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_tpiA2,679,5250GT97.5% 127.3 / NA 40A1074D (GCT→GAT) yphGDUF4380 domain‑containing TPR repeat protein
Reads supporting (aligned to +/- strand):  ref base G (0/0);  major base T (22/17);  minor base C (0/1);  total (22/18)
Fisher's exact test for biased strand distribution p-value = 4.50e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTG  >  NC_000913_3_hsa_tpiA/2679382‑2679670
                                                                                                                                               |                                                                                                                                                 
ggTTTTTATTAACTACGGCTTATTCTAATTATTTTGTCATGAGCGGGAGCGCGTGCCGCCCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGa                                                                                                                                              <  2:504974/149‑1 (MQ=255)
           acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCTGCTTTCGGCCAATCCGGATTGATCGCCGt                                                                                                                                   >  1:313675/1‑149 (MQ=255)
           acaacGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGt                                                                                                                                   >  2:260925/1‑149 (MQ=255)
                ggCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAAtt                                                                                                                              >  2:590725/1‑149 (MQ=255)
                 gCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTc                                                                                                                             >  1:457084/1‑149 (MQ=255)
                      ttCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgcgc                                                                                                                        <  1:449256/149‑1 (MQ=255)
                        cTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgc                                                                                                                          >  1:267972/1‑145 (MQ=255)
                        cTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAgc                                                                                                                          <  2:267972/145‑1 (MQ=255)
                            ttattTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAg                                                                                                                  >  1:104851/1‑149 (MQ=255)
                               ttttGTCATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACt                                                                                                               <  1:109368/149‑1 (MQ=255)
                                   gtgATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCata                                                                                                           <  1:538968/149‑1 (MQ=255)
                                          gCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCa                                                                                                    >  2:293750/1‑149 (MQ=255)
                                             gCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAcc                                                                                                 >  2:480745/1‑149 (MQ=255)
                                             gCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAAcc                                                                                                 >  1:279697/1‑149 (MQ=255)
                                                 gcgctGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTccc                                                                                             >  2:366649/5‑149 (MQ=255)
                                                 agcgTGCCGCTCAAATAGTACAGTTAATAGGGTTCAGTGAACGCGACTAAAAATAAAAGGCATCACGGATCGGAATAAAGCCGCTTTCAGCCAATCCGGATTAATTGCCGTAAATTAAGCACGATCAGCCGCAAATAACGCaaaccacc                                                                                             >  2:171184/2‑143 (MQ=255)
                                                           tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCAAATTGCGCACCCTCCCCGAGTCCcgc                                                                                   >  2:9539/1‑149 (MQ=255)
                                                           tCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCAGGATTAATCACCGTCAATTCAGCGCGAGCAGACTCATATTGAGCACCCTCCACGAGTCCcgc                                                                                   >  2:400696/1‑149 (MQ=255)
                                                                   tACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCa                                                                           <  2:104851/149‑1 (MQ=255)
                                                                       gTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCAt                                                                       <  1:307930/149‑1 (MQ=255)
                                                                        ttAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc                                                                      <  1:293750/149‑1 (MQ=255)
                                                                        ttAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATc                                                                      <  2:279697/149‑1 (MQ=255)
                                                                            tAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGcca                                                                  >  1:3250/1‑149 (MQ=255)
                                                                                 tttAGTGAACGCTGTTAAAAATAAAGGGCATCACGGTGGTGAATAATGCTGCTTTCGGACAATCCGGATTAATCGCCGGCAATTCATCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATc                                                             <  2:677970/149‑1 (MQ=255)
                                                                                 ctaagcaaaCGCGATTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAACCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCAGAGTCCCGCGGACGCCAGCATCGCCACCATc                                                             <  2:313675/142‑1 (MQ=255)
                                                                                   tAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAg                                                           <  1:260925/149‑1 (MQ=255)
                                                                                      tGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCa                                                        <  2:244188/149‑1 (MQ=255)
                                                                                            cgGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGTGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTc                                                  <  1:480745/149‑1 (MQ=255)
                                                                                                   aaaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGGAACTTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAAGCATTTTTCTTTAtgc                                           >  1:429627/1‑149 (MQ=255)
                                                                                                    aaTAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTAtgct                                          >  2:482404/1‑149 (MQ=255)
                                                                                                          aGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTgttgtt                                    <  1:366649/149‑1 (MQ=255)
                                                                                                           ggCATCACGGTGGTGAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCtgttg                                   <  2:3250/149‑1 (MQ=255)
                                                                                                                 aCGTTGGTGAATAATGCCGCTTTCGTCCAATCCGGTTTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATc                             <  1:51811/149‑1 (MQ=255)
                                                                                                                     tggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCa                         >  1:493256/1‑149 (MQ=255)
                                                                                                                     tggtgAATAATGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCa                         >  1:626901/1‑149 (MQ=255)
                                                                                                                        tgAATAATGCCGCTTTCGGCCAATCAGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCACAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCACCAGGCATTTTTCTTTATGCTGCCGTTGTCAATCGCCATAc                      >  2:203029/1‑149 (MQ=255)
                                                                                                                              atGCCGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGAGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATAAGGCATTTTTCTTTATGTTGCTGTTGTAAATAGCCATAAAGCAac                >  1:479159/1‑149 (MQ=255)
                                                                                                                                 ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGc                                                                    >  2:202076/1‑94 (MQ=255)
                                                                                                                                 ccGCTTTCGGCCAATCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGc                                                                    <  1:202076/94‑1 (MQ=255)
                                                                                                                                            cAATCCGGATTAATCGCCGCCAATTCAGCGCGAGCACACTCATATTGCGCAACCTCCCAGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGTTGCTTTTCTAAATCGCCCTACAGCGACAACCAATCAGGTTg  >  2:157862/1‑149 (MQ=255)
                                                                                                                                               |                                                                                                                                                 
GGTTTTTATTAACAACGGCTTATTCTAATTATTTTGTGATGAGCGGCAGCGCGTGCCGCTCAAATATTACAGTTAATAGGGTTTAGTGAACGCGGTTAAAAATAAAAGGCATCACGGTGGTGAATAATGCCGCTTTCGGCCAAGCCGGATTAATCGCCGTCAATTCAGCGCGAGCAGACTCATATTGCGCAACCTCCCCGAGTCCCGCGGACGCCAGCATCGCCACCATCAGGCATTTTTCTTTATGCTGCTGTTGTAAATCGCCATACAGCGACAACAAGTCAGGTTG  >  NC_000913_3_hsa_tpiA/2679382‑2679670

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: ‑