| 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 | 96.3% | 79.7 / ‑3.7 | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); new base C (12/14); total (12/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.97e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 96.3% | 78.6 / ‑3.7 | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); new base G (12/14); total (12/15) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAG > NC_000913_3_hsa_tpiA/4296281‑4296495 || tgctcaCGCGTCTTATCAGGCCCCCGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:432414/144‑1 (MQ=11) ttATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCa > 2:412530/1‑149 (MQ=255) ttATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCa > 1:746715/1‑149 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCgaa > 1:258494/1‑148 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:258494/148‑1 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGCCTAACGCAACGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc > 2:210478/1‑149 (MQ=14) gcccTACGTGAGAGAGCGATATTGGCTGATTTAGGGTGATTGTGTAGGTCGGTTAAGGTGTTGA‑‑CGCCCGATCCGACATCAATGCCTGATGGGACGGTTGTCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAccct < 2:749069/147‑1 (MQ=16) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt > 2:593519/1‑149 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGT‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACAcc > 1:603875/1‑149 (MQ=255) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg < 2:416663/149‑1 (MQ=255) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg > 1:271733/1‑149 (MQ=255) aCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCTCTCCCGGtc > 1:250988/1‑148 (MQ=17) gcgcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCa < 1:349741/149‑1 (MQ=255) cgcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaa < 2:380935/149‑1 (MQ=255) gcAATCGCCTGATTTAGCGTGAGTTTGTACGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:400101/149‑1 (MQ=18) tAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCt < 1:366189/149‑1 (MQ=255) aGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGT‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 2:603875/149‑1 (MQ=255) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:26554/149‑1 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa > 1:853517/1‑149 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa > 1:604412/1‑116 (MQ=255) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:604412/116‑1 (MQ=255) gCGTGATTTTGTAGGTCGGATAAGGCTTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTc < 1:445220/149‑1 (MQ=255) tGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 2:853517/149‑1 (MQ=255) gTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg < 2:770460/149‑1 (MQ=255) gTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGCTTCACCCGGTg > 2:680533/1‑149 (MQ=25) tCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGCCGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTCCACACCCTTCTCACCCGGTATCAAACCCTTCCATACAGCTCCAGTTCAACCAGTGc > 1:271952/1‑149 (MQ=21) ggATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 2:271733/149‑1 (MQ=255) || GCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAG > NC_000913_3_hsa_tpiA/4296281‑4296495 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |