Read alignment evidence... | |||||||||||
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seq id | position | ref | new | freq | score (cons/poly) | reads | annotation | genes | product | ||
* | NC_000913_3_hsa_pgi | 4,296,088 | 0 | C | T | 33.9% | 42.4 / 46.1 | 58 | intergenic (+266/+376) | gltP/yjcO | glutamate/aspartate:proton symporter/Sel1 family TPR‑like repeat protein |
Reads supporting (aligned to +/- strand): ref base C (20/17); new base T (14/5); total (36/22) | |||||||||||
Fisher's exact test for biased strand distribution p-value = 2.48e-01 | |||||||||||
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 2.00e-01 | |||||||||||
Rejected as consensus: Frequency below/above cutoff threshold. |
CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCC > NC_000913_3_hsa_pgi/4295942‑4296235 | cGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGc < 1:1069441/149‑1 (MQ=17) ggATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCATGATATAGCGGGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGcc > 1:1064467/1‑149 (MQ=255) gATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCt < 1:631431/149‑1 (MQ=32) aTAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCACCGCCTg > 2:1029894/1‑149 (MQ=17) aaGGCGTTTATGCCGCATCCGACATAAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCACACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCAGAt > 1:461516/1‑149 (MQ=12) ggCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGc > 2:306376/1‑149 (MQ=17) gCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAAAAGCGTGATTTAGCGTGATTTTGTCGGTCGGATAAGGCGTTTACGCCGCAGCCGACATCACAGCCTggggct > 2:120109/1‑144 (MQ=11) aTGCCGCATCCGACCTCAACGCCTGATGCGACGCTTAACGCGTCTTATCATGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTTGTTCGGATAATGCTTTTACGCCGGATCCGACATCAACGCCTGATGCGACGCtt < 2:769789/149‑1 (MQ=11) aTGCCGCATCCGACATCAACGCCTGATGCGACGCTTCACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCtt < 2:600280/149‑1 (MQ=17) gCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCATGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGc < 1:931347/149‑1 (MQ=18) cGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCCGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGAGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCcg > 1:838195/1‑149 (MQ=255) cGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGGCATCAATGCCTGATGCGACGCTTGCcg > 2:5590/1‑149 (MQ=25) ccGACATCACCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGGCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCt < 2:1237844/149‑1 (MQ=255) ccGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCt < 1:309503/149‑1 (MQ=25) ccGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCt > 2:309503/1‑149 (MQ=25) cGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCtt > 1:110459/1‑149 (MQ=25) cGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCtt > 2:193393/1‑149 (MQ=37) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc > 1:568137/1‑149 (MQ=25) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc > 1:768053/1‑149 (MQ=25) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc > 2:899185/1‑149 (MQ=25) aaCGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGAGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGc > 2:325878/1‑149 (MQ=25) ttGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGTCAGCGCAATCCCCTGATTTAGCGTGTTTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc < 1:1233943/148‑3 (MQ=11) cTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTatc > 2:215789/1‑147 (MQ=18) cTGATAAGACGCGTTAAGCGTCGCATAAGTACTACTCCAGACACCGCAATAGCCTCATTTATCTTGATATTTTAGGTAGGATAAGGCGTTTACGCCGCATCAGACATAAATACATGATGCGACGCTTGACTCGACTAATCAGGCATaaa > 2:539640/1‑147 (MQ=255) tGATGCGACGCTTAACGCGTCTTATCAGGCCTACGACAGACAGCGCAATAGCCTGATTTAGCGTGATTTTTTAGGTCGGATAAGGCGTTTACGACGCATACGACATCAACGCCTTATTCTACGATAGCAGCGACTTATCAGGCATagcg > 2:595674/1‑146 (MQ=11) gATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCTCAAAAGCCTGATGTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCCCATCCGAAATCAATGCCAGAAGCGACGGTTGCCGCTGCTTATCAGGccaagcta > 2:1233943/1‑143 (MQ=11) gattAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATCGACTGATTTAGCGTGATTTTGTAGGGCGGCTAAGGCGTTTACGCCGCATCCGACAGCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAgcg < 2:945463/147‑1 (MQ=11) gCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAgcg < 1:56284/149‑1 (MQ=37) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCTGATGCGACGCTTGCcgc < 2:470220/120‑1 (MQ=37) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCcgc > 1:470220/1‑120 (MQ=38) ttAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGAGAAGGCGTTTACGCCGCATCCTACATCAAAGCCTGATGCGACGCTTGCCGCGGCTTATCAGGCCTACGGCAGagcgggct > 2:74282/1‑142 (MQ=11) tCTTATCCGGCCTACGCCAGACAGCGCAATAGCCGGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTg > 1:975757/1‑149 (MQ=255) ccgCCTACGCCAGACAGCCCAACAGTCTTATCCAGCTCGACTTTGTAGCGCGCATCTGGCGTTTACTCCGCTTCCGTCTTCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGc < 2:820571/147‑1 (MQ=11) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCa < 2:521380/111‑1 (MQ=39) ccTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCa > 1:521380/1‑111 (MQ=39) tACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTAAGCCGCATCCGTCATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGACCAATAGCCTGAGTTAGAGTGAt > 2:97941/1‑149 (MQ=11) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCt < 1:676595/78‑1 (MQ=21) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAATGCCt > 2:676595/1‑78 (MQ=21) cAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGt < 1:1029894/149‑1 (MQ=37) cAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGt < 1:573248/149‑1 (MQ=37) aGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGc > 1:857499/1‑124 (MQ=38) gcAATAGCCTTATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGa < 1:486900/149‑1 (MQ=37) aTAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTACCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAg > 1:1159974/1‑127 (MQ=17) tGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTa < 2:530828/84‑1 (MQ=255) tGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTa > 1:530828/1‑84 (MQ=255) gCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCg > 1:596155/1‑149 (MQ=37) gTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGATTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAACCTGATTTAGCGTTATATAGTAGGTCACATAAGGCCTTAATgcagca > 1:853171/1‑149 (MQ=11) gTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGCCAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAAc > 2:138467/1‑149 (MQ=37) gTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAATGCGTTTATGCCGCATCCGACATCAAc > 2:959865/1‑149 (MQ=37) gTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCTTTTATGACGCATCCGCCAAAAACGACAAATGCGaa > 1:1213208/1‑148 (MQ=11) gACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGa > 1:222431/1‑115 (MQ=17) gACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGa < 2:222431/115‑1 (MQ=17) aTCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCa > 2:652976/1‑149 (MQ=34) tCAACGGCTGATGCGACTGTTGCCGGGTCTTAAGATGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAg < 1:97941/149‑1 (MQ=11) cAACGCCTCATCCCACGCCTGCCGCGTCTTATCAGGCCTACGCCCGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATAAGACGCGTTAAGCGTCGCATCAgg < 2:975757/149‑1 (MQ=11) aaCGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGAtt > 2:63615/1‑74 (MQ=34) aaCGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGc < 2:596155/149‑1 (MQ=32) aCGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCTATAGCCGGAGTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGGAGCCGACATCAGCGCGTGATGCGACGCTTAACTCGTCTGAGGAGGcc > 1:663784/1‑149 (MQ=11) | CGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTACGCCGCATCCGACATCAACGCCTGATGCGACGCTTGCCGCGTCTTATCAGGCCTACGCCAGACAGCGCAATAGCCTGATTTAGCGTGATTTTGTAGGTCGGATAAGGCGTTTATGCCGCATCCGACATCAACGCCTGATGCGACGCTTAACGCGTCTTATCAGGCC > NC_000913_3_hsa_pgi/4295942‑4296235 |
Alignment Legend |
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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: ‑ |