| 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 | 96.2% | 65.3 / NA | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/0); major base C (15/10); minor base G (0/1); total (16/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.23e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
| * | NC_000913_3_hsa_tpiA | 4,296,362 | 2 | . | G | 96.2% | 67.6 / NA | 27 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (1/0); major base G (15/10); minor base C (0/1); total (16/11) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 4.23e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296276‑4296501 || gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc < 1:326744/149‑1 (MQ=2)gCGACGCCTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCCATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc < 1:71604/149‑1 (MQ=1) aCGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTCGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGt > 2:860605/1‑149 (MQ=255) gCTTGACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 1:493978/149‑1 (MQ=255) cTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTgg > 1:608890/1‑149 (MQ=255) tAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGtt > 1:805207/1‑149 (MQ=255) tCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttttt > 1:320899/1‑149 (MQ=255) aTCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCaaa > 1:589747/1‑149 (MQ=255) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc > 2:707634/1‑149 (MQ=255) gCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCtt < 2:335061/149‑1 (MQ=255) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCCTGCCGCGTCTTAGCAGGCCTATCTTAACCGTTGGTGAATTTGTCCGACTCTTCACccccc > 1:286006/1‑148 (MQ=14) cgcAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCaa > 1:18973/1‑149 (MQ=255) cAATCGCCTGTTTTGGCGTGATTTTGTAGGTTGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTGTTCATACTCTTCACACCCGGTATCAAAc < 1:220051/149‑1 (MQ=18) gCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTAGGC‑‑CGCCACCGTCATCAGTGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTc < 2:190795/149‑1 (MQ=21) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTCTCACACCCTTcc > 2:68837/1‑149 (MQ=18) gATTTAGCGTGATTTTGTAGGTCGGATAAGGCCTGTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATa < 2:58380/149‑1 (MQ=21) agttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAAAACCGGATGCGACGCTTGCGGCGTCTTATCAAGCCTATCTTAACCGTTGGTTAATTTTTCAAACCATTCACACCCGATATCAAACCCATCCAAAc > 2:25246/3‑149 (MQ=17) tttAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa > 2:575784/1‑149 (MQ=255) cGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑CGACGGATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGGATCAAACCCTTCCATACGGCTCa > 2:283010/1‑149 (MQ=21) tttGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTCTCAAACCCTTCCATAAGACTCATGTTCa > 2:142862/1‑149 (MQ=21) ttgttgGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa < 2:59939/149‑1 (MQ=255) ttGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa > 1:491655/1‑149 (MQ=255) tGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 2:589747/149‑1 (MQ=255) tAGGTCGGATAAGGCCTTTACCC‑‑CGCATCCGACATCAATGCCTGATGCCACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 1:170025/149‑1 (MQ=37) gATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCGGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAgc > 1:87353/1‑149 (MQ=255) aTAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCCTACAGCTCAGGTTCAACCAGTACAgcg > 2:90414/1‑149 (MQ=37) ggCGTTTACGC‑‑CGCCTCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt < 1:321486/149‑1 (MQ=255) || GCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296276‑4296501 |
| 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: ‑ |