679390‑2679668 | ttaACAACGGCTTATTCTTATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTTGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGc < 1:224380/149‑1 (MQ=255)ttaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGAGCGAGCCGCTCAAATATAACACTGAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGc > 1:589748/1‑149 (MQ=255) acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGTCGCTCAAATATTACAGTTAATAGGGTTTAGTGAAGGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt < 1:499059/149‑1 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCCCTTTCGGCCAATACGGGATAATCGCCGTCa > 2:392284/1‑149 (MQ=255) gctttattatgTTGTTGTGAGCGTCATGGCGTGCCGCCCAAATATTACAGTTAATAGGGCTTAGTGTTCGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgcgc < 2:525649/144‑1 (MQ=255) cTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa > 2:119122/1‑149 (MQ=255) gtgATGAGCGGCCGCGCTTGCCGTGCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCata < 1:278071/149‑1 (MQ=255) gtgATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCata < 1:145052/149‑1 (MQ=255) gtgATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCata < 1:119122/149‑1 (MQ=255) ggaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc < 1:560974/148‑1 (MQ=255) cGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa > 1:543574/1‑149 (MQ=255) gggcgTGCGGCGTATATATTATAGTGTATAGAGTTTAGTTACAGGGGTTAAAAATAAAAGGCATCACGGTGGTGAATATTGCCGCTTGCGGCCAATCCGGATTAATCGCAGTAAATTCGGCGCGAGCAGCCTCTTATTGCGCAACCTcc < 2:85669/147‑1 (MQ=255) gcgcGTGCCGTTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcc < 2:381074/149‑1 (MQ=255) gcgTGCCGCTCAAATATTACAGTTAATACGGTTTCCCAGACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcccc < 1:285478/149‑1 (MQ=255) gatCAATTATTGTAGTCAATAGGGTTTAGTGAAAGCGGTTAAAAATAAAAGGCATCATGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc < 2:68973/147‑1 (MQ=255) tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTCAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGAATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgc > 1:652624/1‑149 (MQ=255) ttAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc > 2:447453/1‑149 (MQ=255) gcgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttttt > 2:636633/1‑149 (MQ=255) aaaaGGCATCACGGTGGTGAATAATGCCGCTTCAGGCCAATCCGGATTAATCTCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATgctgct < 2:571820/149‑1 (MQ=255) tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCACCATCGCCACCATCAGGCATTTTTCTTTATGCTTCTTTGGTaaa > 2:306405/1‑149 (MQ=255) aCGGTGGTGAATAATTCCGCTTTCGGCCAACCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc < 2:507249/149‑1 (MQ=255) tggtgAAGAAGGCCGCTGTCGGCCAATGCGGGTGAATCGCCTGTAATTCATCGCGAGCACACTCATTTTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCa < 2:35823/149‑1 (MQ=255) cttcatGCCGCTTTCGGCCAATCCGGATTAATCGCCATCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGCCGCCAGCATCGCCACCCTCAGGCATTTTTCTTTATGCTGCCGTTTTAAATCGCCATACAg > 2:588429/5‑149 (MQ=255) agaatGCGTCTTTCGGCCAATCGTTATGTAGCGCCGGCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCTTAGTCTCGCGGACGCCAGCATCGCCGCCATCATGCATTTTTCTTTTTGCTGCTGTTGTAAATCGCCATACAGc < 2:247940/147‑1 (MQ=255) gcggCTTTCGGCCAATCCGTATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCTCGAGTCCCTTGGACGCCAGCATCGCCACCGTCAGGCCTTCATGGTTATGCTACTGTTGTAAATCGCCATACAGCGacaa < 2:276639/146‑1 (MQ=255) ccGCCTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTAATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacacc > 2:448339/1‑147 (MQ=255) gCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCCGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCACCATACAGCGACAACAATTCAgat > 2:226182/1‑147 (MQ=255) | TTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGT > NC_000913_3_hsa_tpiA/2679390‑2679668 |
| 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: ‑ |