Predicted mutation
evidence seq id position mutation annotation gene description
RA NC_000913_3_hsa_tpiA 2,817,170 C→A E112* (GAA→TAA)  yqaB ← fructose‑1‑P and 6‑phosphogluconate phosphatase

Read alignment evidence...
  seq id position ref new freq score (cons/poly) reads annotation genes product
*NC_000913_3_hsa_tpiA2,817,1700CA93.5% 92.8 / ‑6.2 31E112* (GAA→TAA) yqaBfructose‑1‑P and 6‑phosphogluconate phosphatase
Reads supporting (aligned to +/- strand):  ref base C (0/0);  major base A (12/17);  minor base G (2/0);  total (14/17)
Fisher's exact test for biased strand distribution p-value = 1.96e-01
Kolmogorov-Smirnov test that lower quality scores support variant p-value = 1.00e+00

GGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCAT  >  NC_000913_3_hsa_tpiA/2817028‑2817298
                                                                                                                                              |                                                                                                                                
ggTTGCACGCCCATACGCTGCGCGAACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTccc                                                                                                                            <  2:553092/149‑1 (MQ=255)
 gTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTcccc                                                                                                                           >  1:45484/1‑149 (MQ=255)
      aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCCGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTcc                                                                                                                      >  1:572267/1‑149 (MQ=255)
      aCGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGtttc                                                                                                                      >  1:157135/1‑147 (MQ=255)
        gCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTa                                                                                                                    <  1:345782/149‑1 (MQ=255)
          ccATACGCCGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTGTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACa                                                                                                                  <  2:463809/149‑1 (MQ=255)
                gCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCAACAGCCAtt                                                                                                            >  2:412906/1‑149 (MQ=255)
                         acaacaAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGcgacga                                                                                                   >  1:120212/1‑149 (MQ=255)
                          aaacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCgacgac                                                                                                  <  2:399506/148‑1 (MQ=255)
                           aacaaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATAGGCAGAGACGACGGCGTCAAAATAATGGCGAAATCCGAGGTGCGCCAGCAATGCCGCTGCGATGGCGCTTTGACTCCCCGTTCCTACAGCCATTGGGCGACGAcc                                                                                                 >  1:128120/1‑149 (MQ=255)
                             caaAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCAt                                                                                               <  2:45484/149‑1 (MQ=255)
                              aaaaaTGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATg                                                                                              <  1:70352/149‑1 (MQ=255)
                                          ggCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcac                                                                                  <  1:302994/149‑1 (MQ=255)
                                          ggCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcac                                                                                  <  1:237666/149‑1 (MQ=255)
                                             gcgGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCACCTTTTaaccaa                                                                               >  2:581061/1‑148 (MQ=255)
                                             gcgGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTcaccac                                                                               >  2:431045/1‑149 (MQ=255)
                                                       ggggtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAaga                                                                     <  2:71147/146‑1 (MQ=255)
                                                        gtgtTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAagag                                                                    <  2:480056/149‑1 (MQ=255)
                                                              gACGTGATCGGCAGCGACGACGGCGTCACAATACTGGCGCAACCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCg                                                              <  1:16441/149‑1 (MQ=255)
                                                               aCGTGATCGGCAGCGACGACGGCGACAAAATCATAGCGTAATCCCAGGTGCGCCAGCAATGACTCACCGGTGGGGCTTTGACTCCCCGGTCGTACAGCCATGGGGTGACGGCCATGCGAACTGTTAACCACACAAAAAAGAGGAAGCgg                                                             >  2:218595/1‑149 (MQ=255)
                                                                 gTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGtt                                                           <  1:74261/149‑1 (MQ=255)
                                                                 gTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGAGCCAACAATACCGCAGCGAGGTCTCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGAAAGCGGtt                                                           >  2:2579/1‑149 (MQ=255)
                                                                         cAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGGGAAAGCGGTTCGACGCTa                                                   >  1:46/1‑149 (MQ=255)
                                                                                gacgGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCCTTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCcagca                                            <  1:365133/149‑1 (MQ=255)
                                                                                            attcgcgCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTa                                <  2:307085/143‑1 (MQ=255)
                                                                                                       aTCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGtt                     >  1:47024/1‑149 (MQ=255)
                                                                                                            aGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc                >  2:125117/1‑149 (MQ=255)
                                                                                                            aGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTc                <  1:517768/149‑1 (MQ=255)
                                                                                                                     aGCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTaa       >  1:668127/1‑149 (MQ=255)
                                                                                                                      gCAATGCCTCAGCGATGGCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAAc      <  1:198615/149‑1 (MQ=255)
                                                                                                                          tGCCTCAGCGATGCCGCTTTAACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCAt  <  1:431045/149‑1 (MQ=255)
                                                                                                                                              |                                                                                                                                
GGTTGCACGCCCATACGCTGCGCGCACAACAAAAATGTGTCTGGCGCGGGTTTATGGTGTTTGACGTGATCGGCAGCGACGACGGCGTCAAAATAATGGCGTAATCCCAGGTGCGCCAGCAATGCCTCAGCGATGGCGCTTTCACTCCCCGTTCCTACAGCCATTGGGCGACGACCATGCCAACTTTTCACCACATCAACAAGAGGAAGCGGTTCGACGCTATCCAGCAGCATACTTCTTACTGCTTCTGTTTTTTCACGCGCTAACGCAT  >  NC_000913_3_hsa_tpiA/2817028‑2817298

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: ‑