| 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 | 91.4% | 79.2 / 3.5 | 38 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/3); new base C (11/21); total (12/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.36e-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 | 91.9% | 86.8 / 3.8 | 38 | intergenic (+586/+56) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
| Reads supporting (aligned to +/- strand): ref base . (0/3); new base G (11/23); total (12/26) | |||||||||||
| Fisher's exact test for biased strand distribution p-value = 5.40e-01 | |||||||||||
| Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00 | |||||||||||
ATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296274‑4296501 || aTGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGCTTTTGTAGGTCGGATAAGGAGTTTAATC‑‑ACCACCCTACAGCAAATCCTGATGCGCCGCTTGCCGCGTCTTATCAGGCCTATCTTa > 2:1019077/1‑149 (MQ=11) gCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAAc > 2:693885/1‑149 (MQ=0) cGCTTACCGCGCCTTACCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGtt < 1:535983/149‑1 (MQ=11) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTCTCTTAACCGTTg > 1:389275/1‑149 (MQ=255) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGt < 1:146866/149‑1 (MQ=255) aCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTaa > 1:667071/1‑149 (MQ=255) gcgTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCACGTCTTATCAGGCCTATCTTAATCGTTGGTTAAtt > 1:385286/1‑149 (MQ=11) cggcTTATCAGGCCTAAGTCAGACAGCGCAATCGTCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAAttt < 1:95352/146‑1 (MQ=14) cctATGAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCTACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTc < 2:217661/147‑1 (MQ=14) aGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActc > 1:922112/1‑149 (MQ=255) ggCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct < 2:139642/149‑1 (MQ=255) ggCCTACGCCAGAACGTCGAATAGCCTGATTCAGTGGGATTTTGTAGGTCGGATAAGGCGGTTATGC‑‑CGCATCCGACATCACCGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAActct < 2:247807/149‑1 (MQ=14) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTc < 2:128810/149‑1 (MQ=255) ccaCGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTca < 1:69077/147‑1 (MQ=255) cTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGAATCCGATGTCAATGCCTGATGCGCCGCTTGCCGCGTCTTATCAGGCCTCTCTTAACCGTTGGTTAATTTTTCAGACTCTTcg > 1:148942/1‑148 (MQ=14) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCCAACTCTTcac > 1:568129/1‑149 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg > 1:990203/1‑124 (MQ=255) gCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTg < 2:990203/124‑1 (MQ=255) cAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt < 1:363889/149‑1 (MQ=255) cAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTAt < 1:779672/149‑1 (MQ=255) tAGCCTGATTTAGCGTGATTTTGGAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCt < 1:58845/149‑1 (MQ=255) aGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGGCATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATGTTAACCGTTGGTTAATTTTTCAATCTCTTCACACCCTGTATCAAACCCtt < 1:873186/149‑1 (MQ=18) ccTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATATTTCAAACTCTTCACGCCCGGTATCAAACCCCTcc > 1:627660/1‑149 (MQ=18) aTTTAGCGTGATTTTGTACGTCGCATAAGGCGTTTACGC‑‑CGCAGCCGACATCAATGCCTGATGCGACGGTTGCCGCGTCTTATCAGGCCTATCTAAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGCATCAACACCGTCCactc > 2:355079/1‑146 (MQ=17) tttAGCGTGATTTTGGAGTTCCGATCAGGTGTTAACGC‑‑CGCATCCGACGTAAATCGCGGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACa < 1:518080/149‑1 (MQ=21) cGTGATTTTGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCa < 1:608021/149‑1 (MQ=255) tGATTTTGTAGGTCGGATAAGGCCTTCA‑‑CGACGCATCCCACATCAATGACTGATGTTGTGTGTGCCGTGTCTGATCAGGCCTATCTGAACTGTTTGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAgg < 2:363473/149‑1 (MQ=21) tGATTTTGTAGGGCGGAGAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAgg < 2:729250/149‑1 (MQ=25) tttGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAGTGCCTGTTGTGATGGTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTTACACCCGGTCTGCGACCCTTCCGTCCCGCTCCGGttta > 2:29542/1‑147 (MQ=17) ttGTAGGTCGGATAAGGCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa < 1:481584/149‑1 (MQ=255) ttGTAGGTCGGATAAGGCGTTTACGC‑‑CGCACCCGACATCAATTCCGTATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCaa < 1:991757/149‑1 (MQ=25) tGTAGGTCGGATAAGGCGTTTACGC‑‑CGCACCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 1:821452/149‑1 (MQ=255) ctaaGGTCGGATGAGGCGTTTC‑‑CGGCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTACCAGGCCTATCTTAACCGTTGGTTAATTTTTCAACCTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAAc < 1:499603/146‑1 (MQ=25) tAGGTTGGATAAGGCGTTTATGC‑‑CGCAGCCGACATCAACGCCTGGTGCGACGCTTGCCGCGTCTTAGCAGGCCTATCGTAACCTTTGGTTAATTTTTCTAACTCTTCACACCCGTTATCAAACCCTTCCATACAGCTCAGGTTCAACCa < 2:194404/149‑1 (MQ=21) ggTCGGATAAGGAGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAAACCTTCCATACAGCTCAGGTGCAACCatt < 2:454391/149‑3 (MQ=25) ggTCGAATAAGGCGTTTA‑‑CGACGCAGCCGACATCAATGCATGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGt < 1:531191/149‑1 (MQ=37) ggATAAGGCGGTGACGC‑‑CGCATCCGACATCAAGGCCTGATGCGACGCGTGCCGCGTCTTATCAGGCCTATCTTAGCCGTTGGTTAATTTTGCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAg < 2:294962/149‑1 (MQ=25) ggCGTTTACGC‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCtt < 1:693885/149‑1 (MQ=255) || ATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTA‑‑C‑‑CGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTATCTTAACCGTTGGTTAATTTTTCAAACTCTTCACACCCGGTATCAAACCCTTCCATACAGCTCAGGTTCAACCAGTGCAGCGCCTT > NC_000913_3_hsa_tpiA/4296274‑4296501 |
| Alignment Legend |
|---|
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 8 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 32 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG |
Unaligned base: atcg Masked matching base: atcg Alignment gap: ‑ Deleted base: ‑ |