| 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 | 95.6% | 117.4 / ‑0.1 | 45 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (2/0); new base C (18/25); total (20/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.92e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| * | NC_000913_3_hsa_pgi | 4,296,408 | 2 | . | G | 95.6% | 118.2 / ‑0.0 | 45 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (2/0); new base G (18/25); total (20/25) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 1.92e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.98e-01 | |||||||||||
GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_pgi/4296322‑4296547 || gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc < 1:112010/149‑1 (MQ=2)gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc < 1:234375/149‑1 (MQ=2) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCg > 1:1113320/1‑149 (MQ=12) gACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGC‑ATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGt > 2:666627/1‑149 (MQ=11) gCTTACCGCGTCTTATCAGCCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:722287/149‑1 (MQ=11) cTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGCTGCG‑ACGCTTGCGGCGTCTTCTCAGGCCTATCTTAACCGTTgg > 2:574720/1‑149 (MQ=11) cTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTAACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTgg < 1:861977/149‑1 (MQ=255) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTCACGC‑‑C‑GCATCCGACATCGATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGt > 1:1042512/1‑149 (MQ=11) cgcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAt < 1:1093613/149‑1 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGGTTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAtt > 2:1120367/1‑149 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa < 1:852150/149‑1 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CG‑CAGCATACGACATAAATGCATGATGCG‑ACGCTTGCAGCGTCTTTTCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa > 2:409083/1‑149 (MQ=14) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc < 2:284211/149‑1 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc > 1:760367/1‑149 (MQ=255) tCAGGCCTACGCCAGACAGCGCAATAGACTGGATACACTTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAAc > 1:1120354/1‑149 (MQ=14) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc > 1:682226/1‑149 (MQ=255) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct < 1:105121/149‑1 (MQ=255) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCGGACATCAATGCCTGATGTGCACGGGTGGCG‑TTCTTTTCAGGTCTATCTTAACCGTTGGTTAATTTTTTAATCTCtt > 1:603604/1‑149 (MQ=14) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt > 2:392062/1‑149 (MQ=255) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTc < 2:950676/149‑1 (MQ=255) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca > 1:265214/1‑149 (MQ=255) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 1:718820/149‑1 (MQ=255) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTC‑‑CGAC‑GTACCCGCCATCGTTGCCTTATGCG‑ACGCTTGCCGCGTCTTATCCGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTcac > 2:1031790/1‑149 (MQ=17) cagccagcGGACTCGCCTTATGTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGTCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg < 1:385317/149‑1 (MQ=17) cagccagcGCAATAGCCTGATTTAGCGTGATTTTGTAGGGCGGAGAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCTTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCg < 1:421588/149‑1 (MQ=17) aGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCgg > 1:660373/1‑149 (MQ=255) aGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGACTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCgg < 1:285495/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:1028704/149‑1 (MQ=255) gcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:349741/149‑1 (MQ=255) gcAAGAGTCTGATTTAGCGTGATTTTGGTGGGCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaaa < 1:347548/149‑1 (MQ=18) aaTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAcc > 1:1039939/1‑149 (MQ=255) aGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 2:265214/149‑1 (MQ=255) aGCCCGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCtt < 1:296558/149‑1 (MQ=255) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 1:1069388/149‑1 (MQ=255) cTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa < 2:1120354/149‑1 (MQ=255) atGATTTAGCGTGATCTTGTAGGTCGGGTAAGGCCTTTACGC‑‑C‑GCACCCGCCATCAATGCCTGATGCG‑ACGCTTGCCGTGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCa < 2:261415/148‑1 (MQ=21) tGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTACCCGTTGGTTCATTTTTCAAACTCTTCACACCCGGTATCAACCCCTTCCAt > 2:892643/1‑149 (MQ=18) tGATTTAGCGTGATTTTGTAGGTCGGATAACGTGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTTCAt > 2:1093350/1‑149 (MQ=21) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 1:507312/149‑1 (MQ=255) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 2:939985/149‑1 (MQ=255) tAGCGTGATTCTGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGc < 1:789729/149‑1 (MQ=255) tttGTAGGTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTACCAAACCCTTCCATACCGCTCAGGttta > 1:280565/1‑147 (MQ=21) gTCGGATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCATACCCTTCACACCCGGTATCAAACGCTACCAACCAGCTCAGGTTCCACCCGTg > 1:574908/1‑149 (MQ=21) gATAAGGCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgc < 1:251035/149‑1 (MQ=255) ggCGTTTACGC‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATGTTAACCGTTGGTTAATATTTCAAGCTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCATCACGTGCAGCGCCtt > 2:977924/1‑149 (MQ=25) || GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑C‑GCATCCGACATCAATGCCTGATGCG‑ACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_pgi/4296322‑4296547 |
| 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: ‑ |