Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,679,525 G→T A1074D (GCT→GAT)  yphG ← DUF4380 domain‑containing TPR repeat protein

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,679,5250GT98.1% 164.5 / NA 53A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/1);  new base T (23/28);  total (23/30)
Fisher's exact test for biased strand distribution p-value = 1.00e+00
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 9.99e-01

AGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTG  >  NC_000913_3_hsa_tpiA/2679380‑2679670
                                                                                                                                                 |                                                                                                                                                 
aaggTTTTTATTAACAACGGCGTATTCTAATTATTTTGTGATGAGCGGGAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGCTTAAAAATAAAAGGCATCACGGTTGTGAATAATGCCGCTTTCGGCCAATCCg                                                                                                                                                <  2:990860/147‑1 (MQ=255)
aGGGTTTTTGTTAGCAATGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGCTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCg                                                                                                                                                <  2:990955/149‑1 (MQ=255)
  ggTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGa                                                                                                                                              >  2:577278/1‑149 (MQ=255)
   gTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGAt                                                                                                                                             <  1:88479/149‑1 (MQ=255)
                     ttATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAg                                                                                                                           >  1:110262/1‑149 (MQ=255)
                        ttCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgcgc                                                                                                                        >  2:402065/1‑149 (MQ=255)
                          cttattattTTGTGATGAGCGGCAGCGCGTGCCGTTCAATTATTACAGTTAATAGTGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                      <  1:985362/146‑1 (MQ=255)
                          cTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGa                                                                                                                      <  1:646532/149‑1 (MQ=255)
                             attattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCa                                                                                                                   >  2:981043/1‑149 (MQ=255)
                               tattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGTTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGa                                                                                                                 <  2:447409/149‑1 (MQ=255)
                                 ttttGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAgccc                                                                                                               >  2:605496/1‑146 (MQ=255)
                                       gatgaGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAAACCCATAtt                                                                                                         >  2:32413/1‑149 (MQ=255)
                                         tgaacagCAGCGCGTGCCGATCAAAGATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCCCCGTCAATTCAGCGCCAGCAGACTCATATTgc                                                                                                       >  2:1022176/7‑149 (MQ=255)
                                             cGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCaa                                                                                                   <  1:16797/149‑1 (MQ=255)
                                                    gcgTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTcccc                                                                                            >  1:281929/1‑149 (MQ=255)
                                                      gTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGa                                                                                          <  1:1003868/149‑1 (MQ=255)
                                                       tGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCAAg                                                                                         >  2:688661/1‑149 (MQ=255)
                                                          cGCTCAAATATTACAGTTAATAGGGTTTAGTGAAAGCGGTTAAAAATAAAAGGCATCAAGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGACAATTCAACGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTcc                                                                                      >  2:1010905/1‑149 (MQ=255)
                                                             tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGa                                                                                                                 >  1:41441/1‑119 (MQ=255)
                                                             tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGa                                                                                                                 <  2:41441/119‑1 (MQ=255)
                                                                aaTATTACAGTTAAAAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGa                                                                                <  1:402405/149‑1 (MQ=255)
                                                                   atTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGc                                                                             <  1:981043/149‑1 (MQ=255)
                                                                            aaTAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCCGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGc                                                                    >  1:981302/1‑149 (MQ=255)
                                                                            aaTAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGc                                                                    >  2:175221/1‑149 (MQ=255)
                                                                              tAGGGTTTCGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCCGCCAAGCCTGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGcca                                                                  <  1:1034945/149‑1 (MQ=255)
                                                                              tAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGcca                                                                  <  2:284798/149‑1 (MQ=255)
                                                                                 ggTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGccacca                                                               <  1:175221/149‑1 (MQ=255)
                                                                                   tttAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATc                                                             <  2:2729/149‑1 (MQ=255)
                                                                                    ttAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCa                                                            <  1:601071/149‑1 (MQ=255)
                                                                                     tAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAg                                                           <  1:939130/149‑1 (MQ=255)
                                                                                     tAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAAGCATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAg                                                           <  1:319807/149‑1 (MQ=255)
                                                                                        tGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCa                                                        <  1:402065/149‑1 (MQ=255)
                                                                                           aCGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttt                                                     <  2:110262/149‑1 (MQ=255)
                                                                                             gcgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCCGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACAATCAGGCAttttt                                                   >  1:221837/1‑149 (MQ=255)
                                                                                             gcgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCAttttt                                                   >  1:263725/1‑149 (MQ=255)
                                                                                             gcgGGTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTACCCGAATCCCGCGGACGCCAGCATCGCAACAATCAGGCAttttt                                                   >  2:216420/1‑149 (MQ=255)
                                                                                                    aaaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtg                                            <  2:117810/149‑1 (MQ=255)
                                                                                                     caagaaaaGGCATCACCGTCGTGAATAATGCCACCTCCCGCCAACCCGGATTAATCGCCGCCAATTCAGCGCCAGCAGACTCATATTCCGCAACCTCCCCGAGTCCCGCAGACCCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgc                                           <  2:904542/145‑1 (MQ=255)
                                                                                                       aTAAACGGCATCACGGTGGTGAATAATCCCGCTTTCGGCCAATCCGGATTAATCGCCGGCAAGTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCCTCAAGCATTTTTCTTTAtgctg                                         <  1:353820/149‑1 (MQ=255)
                                                                                                       aTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATGAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCACCATCGCCACCATCAGGCATTTTTCATTctgctg                                         >  2:717756/1‑149 (MQ=255)
                                                                                                                               aatGCCGCTTTCGGCCAATCCGGATGAATGGCCGTCGATTCAGAGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGa                 >  1:1044583/1‑149 (MQ=255)
                                                                                                                                  gCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaa              >  1:337439/1‑149 (MQ=255)
                                                                                                                                    cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCTAGCAGACTCATATTGCGCAACCTCCCCGAGTccc                                                                                     <  2:1017699/76‑1 (MQ=255)
                                                                                                                                    cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTccc                                                                                     >  1:1017699/1‑76 (MQ=255)
                                                                                                                                    cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGacaaca            <  2:204391/149‑1 (MQ=255)
                                                                                                                                    cGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGAGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTCCTGTTGTAAATCGCCCTACACCGccaaca            >  2:492648/1‑149 (MQ=255)
                                                                                                                                       tttCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGt         <  2:281929/149‑1 (MQ=255)
                                                                                                                                         tCGGCCAATCCGGATTACTCGCCGTCAGTTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCa       <  1:815671/149‑1 (MQ=255)
                                                                                                                                         tCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCa       <  1:13519/149‑1 (MQ=255)
                                                                                                                                          cGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACCAGTCAg      <  2:337439/149‑1 (MQ=255)
                                                                                                                                            gCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCCACACAAAATCAGGt    >  2:681357/1‑149 (MQ=255)
                                                                                                                                            gCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGGTGTAACTCGCCATACAGCGACACCAAGTCAGGt    >  2:83542/1‑149 (MQ=255)
                                                                                                                                              cAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTg  <  1:998402/149‑1 (MQ=255)
                                                                                                                                                 |                                                                                                                                                 
AGGGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTG  >  NC_000913_3_hsa_tpiA/2679380‑2679670

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: ‑