Predicted mutation
evidence seq id position mutation freq annotation gene description
RA NC_000913_3_hsa_pgi 1,269,897 T→G 14.3% noncoding (40/66 nt) rdlB → sRNA antisense regulator affects LdrB translation; proposed addiction module in LDR‑B repeat, with toxic peptide LdrB

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_pgi1,269,8970TG14.3% 80.5 / 8.3 40noncoding (40/66 nt)rdlBsRNA antisense regulator affects LdrB translation; proposed addiction module in LDR‑B repeat, with toxic peptide LdrB
Reads supporting (aligned to +/- strand):  ref base T (18/16);  new base G (3/3);  total (21/19)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 4.38e-01

CCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATCTTCACTTCATCCCTGAAATGTTTGC  >  NC_000913_3_hsa_pgi/1269750‑1270045
                                                                                                                                                   |                                                                                                                                                    
ccGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCTCCGTTCTGTTGTCAGGtttt                                                                                                                                                     >  2:624759/1‑149 (MQ=38)
        aTCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTTTGGCTTCAAGTTTTAcccttca                                                                                                                                             >  1:934996/1‑144 (MQ=11)
            gTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGt                                                                                                                                         >  1:676612/1‑149 (MQ=39)
                       tCGTGACAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGTCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGtttt                                                                                                                              <  1:528709/149‑1 (MQ=25)
                         gTGCCAGAAAGTCATGGCAGACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTtct                                                                                                                            <  1:127628/149‑1 (MQ=25)
                                  aatCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTAc                                                                                                                                                   >  2:900884/3‑117 (MQ=14)
                                  aatCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTAc                                                                                                                                                   <  1:900884/115‑1 (MQ=14)
                                                  gcgAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAgg                                                                                                   <  2:83810/149‑1 (MQ=32)
                                                   cgAGCGTCATATAGTCGCCTTGTTGTAATGACAACATTTTGCGGATATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGGTCTGTTGTCAGGTTTTAGCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAggg                                                                                                  <  2:990933/149‑1 (MQ=255)
                                                        gTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTTGCTCTTGAACGGTTGGCAGGTCTTCCCTATCTACGTGAGGGTATATTCTCTTTCCAGCAACCAATGCCACCAGGGATaaa                                                                                             <  2:673830/149‑1 (MQ=11)
                                                        gTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTAAACGTGCGGGGGTTTTATCTTTCCAGCATCCATTGACACCAggggtcat                                                                                             >  1:961995/1‑144 (MQ=11)
                                                                  cgccTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACTTCTCAACGTGCGGCGGTTTTCTCTTTCCAGCAACCACTGCCACCAGAGATAAAGCCCCCGCaa                                                                                   >  1:187363/1‑149 (MQ=255)
                                                                          tgtAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTgcgc                                                                           <  2:83055/149‑1 (MQ=38)
                                                                           gtAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATaaa                                                                                             <  1:741390/130‑1 (MQ=32)
                                                                           gtAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATaaa                                                                                             >  2:741390/1‑130 (MQ=32)
                                                                                                          gtgtCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTCCCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGAtac                                           <  2:781341/149‑1 (MQ=255)
                                                                                                           tgtCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGAtact                                          >  1:591276/1‑149 (MQ=255)
                                                                                                             tCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGcca                                                                                                        <  1:731683/85‑1 (MQ=35)
                                                                                                             tCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGcca                                                                                                        >  2:731683/1‑85 (MQ=35)
                                                                                                               tGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGt                                      >  2:543018/1‑149 (MQ=255)
                                                                                                               tGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATCCCGGCTGGGTGTGGATACTAAGt                                      >  1:923049/1‑149 (MQ=255)
                                                                                                                 gTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGATTGGTGAGGATACTACGttt                                    >  1:156308/1‑147 (MQ=255)
                                                                                                                 gTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCACCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGtct                                    >  1:341229/1‑149 (MQ=255)
                                                                                                                  tttCAAGATTAGCCCCCGTTCTGTTGTCAGGGTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAGTGCCACCAGGGATACAGCCCCCGCAACATTGCGCCTCACCGGATAATTCAGGCTTGGTGTGGATACTACGtctc                                   >  2:503467/1‑149 (MQ=255)
                                                                                                                      aaGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACAATGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAAtt                               >  1:920216/1‑149 (MQ=255)
                                                                                                                        gATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTCGGATGGATACTACTTATCAATTCa                             >  1:101376/1‑149 (MQ=14)
                                                                                                                         aTTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCAt                            <  2:680117/149‑1 (MQ=40)
                                                                                                                              cccccGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGgtg                                                  >  2:445543/1‑122 (MQ=40)
                                                                                                                              cccccGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGgtg                                                  <  1:445543/122‑1 (MQ=40)
                                                                                                                               ccccGTTCTGTTGTCAGGTTGTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTg                                                     <  2:161470/118‑1 (MQ=18)
                                                                                                                               ccccGTTCTGTTGTCAGGTTGTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTg                                                     >  1:161470/1‑118 (MQ=14)
                                                                                                                                cccGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATcttcact                     <  1:958894/149‑1 (MQ=40)
                                                                                                                                  cGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGa                                                                  >  1:175138/1‑102 (MQ=33)
                                                                                                                                  cGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGa                                                                  <  2:175138/102‑1 (MQ=33)
                                                                                                                                         ttgtCAGGTTGTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTgg                                               >  2:248972/1‑114 (MQ=18)
                                                                                                                                         ttgtCAGGTTGTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTgg                                               <  1:248972/114‑1 (MQ=18)
                                                                                                                                         ttgtCAGGTTGTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATc                           >  1:895549/1‑134 (MQ=25)
                                                                                                                                         ttgtCAGGTTGTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATc                           <  2:895549/134‑1 (MQ=37)
                                                                                                                                              aGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATCTTCACTTCATCCCTGAAATg       <  1:607569/149‑1 (MQ=255)
                                                                                                                                               ggTTTTAGCTCTCAATGTGCGGGGTTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGTTGTGGATACTACGTCTCAATTCATCTTCACTTCATCCCTGAAATGt      <  2:982423/149‑1 (MQ=255)
                                                                                                                                                gTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATCTTCACTTCATCCCTGAAATGtt     >  2:933461/1‑149 (MQ=39)
                                                                                                                                                   ttACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATCTTCACTTCATCCCTGAAATGTTTGc  >  2:638133/1‑149 (MQ=38)
                                                                                                                                                   |                                                                                                                                                    
CCGCCAGGATCGGTGCCGCCAGGTCGTGCCAGAAAGTCATGGCAAACTGCGCGAGCGTCATATAGCCGCCTTGTTGTAATGACAACATTTTGCGGCTATTCTTGAAGTGTCTGGTTTCAAGATTAGCCCCCGTTCTGTTGTCAGGTTTTACCTCTCAACGTGCGGGGGTTTTCTCTTTCCAGCAACCAATGCCACCAGGGATAAAGCCCCCGCAACATTGCGCCTCACCGGATAATTCCGGCTTGGTGTGGATACTACGTCTCAATTCATCTTCACTTCATCCCTGAAATGTTTGC  >  NC_000913_3_hsa_pgi/1269750‑1270045

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: