| 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 | 97.1% | 89.5 / NA | 35 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/1); major base C (12/21); minor base T (0/1); total (12/23) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.00e+00 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 97.1% | 94.3 / ‑3.8 | 35 | 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 (12/22); total (12/23) | |||||||||||
| 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 | |||||||||||
GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCG > NC_000913_3_hsa_tpiA/4296276‑4296497 || gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc < 1:382226/149‑1 (MQ=2) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGGGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGGCTTATCAGGCCTATCTTAACCg > 1:723141/1‑149 (MQ=11) aCGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGt < 2:627995/149‑1 (MQ=11) cGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGtt < 2:142171/149‑1 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt < 1:1005175/149‑1 (MQ=255) cgTCTTATCAGGCCTACGCCAGACAGCGCAATGGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt < 2:345326/149‑1 (MQ=255) gTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtttt < 1:329134/149‑1 (MQ=255) tATCAGGCTTACGCCACACGGCGCAATAGCCTGATTTAGCGTGATATTGTAGGACGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCCATGCATGATCCGTCGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGCTAATTTTTcca > 2:766900/1‑147 (MQ=14) tATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaa < 1:589158/149‑1 (MQ=255) cacAGGCCAACTGCACACAGAGTCATAGCCTGATTTAGCGCGATTTTGTAGGTCGCATAAGGGGTTTA‑‑CGCCCGATCCTACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 2:503618/147‑1 (MQ=14) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGGTTTAGCCTGAGTTTGTAGGTCGGATCAGGCGTATACGC‑CGC‑GTCAGACGTTAATTCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 1:513346/149‑1 (MQ=14) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCATCTTATCAGGCCTATCTTAACCGTTGGTTACTTTTTCcaa > 1:291186/1‑149 (MQ=14) tCAGGTCTACGCCAGAAAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc < 1:191856/149‑1 (MQ=14) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGGGATTTTGTCGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 1:844227/149‑1 (MQ=17) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACGGTTGGTTAATTTTTGAAACTCTTca > 2:814807/1‑149 (MQ=14) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTccc > 1:949706/1‑147 (MQ=255) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATc > 2:565671/1‑149 (MQ=255) gcgcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCa < 1:325004/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:969866/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:256809/149‑1 (MQ=255) tAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCt > 1:830677/1‑149 (MQ=255) tAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCt < 1:452505/149‑1 (MQ=255) gaGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCTTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCt < 2:167563/148‑1 (MQ=255) gcgtGATTTAGCGTGATTTTGTAGGGCGGGTAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:147368/146‑1 (MQ=21) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCCATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc > 2:175072/1‑149 (MQ=255) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:840555/149‑1 (MQ=255) cGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCa > 1:557674/1‑149 (MQ=255) gATTTTGTAGGTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGt < 2:830677/149‑1 (MQ=255) tAGGGCGGACAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 2:817158/149‑1 (MQ=25) ggTCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGt < 1:565671/149‑1 (MQ=255) tCGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTTTCAGTCCTCTCTTAACCGTTGGTTAATTTTTCAAACACTTCACACCCGGTATCAAACCCATCCATACAGCTCAGGTTCAACAATTGc > 1:303706/1‑149 (MQ=25) cGGATAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCa < 1:417404/149‑1 (MQ=255) aTAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 1:435213/141‑1 (MQ=255) aTAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgcg > 2:1038986/1‑149 (MQ=255) aTAAGGCGTTTACGC‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACACTTCCATACAGCACAGGTTCAACCa > 2:435213/1‑141 (MQ=25) || GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑CGC‑ATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCG > NC_000913_3_hsa_tpiA/4296276‑4296497 |
| 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: ‑ |