| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_tpiA | 4,296,363 | +GC | intergenic (+587/+55) | gltP → / ← yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Read alignment evidence... | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 1 | . | C | 92.6% | 62.9 / ‑0.5 | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/2); new base C (9/16); total (9/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.38e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.94e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 92.6% | 60.6 / ‑0.6 | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/2); new base G (9/16); total (9/18) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.38e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.94e-01 | |||||||||||
GACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296278‑4296501 || gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCg > 1:662913/1‑149 (MQ=12) cGCCTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGtt < 1:39471/149‑1 (MQ=255) gtttAACGCTTCGTATCAGGCCTACGCCAGACAGCGCAAAAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:154041/147‑1 (MQ=11) gCTGAACGCGTCTTATCAGGCCTACGCCAGACAGCGCCATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:637249/149‑1 (MQ=11) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCCATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGACTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACTGTTGGt > 2:810727/1‑149 (MQ=11) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:356936/149‑1 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTGAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTATCaaa < 2:662913/149‑1 (MQ=14) cttACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTc < 1:219865/147‑1 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca > 1:479579/1‑145 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 2:479579/145‑1 (MQ=255) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTGTTATCAGGCCTATCTTAAACGTGGGTTAATTTTTCAAACTCTTCACACCCg > 2:794382/1‑149 (MQ=17) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAACTTTTCAAACTCTTCACACCCg < 1:792228/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTGGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:330213/149‑1 (MQ=255) aagaGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAc < 1:146395/145‑1 (MQ=255) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAc > 2:146395/1‑148 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTCCG‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc < 1:276822/149‑1 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTCCTGCGGCCTATCAAAACCAGGTTACAAATTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc > 2:179289/1‑149 (MQ=14) ccTGATGTAGCGTGGTTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGGCGCTTGCCGCGTCTAATCAGGCATATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc > 2:636782/1‑149 (MQ=21) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTCACCTTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:794382/149‑1 (MQ=18) cGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCGTGGTGCGGGGTTTTGTGCGTGTTTTCAGGCCTGTCTTAATCGTTGTTTAATTTTTCTAACTCTTCACACCAGGTATCAAACCTTTACATACAGCttt > 2:352951/1‑147 (MQ=16) cGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg < 1:77753/145‑1 (MQ=255) cGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAg > 2:77753/1‑145 (MQ=255) gATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑CGGCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 1:565946/149‑1 (MQ=255) gttttTAGCTCGGATAAGGCGTTT‑‑ACGC‑‑CGCACCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCTGCCGCGGGATCAAACCCTTCCATACAGCTCAGGTTc < 2:397141/148‑1 (MQ=21) tGTAGCTCTGAAAAGGCGTAT‑‑ACGC‑‑CCCATCCAACATCAATCCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGATTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 2:677306/149‑1 (MQ=25) ggATAAGGCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 2:610437/149‑1 (MQ=255) ggCGTTT‑‑ACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt < 1:574215/149‑1 (MQ=255) || GACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296278‑4296501 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 13 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |