| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 2,679,525 | G→T | 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 | 78.0% | 100.7 / 25.6 | 51 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
| Reads supporting (aligned to +/- strand): ref base G (6/5); new base T (20/19); total (27/24) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.56e-01 | |||||||||||
GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT > NC_000913_3_hsa_tpiA/2679381‑2679669 | gggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGa > 3:114580/1‑150 (MQ=255) ggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATACTACAGTTAATAGGGTATAGTGAAAGCGGCTAAACATAACAAG‑ACTACGGATGGTGAATAATGCAGATTTCGGAAAAACCGGAt > 1:184450/1‑150 (MQ=255) ttattaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATc < 3:194408/150‑1 (MQ=255) tattaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCg > 3:22318/1‑150 (MQ=255) attaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGCTTAATCGc > 3:36224/1‑150 (MQ=255) attaACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGc > 1:436541/1‑150 (MQ=255) acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTc > 1:322255/1‑150 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa > 1:259570/1‑150 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa > 1:361375/1‑150 (MQ=255) aacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa > 1:116533/1‑150 (MQ=255) ggCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTGAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTc < 2:296362/150‑1 (MQ=255) tCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa < 1:218122/150‑1 (MQ=255) tCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGa < 1:518613/150‑1 (MQ=255) tAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGc < 4:44131/150‑1 (MQ=255) attattTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAg > 1:239345/1‑150 (MQ=255) tattTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGAc > 2:380995/1‑150 (MQ=255) gtgATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCatat < 3:259362/150‑1 (MQ=255) atgaGCGGCAGCGCG‑TGCCGCTTAAATATTACAGTTCATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgc < 2:245515/150‑1 (MQ=255) tgaGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcg > 3:73986/1‑150 (MQ=255) gaGCGGCA‑CGCGCTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTgcgc > 1:513394/1‑150 (MQ=255) gCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa < 1:224323/150‑1 (MQ=255) tggCAGCGCG‑TGGCGTACAAATATTACTGTTAATAGGGTTTAGTGAACGCTGTTAAAAATAAAAGGCATCACGG‑TGGTGATTAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGTGCAGACTCATATTGCGCAAc < 2:501350/149‑1 (MQ=255) cGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc < 4:42944/150‑1 (MQ=255) cGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc > 1:351442/1‑150 (MQ=255) cGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc < 1:390121/150‑1 (MQ=255) gatCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACGCATATTGCGCAACCTCCCCGAGTCCcg < 2:204897/148‑1 (MQ=255) ttCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgc < 3:264720/149‑1 (MQ=255) tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAg > 4:45429/1‑150 (MQ=255) gggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccacca < 2:453227/150‑1 (MQ=255) aaCGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttt > 2:291655/1‑150 (MQ=255) aaCGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttt > 3:80299/1‑150 (MQ=255) aaCGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttt > 4:197905/1‑150 (MQ=255) cgcgGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAtttct > 2:351413/1‑148 (MQ=255) gcgGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc > 1:253692/1‑102 (MQ=255) gcgGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAc < 2:253692/102‑1 (MQ=255) gcgGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTc > 3:195031/1‑150 (MQ=255) cgGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCt < 3:122437/150‑1 (MQ=255) aaaaaTAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg < 2:348342/150‑1 (MQ=255) aaaaaTAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg < 1:414983/150‑1 (MQ=255) aaaaTAAAAGGCATCAAGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc > 3:311509/1‑150 (MQ=255) aTAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgctgc > 3:126601/1‑150 (MQ=255) aaGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt < 2:402598/150‑1 (MQ=255) aaGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgtt > 2:135265/1‑150 (MQ=255) aCGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCg < 4:114580/150‑1 (MQ=255) ggtgAATAATGCCGCTTGCGGCCAAGCCGGATTAATCGCCGTCAAGTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATa < 1:298138/150‑1 (MQ=255) tgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACa > 2:363504/1‑150 (MQ=255) gAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAg > 2:209983/1‑150 (MQ=255) ataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCg < 2:259570/150‑1 (MQ=255) taatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa < 2:160029/150‑1 (MQ=255) ttCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCa < 4:73986/150‑1 (MQ=255) gCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGtt > 3:59348/1‑150 (MQ=255) | GGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCG‑TGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGG‑TGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTT > NC_000913_3_hsa_tpiA/2679381‑2679669 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |