| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,604,698 | C→A | 100% | A186E (GCA→GAA) | bglJ → | bgl operon transcriptional activator |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,604,698 | 0 | C | A | 99.3% | 99.8 / ‑6.8 | 35 | A186E (GCA→GAA) | bglJ | bgl operon transcriptional activator |
| Reads supporting (aligned to +/- strand): ref base C (0/0); major base A (12/22); minor base T (1/0); total (13/22) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 3.71e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.93e-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. | |||||||||||
TGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTAC > NC_000913_3_hsa_tpiA/4604563‑4604840 | tGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAt < 1:461986/149‑1 (MQ=255) aaCAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAAtgt < 2:375289/149‑1 (MQ=255) cATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg > 1:545995/1‑149 (MQ=255) cATTAAACAAAGGCGGGCGTTAAGCCAGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTgg < 1:598594/149‑1 (MQ=255) atcaaCCATAGCGGGACGTTAAGTCCGACGGTGAGAGAATTATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTggg < 2:366492/146‑1 (MQ=255) aTTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTggg > 1:433828/1‑149 (MQ=255) aaCCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATATCGCGTGGCTACGCAATGACACAAATTGCCGAGCCACTTAAACGCAAAATCAAAACGAACCGGGAACATAAATTAAATGTAATGTCCAAACtacgcat > 2:290967/1‑143 (MQ=255) aaGCCTGACGTCAAGCCCGAAGGAATAATAAATTTTGCGCTTTATGTCGCGTTGCTACTCAATGACATAAATTGCCGAGCAGCTTAAACGCAATATTAAAACGATCCGTGAACATAAATTTAATGTGATGGCGAAACTGGGCGTCAGtt < 2:405657/149‑1 (MQ=255) gCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATGAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttg > 2:107429/1‑149 (MQ=255) gCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGGGTCAGTTCTGACGCAGGgttg > 1:374313/1‑149 (MQ=255) ccGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATGAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGgttgtt < 1:107429/149‑1 (MQ=255) gACGGAGAGAGAAATATTGCGCTTTATTTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAACACGATCCGTGAACATAAATTTAATGTGATGTCGAATCTGGGCGGCAGGTCGGACGTAGAGTTGTTgg < 2:149953/149‑1 (MQ=255) gACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTgg > 1:526436/1‑149 (MQ=255) ccgatcgagaAATATTTCGCTTCATTGCGCGCGTCTAACAAATGACACAAATTGCAGAGCATCTTAAACGCAATATCAACACGACCCTCGAACAGAAATTTAATGTGATGTCGAAACTGGGTCTCAGTTCTGACGCAGGGTTGTTGGAg < 2:591272/143‑1 (MQ=255) gagagaAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGGGGCCg > 1:328592/1‑149 (MQ=255) ggcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTg < 1:57267/148‑1 (MQ=255) gcgcTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGTACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGt > 2:419600/1‑149 (MQ=255) ggcTTTATGTCGTGTGGCTACGCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACAAAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGCTTGTTGGAGGCCGCAGATATTCTGtt < 2:301198/148‑1 (MQ=255) cTCAATGACATAAATTGTCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGaaa < 2:630675/149‑1 (MQ=255) aaTGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACaa > 1:209205/1‑149 (MQ=255) gACACAAATTGGCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTa < 1:411862/149‑1 (MQ=255) acaAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTGAGTGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtg > 1:133622/1‑149 (MQ=255) caAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAAtgt < 2:433828/149‑1 (MQ=255) aTTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCCCAAATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGtt < 1:509840/149‑1 (MQ=255) ccGAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCGGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCAt > 1:228625/1‑149 (MQ=255) gAGCAGCTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATcc < 2:470648/149‑1 (MQ=255) agcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTAt < 2:212851/149‑1 (MQ=255) agcTTAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTAt < 1:564249/149‑1 (MQ=255) cTTAAACGCAATATCAAAACGATCCGAGAACTTAAAGTCAATTTTATGTCGAAACTGGGCGCCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGACATTCTGTTATGTATGCGGCATAGCGAAACAACTAAAGTGTTGCATCCCTATTa > 1:164043/1‑149 (MQ=255) tAAACGCAATATCAAAACGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAAt < 1:552433/149‑1 (MQ=255) aaCCCAATATCAAAACAATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCTGTTTTGACGCAGGGTTGCTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTTATGTGTTGCATCCCTATTAATct < 2:637263/149‑2 (MQ=255) aatcGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg < 1:433039/146‑1 (MQ=255) aaaCGATCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCgg < 1:31625/149‑1 (MQ=255) aaaCGATCCGTGAACATAAATCTAACGCCAGGTCGACACTAAGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGCGTTGCATCCCTCTTAATCCGCATGATGCCgt > 2:250251/1‑148 (MQ=255) tCCGTGAACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGAGTGCGGCATTGCGAACCAAGGATTGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTAc < 1:616591/149‑1 (MQ=255) | TGAACAATCAGTGGTACATTAACCAAAGCCGGACGTTAAGCCCGACGGAGAGAGAAATATTGCGCTTTATGTCGCGTGGCTACTCAATGACACAAATTGCCGAGCAGCTTAAACGCAATATCAAAACGATCCGTGCACATAAATTTAATGTGATGTCGAAACTGGGCGTCAGTTCTGACGCAGGGTTGTTGGAGGCCGCAGATATTCTGTTATGTATGCGGCATTGCGAAACAAGTAATGTGTTGCATCCCTATTAATCCGCATGATGCCGGGTTTAC > NC_000913_3_hsa_tpiA/4604563‑4604840 |
| 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: ‑ |