| 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 | 96.1% | 73.6 / ‑4.2 | 34 | A1074D (GCT→GAT) | yphG | DUF4380 domain‑containing TPR repeat protein |
| Reads supporting (aligned to +/- strand): ref base G (0/3); new base T (13/16); total (13/21) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 2.53e-01 | |||||||||||
| 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. | |||||||||||
GTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTGC > NC_000913_3_hsa_tpiA/2679383‑2679671 | gTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGAt < 1:492989/149‑1 (MQ=255) taACAACGGGTTATTTTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGcc < 1:325473/149‑1 (MQ=255) accgCTTATTCTAATTATTTTGTCATGAACGGCAGCGTGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCaa < 1:13451/146‑1 (MQ=255) ttAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa < 1:111194/148‑1 (MQ=255) gatgaGCGGCAGCGCGTGCCGCTCAAATAATACAGTTAATCGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATAtt < 1:381345/149‑1 (MQ=255) atgaGGGGCAGGGCGTGCCGTTCAAATATTACAGTTAATAGGGTTTAGTGAACGAGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTg < 2:12849/149‑1 (MQ=255) cGCTCAAATATTACAGTTAATAGACTTTAGTAAACTCGGTTAAAAATAAAAGACATGACGGTGGTGAAAGGTGCCTCTTTCGCTCCATCCGGATTAATCGCCGTCAATTCAGGGCGAGCTGACTCATTTTTCGCAACCTCCCCCAGccc > 2:832627/1‑149 (MQ=255) gCTGAAATGTTATAGTTAATAGGTTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAACTCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc < 2:724323/149‑1 (MQ=255) gCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc > 1:223035/1‑149 (MQ=255) cTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcg > 2:590131/1‑149 (MQ=255) aaaaTATTATGTTTTATAAGTTTTATGGGACGCGGTAAAAAATAAAAGTTATCACGGTAGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGCCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCcgcg < 2:797402/148‑1 (MQ=255) aaaTATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATAGCCGTCAATTCAGCGCGAGCAGACCCATATTGCGCAACCCCCCCCAGTCCcgccg > 2:287897/1‑147 (MQ=255) aGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCa > 1:334301/1‑149 (MQ=255) aGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCCTACGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCCCAGACGccacca > 2:724283/1‑149 (MQ=255) ttAATAGGGTTTATTGAACGCGGTTAAAAATAAAAGGCATCACGGGGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc < 2:465960/149‑1 (MQ=255) tgaagtaaCGGGGTTAATAATAAAAGGCGTCACGGTGGTGAATAATGCCGCTTTCGGACAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCa < 2:2203/143‑1 (MQ=255) gTGAACGCGGTTTAAAATGAAAGGCATCACGGTGGTGGATAATGCCGCTTTCGGCCAATCCGGGGTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCGGCGGGCGGCAGCATCGCCACCATCAGGc < 2:816240/149‑1 (MQ=255) cgcgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTGATCGCCGTCACTTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAtttt > 2:515318/1‑149 (MQ=255) ttAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGATTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCttt < 2:756545/149‑1 (MQ=255) tAAAAACACAAGGCATCAGGGTGGTGANTACTNCGGCTTTCGGCCAACCCGGTTTAATCGCCGTCAATTCAGCGCGATCAGCCTCATATTGCGCAACCCCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTa < 1:185628/149‑1 (MQ=255) aaaaaTAAAAGGCATCACGGTGGTGAATAATTTCGCTTTCGGAGGCGTTGAAAGAATCTCCGTAAATTCAGCGTTAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt < 1:611259/149‑1 (MQ=255) aaaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCGTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAt > 2:387015/1‑149 (MQ=255) aaaaTAAAAGGGGTCACGGTGGGGAATAATGCCGCTTGCGGCACATCCGGTTTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCACTCTCCCCGAGTCCCTTGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg < 2:328519/149‑1 (MQ=255) aaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCCTTTTTCTTTAtgct > 2:651905/1‑149 (MQ=255) aTCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGCCTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaa > 1:278284/1‑149 (MQ=255) tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaa > 2:418462/1‑149 (MQ=255) tCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCCGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTaaa > 2:208730/1‑149 (MQ=255) aCGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCTACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc < 2:738750/149‑1 (MQ=255) ataatGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGACCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCCGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGc < 1:349023/149‑1 (MQ=255) gCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGCCGCCAGCATCGCCACCATCAGGCATTTTGCTTTATGCTGCCGTTGTAAATCGCCAAACAGCGacga > 1:685079/1‑147 (MQ=255) gCTTTCGGCCAATCCGGATCAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGAcaacaa < 1:359377/149‑1 (MQ=255) tCGGCCAATTCGTATTAATCGCCGTCAATGCAGGGCGAGCAGAGTCATATTGCGCAACCTCCCCGAGTCCCCTGGTCGCCCGCATCGCCACCATTAGGCATTCTGCTTTATGCTGCTGTTGTATATCGCCATACAGCGACAACAAGTCa < 2:699170/149‑1 (MQ=255) cGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAg < 1:348333/149‑1 (MQ=255) aaGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTGc < 2:184942/149‑1 (MQ=255) | GTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTGC > NC_000913_3_hsa_tpiA/2679383‑2679671 |
| 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: ‑ |