| Predicted mutation | ||||||
|---|---|---|---|---|---|---|
| evidence | seq id | position | mutation | annotation | gene | description |
| RA | NC_000913_3_hsa_pgi | 4,296,409 | +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_pgi | 4,296,408 | 1 | . | C | 94.4% | 134.7 / 4.1 | 55 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (2/1); new base C (23/28); total (26/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.91e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.33e-01 | |||||||||||
| * | NC_000913_3_hsa_pgi | 4,296,408 | 2 | . | G | 94.5% | 137.7 / 4.3 | 55 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (2/1); new base G (24/28); total (26/29) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.98e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 5.07e-01 | |||||||||||
TGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_pgi/4296321‑4296547 || taagACGCGTTAAGCGTCTTATCAGGCCTACGCAAGACAGCGCAATAGCCTGATTAAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑TCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTAGCAGGCCTATCTTaa > 1:1138444/4‑149 (MQ=11) gACGCTTAACGCGTCTTATCCGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCg > 2:1370360/1‑149 (MQ=255) aCGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGt > 1:1526508/1‑149 (MQ=12) ggtttaCGCGTCTTATCAGTCCTACGCCAGACAGCTCAATTGCCTGATTTAGAATGTTTTTGTAGTTCGTTTAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTGATCAGGCCTATCTTAACCGTTg < 1:1462877/144‑1 (MQ=11) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:243470/149‑1 (MQ=255) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGt > 2:1558043/1‑149 (MQ=255) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGt > 1:709049/1‑149 (MQ=255) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑CGCAGCATCCGACATCAATTCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACAGTTGGt > 1:889940/1‑149 (MQ=11) gtttagcgTCGCATCAGGCCTACGCCAGACAGCGCTATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGt > 1:703335/6‑149 (MQ=11) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACA‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa > 1:576090/1‑149 (MQ=255) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa > 1:600788/1‑149 (MQ=255) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa < 1:650752/149‑1 (MQ=255) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa > 1:688355/1‑149 (MQ=255) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa > 1:1465613/1‑149 (MQ=255) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGAGAGTTTGTAGGTCGGATAAGGCGGTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTGGGTTaa > 1:17065/1‑149 (MQ=11) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGATA‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCATGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAta > 2:970322/1‑148 (MQ=11) cTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 1:513149/149‑1 (MQ=255) atATCAGGCCTACGCCAGACAGCGCACTACCCTGATTTAGCGTGATTTTGCAGGTCGGATAACGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCa < 2:94191/148‑1 (MQ=14) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 1:789975/149‑1 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa > 1:379372/1‑149 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTATTCaaa > 1:1013109/1‑149 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc > 1:250472/1‑149 (MQ=255) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct > 1:173888/1‑149 (MQ=255) gCCTACGCCAGACAGCTAAATAGCCTGATTTAGCTTGATTATGTAGGTCGGAGATGGCGTTT‑‑ACGC‑C‑GAATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTTTGAGGCCTATCTTAACCGTTGGTTAATTTTTCTAACTCtt < 1:365192/149‑1 (MQ=14) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 1:383908/149‑1 (MQ=255) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:1553520/149‑1 (MQ=255) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:1414426/149‑1 (MQ=255) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:794216/149‑1 (MQ=255) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 1:1248689/149‑1 (MQ=255) aCGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑AAGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTAAACCGTTGGTTAATTTTTCAAACTCTTcaca > 2:1039800/1‑149 (MQ=255) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg < 2:751139/149‑1 (MQ=255) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATc < 2:730779/149‑1 (MQ=255) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATc < 2:1187363/149‑1 (MQ=255) cgcAATAGCCTGATTTAGCGTGATGTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCAAACCCGGTATCaa > 2:845919/1‑149 (MQ=18) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:456766/149‑1 (MQ=255) aGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCACACTCGTCCACCCCGGTATCAAACCCtt > 2:728007/1‑149 (MQ=17) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTCGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:1246007/149‑1 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCTACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc < 2:324590/149‑1 (MQ=255) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTcc < 1:1343290/149‑1 (MQ=255) atGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAg > 2:279678/2‑149 (MQ=255) tGATTTTGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCACACCCTTCCATACCGCTCAgg > 2:54855/1‑149 (MQ=21) ttttGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTc < 2:379372/149‑1 (MQ=255) ttttGTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTc < 2:703335/149‑1 (MQ=255) ttGTAGGGCGGATCCGGCGGTT‑‑ACGC‑C‑GCATCCGACATCAAGGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa < 2:1625037/149‑1 (MQ=25) gTAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAcc > 1:1400657/1‑149 (MQ=255) tAGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 2:60309/149‑1 (MQ=255) aGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCATGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAg < 2:620155/149‑1 (MQ=255) aGGTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAg < 2:1631270/149‑1 (MQ=255) gTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTACCCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCACGCCCTTCCGTCCAGCGCTGGTTCAACCAGTg > 2:321664/1‑149 (MQ=21) gTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg < 1:1135614/149‑1 (MQ=255) gTCGGATAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTg < 1:977684/149‑1 (MQ=255) ggATAAGGCGTTTACA‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 2:576090/149‑1 (MQ=255) aTAAGGCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACAGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGGTCAGGTTCAACCAGTGCAgcg > 1:925058/1‑149 (MQ=37) ggCGTTT‑‑ACGC‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt > 1:1189497/1‑149 (MQ=255) ggCGTTT‑‑ACGC‑C‑GCATCCGACAGCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt < 2:1127964/149‑1 (MQ=255) || TGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTT‑‑A‑‑C‑C‑GCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_pgi/4296321‑4296547 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 14 ≤ ATCG/ATCG < 15 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 36 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |