| Predicted mutation | |||||||
|---|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | freq | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 1,774,576 | G→A | 100% | G263E (GGG→GAG) | ydiB → | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 1,774,576 | 0 | G | A | 99.5% | 59.5 / ‑7.2 | 24 | G263E (GGG→GAG) | ydiB | quinate/shikimate 5‑dehydrogenase, NAD(P)‑binding |
| Reads supporting (aligned to +/- strand): ref base G (1/0); major base A (11/11); minor base C (0/1); total (12/12) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.96e-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. | |||||||||||
GTTAATGATATCAGTCTGTTACATCCGG‑GACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGG > NC_000913_3_hsa_tpiA/1774437‑1774720 | gTTAATGATATCAGTCTGTTACATCCGGAGAC‑GGTAGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACa > 1:516539/1‑149 (MQ=255) aaTGATATCAGTCTGTTACATCCGG‑GACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGtt < 1:507489/149‑1 (MQ=255) tGTTACATCCGG‑GACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa < 1:524000/147‑1 (MQ=255) tGTTACATCCGG‑GACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGa > 2:524000/1‑147 (MQ=255) gTTACATCCGG‑GACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCCCCTTATGGACTg > 1:252282/1‑149 (MQ=255) tGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACAGTATGGACTGGCAAAGCTTTccatgtg > 1:155888/1‑144 (MQ=255) tCACTTAAGGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGaa < 2:358929/149‑1 (MQ=255) cTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAAGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGATGAACAGTTCACATTATGGACGGGCAAAGATTTCCCTCTGGAatat > 1:64034/1‑149 (MQ=255) tGAATGGGTGTATAACCCGCATATGACGAAGTGATTGCAGAAGGTGCAACAAGCCGGTTGCAAAACGATGGATGGATCCGGCAGGTTGTTGTGTCAAGCGGCTGAACAGTTCACACTATGGACTGGCAAAGATTTCCCTCTGGAATATg < 2:196817/149‑1 (MQ=255) tgtATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAg > 2:129330/1‑149 (MQ=255) cccGCATATGACGAAGTTATTGCAGGAGGCGCAACAAGCCGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTTAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATgg < 1:691839/149‑1 (MQ=255) aaatGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTc < 2:485374/147‑1 (MQ=255) aCGAAGGTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGc < 1:291052/149‑1 (MQ=255) gAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCt > 1:184782/1‑149 (MQ=255) aGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGGCTGa < 2:86808/149‑1 (MQ=255) cagcagGCGCAACAAGCTGGTTGCAAGACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTCAACAGGTCACGGGGTTCGGTGCCTGACAGGCTGa > 2:457058/1‑149 (MQ=255) cagcagGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTCGTTGTGGAAAAAGGCTGAGCCGAACACCTTATGGACAAGCACAAAATACGCTCTGGAGTCTTTTAAACAGGTCAGTGGGTTCTGGGCCTGACAGACTGa > 2:658153/1‑149 (MQ=255) cgcAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTg < 2:516539/149‑1 (MQ=255) aggCTGGTTGCAAAACGATGGATGCAGACGGCAGGTTGTTGTGGCAAGAGGCTGAACAGTTCACATGATGGCCGGGCAACGCTTTCCCTCTGGAATATGTCAAACAGGTCATGGGGTTTGGTGCCTGACAGGCTGACCGCGTGCAGaaa < 2:191849/147‑1 (MQ=255) cTGGTTGCAAAACGATTGATGGCTAAGGGATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGAGCGGCTGACCGCATGAAGAAAggg > 2:324782/1‑149 (MQ=255) aaaCGATTGATGGATACGGCATGTTGTTGTGGCAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATg < 2:690340/149‑1 (MQ=255) ggCATGTTGTTGTGGCAAGGGGCTGAGCGGTTCACGTTGTGGACTGGCAAGGATTTAGTTCTGGCATAGGTGAACGAGGTCATGGGGATCGGTGCCTCAGCGGCTGACACGGTGCAGACAGGGTAAACAATGAAAACCGTAACTGTaaa > 2:452116/1‑149 (MQ=255) ttgttgtGGCAAAACGCTGAAAAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATAGTTTAAACAGGTCATTGGGTTCGGTGCCTGACAGGCTGACCGCTTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGAtct < 2:649857/149‑1 (MQ=255) cAAGAGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTgg > 1:579962/1‑149 (MQ=255) | GTTAATGATATCAGTCTGTTACATCCGG‑GACTTCTGGTCACTGAATGCGTGTATAACCCGCATATGACGAAGTTATTGCAGCAGGCGCAACAAGCTGGTTGCAAAACGATTGATGGATACGGCATGTTGTTGTGGCAAGGGGCTGAACAGTTCACATTATGGACTGGCAAAGATTTCCCTCTGGAATATGTTAAACAGGTCATGGGGTTCGGTGCCTGACAGGCTGACCGCGTGCAGAAAGGGTAAAAAATGAAAACCGTAACTGTAAAAGATCTCGTCATTGG > NC_000913_3_hsa_tpiA/1774437‑1774720 |
| 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: ‑ |