Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 4,392,466 C→G noncoding (13/76 nt) glyX → tRNA‑Gly

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA4,392,4660CG80.0% 114.0 / 18.0 56noncoding (13/76 nt)glyXtRNA‑Gly
Reads supporting (aligned to +/- strand):  ref base C (7/4);  new base G (17/27);  total (25/31)
Fisher's exact test for biased strand distribution p-value = 1.80e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GAAAGCAAAATTAAGTAGTACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGG  >  NC_000913_3_hsa_tpiA/4392321‑4392609
                                                                                                                                                 |                                                                                                                                               
gAAAGCAAAATTAAGTAGTACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGt                                                                                                                                              >  1:807851/1‑149 (MQ=255)
   aGCAAAATTAAGTAGTACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTATCGTCCTCCTGAATTTGAAAAGTGCTGCAAAGCACAGACCACCCACGCGGGAATAGCTGAGTTgg                                                                                                                                           >  1:770538/1‑149 (MQ=17)
     cAAAATTAAGTAGTACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTa                                                                                                                                         <  1:85501/149‑1 (MQ=255)
        aaTTAAGTAGTACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGAACTGCATAGCCCCAACCACCCAAGCCGAAATGCCCCAGTTGGTagag                                                                                                                                      >  2:13853/1‑149 (MQ=17)
             agtagtACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCGTGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGa                                                                                                                                 <  1:511175/149‑1 (MQ=255)
                      cgGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCaa                                                                                                                        <  1:53515/149‑1 (MQ=255)
                             aGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCggg                                                                                                                 <  1:854325/149‑1 (MQ=255)
                              gCTCAGGTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTTTCGTTTCCGGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCgggg                                                                                                                <  2:818220/149‑1 (MQ=255)
                                  aGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTcgc                                                                                                            <  1:318902/149‑1 (MQ=255)
                                    ttGGTAGAGCCCGACCTTGCCAAGGTCGGGGGCGCGAGTTAGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGa                                                                                                          <  1:60733/149‑1 (MQ=255)
                                    ttGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAAATTGAAACGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTGGAGCACAACCTTGCCAAGGTCGGGGTAGCGa                                                                                                          >  1:672877/1‑149 (MQ=11)
                                       gTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGtt                                                                                                       >  1:802611/1‑149 (MQ=255)
                                          gagCACGACCTTGCCAAGGTCGGGTTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGa                                                                                                    <  1:853478/149‑1 (MQ=255)
                                                   cgtGCTAAGGGCGTGTTCGCGAGTTCGAGTCTCGGTTCCCGCTCCAAAATTTGAAAAGTTCTGCAGAGCACAGACCTCCCAGGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGttt                                                                                           <  2:766635/147‑1 (MQ=14)
                                                   cTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGATTAGCTGAGTTGGTAGAGCACGACCTTGGCAAGGTCgtg                                                                                                                 <  2:446024/127‑3 (MQ=255)
                                                   cTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGGCAAGGTCgtg                                                                                                                 >  1:446024/1‑125 (MQ=255)
                                                   cTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGttt                                                                                           <  1:684952/149‑1 (MQ=255)
                                                    ttGCCAAGGTCGGGGCCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTc                                                                                          <  1:69825/149‑1 (MQ=255)
                                                     tGCCAAGGTCGGGACCCCGAGTTCGAGTCTCTTTTCCCGCTCCAAAATTTGAAAAGTGCTGAAAAGAACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTcc                                                                                         <  2:807851/149‑1 (MQ=11)
                                                      gCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAATACTGCAGAGCCCAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCCCGTCCTTGCCACGGGCGGGAGCGCGAGTTCGAGGCTCGttccgc                                                                                        >  1:368994/1‑145 (MQ=14)
                                                        cAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAGAGCACAAACCACCCAAGCGGGAATAGCAAAGTTGGTAGGGCACGACATTGCCAAGGTCCGGGTCGCGAGTTCGAGGGTCGtcgccccc                                                                                      >  2:325644/1‑142 (MQ=14)
                                                                   tCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGGGTTCGAGTCTCGTTTCCCGCTCCAAAATTTg                                                                           >  1:521883/1‑149 (MQ=255)
                                                                   tCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTccc                                                                                        >  1:263569/1‑136 (MQ=255)
                                                                   tCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTccc                                                                                        <  2:263569/136‑1 (MQ=40)
                                                                          ttCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCTGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGCCGCGAGTTCGAGTCTCGTTTCCCGCCCCAACATTTGAAAgcgc                                                                    >  2:515628/1‑149 (MQ=14)
                                                                           tCGCGTCTCGTTTCCCGCTCCAAAATGTGAAAAGTGCGGCAAAGCACAGACCACGCACGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCt                                                                   <  2:394559/149‑1 (MQ=17)
                                                                             gggTCTCGGTTCCCGCTCAAAAATTTGAAAATTGCGGCAAAGAACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGt                                                                 <  2:43340/147‑1 (MQ=17)
                                                                                   cGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGca                                                           <  1:799126/149‑1 (MQ=255)
                                                                                         ccGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGt                                                                                                                                              >  2:403022/1‑60 (MQ=255)
                                                                                         ccGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGt                                                                                                                                              <  1:403022/60‑1 (MQ=255)
                                                                                         ccGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCCCTCCAAAATTTGAAAGTGCTATAAGGTACAGacc                                                     >  1:658440/1‑149 (MQ=255)
                                                                                          cGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGacca                                                    >  1:650995/1‑149 (MQ=255)
                                                                                          cGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGacca                                                    >  1:1044159/1‑149 (MQ=255)
                                                                                                  aagttGAAAAGTGCTCCAAAGCACAGACCGCCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGAGCACCCAAGCg                                            <  1:1021126/146‑1 (MQ=18)
                                                                                                   tttagAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGCCCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGTTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCgg                                           <  1:325644/145‑1 (MQ=255)
                                                                                                      ggAAAAGTGCTACAAAGAACAGAGCACCCAGCCGGGAATAGCTCAGTTGGTAGAGCACGCCTTGGCCAAGGTCGGGGTCGCGAGTTCGCGCCCGGTTCCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGaa                                        <  1:140165/148‑1 (MQ=17)
                                                                                                        aaaaGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCCCAGACCACCCAAACGCGAATa                                      >  2:747441/1‑149 (MQ=255)
                                                                                                          aaGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCaaa                                                                                <  2:194465/105‑1 (MQ=25)
                                                                                                          aaGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCaaa                                                                                >  1:194465/1‑105 (MQ=255)
                                                                                                           aGTGCCGAAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCt                                   <  2:327805/149‑1 (MQ=255)
                                                                                                             tgctgcAAAGAACAGACCACCCAAGCGGGAATAGTTCAGTTGGTAGAGCACGACCTTCCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCa                                 <  1:993810/149‑1 (MQ=255)
                                                                                                                 gcAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGa                                                                                                                                 >  2:154119/1‑49 (MQ=255)
                                                                                                                  cAAAGCACAGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCTCAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCCCAGTTgg                            >  1:1025877/1‑149 (MQ=255)
                                                                                                                    aaGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGa                                                                                                    >  2:582633/1‑75 (MQ=32)
                                                                                                                      ggacaGGCTACCCAGGCGGGAATAGGTGAGTTGGTAGGGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTaga                        <  2:99614/147‑1 (MQ=14)
                                                                                                                          agcccccccACGCGGGCATCGCTGAGTTGGGAGAGCACGCCCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAATTTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCAc                    <  1:297588/143‑1 (MQ=14)
                                                                                                                          aGACCACCCAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCAc                    >  1:1013664/1‑149 (MQ=255)
                                                                                                                           gACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCCGGCGGGAATAGGTCGGTTGGTAGAGCACg                   >  1:866236/1‑149 (MQ=255)
                                                                                                                                cccAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAgg                                                             >  1:293817/1‑102 (MQ=255)
                                                                                                                                cccAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAgg                                                             <  2:293817/102‑1 (MQ=255)
                                                                                                                                 ccAAGCGGGAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTg             >  1:443356/1‑149 (MQ=255)
                                                                                                                                      cGGGAGTTGCTGAGTTGTTAGAGCACGGCCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAg        <  2:521883/149‑1 (MQ=11)
                                                                                                                                        ggAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGAc                 <  2:7183/138‑1 (MQ=255)
                                                                                                                                        ggAATAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGAc                 >  1:7183/1‑138 (MQ=255)
                                                                                                                                           aTAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCgg   <  1:447942/149‑1 (MQ=255)
                                                                                                                                            tAGCTGAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGGCAAGGTCgtg  <  2:443356/149‑3 (MQ=255)
                                                                                                                                                 |                                                                                                                                               
GAAAGCAAAATTAAGTAGTACGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAAGTGCTGCAAAGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGGGTCGCGAGTTCGAGTCTCGTTTCCCGCTCCAAAATTTGAAAGTGCTGTAAGGCACAGACCACCCAAGCGGGAATAGCTCAGTTGGTAGAGCACGACCTTGCCAAGGTCGGG  >  NC_000913_3_hsa_tpiA/4392321‑4392609

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: ‑