Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 1,544,022 1 bp→AA coding (39/1389 nt) narU ← nitrate/nitrite transporter

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA1,544,0211.A75.0% 87.2 / 28.3 36coding (40/1389 nt)narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base . (4/5);  new base A (12/15);  total (16/20)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00
*NC_000913_3_hsa_tpiA1,544,0220CA100.0% 112.5 / NA 36L13F (TTG→TTT) narUnitrate/nitrite transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (16/20);  total (16/20)

TGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA  >  NC_000913_3_hsa_tpiA/1543880‑1544170
                                                                                                                                               |||                                                                                                                                                    
tGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTACTTTCTACCAGGCCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaa‑aag                                                                                                                                                <  1:1122245/149‑3 (MQ=255)
  agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaa‑aagat                                                                                                                                              >  2:363985/1‑145 (MQ=255)
  agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTGCCAGTCGCG‑A‑aaa‑aagat                                                                                                                                              >  1:688431/1‑145 (MQ=255)
  agaTTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAATAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑A‑aaa‑aagat                                                                                                                                              <  2:478438/149‑5 (MQ=255)
    aTTAAGGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGAGAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATaa                                                                                                                                             <  2:594397/149‑1 (MQ=255)
       aacgtgaaCTGCGCTAAAGAGCATCCAGACACAGAAGGCAAGAAGTAGACATCTGACTGATATCCAGAGATTTTTTCGAGCAATATGTTTTCCTTTATTTTCCCAGTAGGCCGGATATTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGa                                                                                                                                          <  2:1074738/143‑1 (MQ=255)
                tGCGCTAAATAGCATCCAGACACAGAAGGCACGGAGAAGTCAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AAATACCGACTATTTTtc                                                                                                                                 >  2:814585/1‑149 (MQ=255)
                        aTAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTg                                                                                                                         <  1:822846/149‑1 (MQ=255)
                         tAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGc                                                                                                                        >  2:518729/1‑149 (MQ=255)
                               ccAGACACAAAAGTCAAGAAGTAGACAACGGGCTCATATCCAGAGATTTCTTCGAGCAAGATGGTTTCCTGGATTTTCCCAGAAGTCCGGATTTTCTGGTTTCCAGCCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGcc                                                                                                                  <  1:522937/149‑1 (MQ=255)
                                     acaGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGAAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTg                                                                                                            <  1:391486/149‑1 (MQ=255)
                                      caGAAGGCAAGAAGTAGCCAACTGACTGATATCCAGAGATTTTTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGt                                                                                                           <  1:168413/149‑1 (MQ=255)
                                       aGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCAGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACAATTTTCCTCATTTTTACATGCCatatgttt                                                                                                          >  2:168413/1‑145 (MQ=255)
                                          aGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCt                                                                                                       <  1:450622/149‑1 (MQ=255)
                                              aagaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca                                                                                                   >  2:407626/1‑149 (MQ=255)
                                              aagaaaTATGCAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCACGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTcaca                                                                                                   <  2:616896/149‑1 (MQ=255)
                                               agaagTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACAt                                                                                                  >  1:849726/1‑149 (MQ=255)
                                                       aCAACTAACTGATATCCAGAGATTTCTTCGAGCAATATGCTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCTATTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTACTCACATGCACACAt                                                                                          <  2:932751/149‑1 (MQ=255)
                                                                tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGa                                                                                 >  2:1039409/1‑149 (MQ=255)
                                                                tgaTATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGa                                                                                 <  1:1039409/149‑1 (MQ=255)
                                                                     tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTgg                                                                                       <  1:131911/138‑1 (MQ=255)
                                                                     tCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTgg                                                                                       >  2:131911/1‑138 (MQ=255)
                                                                      ccAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGAACACATTGAGAATGaaaaaaa                                                                           >  1:12852/1‑149 (MQ=255)
                                                                       cAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTATGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTAACATGCACACATAGGTAATGAAAAAAAg                                                                          >  2:807725/1‑149 (MQ=255)
                                                                        agagATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGa                                                                         >  2:82186/1‑149 (MQ=255)
                                                                            ggcgcgtcGAGCAATATGTTTTCCTTTATTTGCCCGTAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaa                                                                     <  1:208027/143‑1 (MQ=255)
                                                                             tttCTGCGAGCAATATTTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACaaaa                                                                    <  1:1046924/149‑1 (MQ=255)
                                                                                               tttCCGTTATTTTCCCGGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAt                                                  <  1:518729/149‑1 (MQ=255)
                                                                                                  ccTGTATGTTCCCAGAAGGCAGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGc                                               <  1:776449/149‑1 (MQ=255)
                                                                                                     ttATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAACCATCGTGATAGATAACACGAGGTAAGGCGCAATAGCCAg                                            <  1:844204/149‑1 (MQ=255)
                                                                                                       aTTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGtt                                          >  1:1052816/1‑149 (MQ=255)
                                                                                                                      cGGATTTTCTGGTTTCCAGTCGCG‑A‑AAAGAGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGAt                           <  2:803305/149‑1 (MQ=255)
                                                                                                                            ttCTGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTGTCATTTTGCAGTGCTAGACTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTg                     >  2:415807/1‑149 (MQ=255)
                                                                                                                               tGGTTTCCATTCGCGAA‑AAA‑AGATAACGACCATTTTTCTCATTTTGCAGGGCCATATTGGTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt                  <  2:59420/149‑1 (MQ=255)
                                                                                                                               tGGTTTCCAGTCGCGAA‑AAA‑AGATAACGACTATTTTTCTCATTGTGAAGTGCCATATTGTTCATCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGGGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGt                  >  2:350895/1‑149 (MQ=255)
                                                                                                                                      cAGTCGCG‑AAAAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAAGAGCCAGTTATTAGAATTAAGGATGACTTGGGTGAAGTGc           >  1:61190/1‑149 (MQ=255)
                                                                                                                                          tcgcgaaaaa‑aGATAACTACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa        <  2:20077/142‑1 (MQ=255)
                                                                                                                                          tcgcgaaaaa‑aGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGa        >  1:179286/8‑149 (MQ=255)
                                                                                                                                            gcgaaaaa‑aGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAtt      >  2:108284/6‑149 (MQ=255)
                                                                                                                                            gcgaaaaa‑aGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAtt      >  1:917919/6‑149 (MQ=255)
                                                                                                                                            gcgaaaaa‑aGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGAtt      >  1:738730/6‑149 (MQ=255)
                                                                                                                                                aaaa‑aGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGaaa  <  1:670319/148‑1 (MQ=255)
                                                                                                                                               |||                                                                                                                                                    
TGAGATTAACGGTAACTGCGCTAAATAGCATCCAGACACAGAAGGCAAGAAGTAGACAACTGACTGATATCCAGAGATTTCTTCGAGCAATATGTTTTCCTTTATTTTCCCAGAAGGCCGGATTTTCTGGTTTCCAGTCGCG‑C‑AAA‑AGATAACGACTATTTTTCTCATTTTGCAGTGCCATATTGTTCCTCACATGCACACATTGGTAATGAAAAAAAGACAAAACACGAGGTAAGGCGCAATAGCCAGTTATTAGAATTAAGGATGAATTGGGTGAAGTGCTGATTGAAA  >  NC_000913_3_hsa_tpiA/1543880‑1544170

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: ‑