Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	2,795,396	C→A	Q382K (CAG→AAG)	gabP →	gamma‑aminobutyrate transporter

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	2,795,396	0	C	A	100.0%	106.9 / NA	31	Q382K (CAG→AAG)	gabP	gamma‑aminobutyrate transporter
Reads supporting (aligned to +/- strand):  ref base C (0/0);  new base A (18/13);  total (18/13)

CCCGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAG  >  NC_000913_3_hsa_tpiA/2795251‑2795536                                                                                                                                                  |                                                                                                                                             cccGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGAGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGt                                                                                                                                           >  1:276941/1‑149 (MQ=255)        ggggCGGTGTTACTCTGCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGAt                                                                                                                                    <  2:330911/147‑1 (MQ=255)          tgCGGTGTTACTCACCACCGGCGCGGCAGTCTTATCGGTGGTGGTTAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATgc                                                                                                                                  <  2:144581/148‑1 (MQ=255)                   aCTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTc                                                                                                                         >  1:247349/1‑149 (MQ=255)                      ctcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAAATATTACGCGCCTGCGAAGGTATTTAAATTACTGATCGACAGCTCCGGCACTATCGCCCTGATGGTTTATTTAGTCATCGTCGTTTAAAGGTTGCCGATGCGCATAATTCttc                                                                                                                      >  2:79068/1‑147 (MQ=255)                       tcCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTATCAAAGTTGCGGATGCGCAAAAtagatcg                                                                                                                     >  2:219415/1‑143 (MQ=255)                                         ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGGAGGAAGCGAAAt                                                                                                   >  2:278471/1‑149 (MQ=255)                                         ttAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCCCCGTTTCAAAGTTGCGGATGCGCAAAATTCTACGAGCAGAAGGAAGCAAAAt                                                                                                   >  2:19820/1‑149 (MQ=255)                                                tggtggtgAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTg                                                                                            <  2:237059/149‑1 (MQ=255)                                                        aaCTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTCTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAAtgtg                                                                                    <  1:309214/149‑1 (MQ=255)                                                           tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                 >  2:411666/1‑149 (MQ=255)                                                           tATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCt                                                                                 >  2:40868/1‑149 (MQ=255)                                                               aCGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTAt                                                                             <  1:134283/149‑1 (MQ=255)                                                                 gcgcCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTCTTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAACGAAATTCGCTTGCGAATGTGGCGTTATcc                                                                           >  2:205162/1‑149 (MQ=255)                                                                      tGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGc                                                                      >  1:333317/1‑149 (MQ=255)                                                                              tATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTgg                                                              <  2:333317/149‑1 (MQ=255)                                                                                tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCt                                                            >  1:13125/1‑149 (MQ=255)                                                                                tttAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGATTATTTAGTCATCGCCGTTTCAAAGTTTCGGATGCGCAACATTCTGCGAGCAGAAGGAAGCCAAATTCGCTTGCGAATGTGGCTTGAGCCGTGGCTCACCTGACt                                                            >  1:203696/1‑149 (MQ=255)                                                                                   aaaTTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGt                                                         >  2:209711/1‑149 (MQ=255)                                                                                        tCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCg                                                    <  1:411666/149‑1 (MQ=255)                                                                                          tGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTgg                                                              <  2:173974/137‑1 (MQ=255)                                                                                          tGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTgg                                                              >  1:173974/1‑137 (MQ=255)                                                                                           gATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCt                                                 <  1:260764/149‑1 (MQ=255)                                                                                            aTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCtt                                                <  1:225785/149‑1 (MQ=255)                                                                                            aTCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCtt                                                >  1:73383/1‑149 (MQ=255)                                                                                                   gCTCCGGCGCTTTCGCTCTGTTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGGAGGTAGCGAAATTCGCTTGAGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTTcc                                         <  2:13125/149‑1 (MQ=255)                                                                                                   gCTCCGGCGCAATCGCCCTGCTTGTTGATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTAcc                                         <  2:203696/149‑1 (MQ=255)                                                                                                               tCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTa                             <  2:276941/149‑1 (MQ=255)                                                                                                                    ctgctgGTTTATTTAGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGAt                        >  2:270083/1‑149 (MQ=255)                                                                                                                              atttaGTCATCGCCGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGCATGTGGCTTTATCCGTGGCTCACCTGGATAGTCATCGGCTTTATTACCTTTGGGTTGGAATTGCTCGTATtccgt              >  2:201390/1‑149 (MQ=255)                                                                                                                                          ccGTTTCAAAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCAAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAg  >  2:24389/1‑149 (MQ=255)                                                                                                                                                  |                                                                                                                                             CCCGTACGTGGCGGTGTTACTCTCCACCGGCGCGGCATTCTTAACGGTGGTGGTGAACTATTACGCGCCTGCGAAGGTATTTAAATTTCTGATCGACAGCTCCGGCGCTATCGCCCTGCTGGTTTATTTAGTCATCGCCGTTTCACAGTTGCGGATGCGCAAAATTCTGCGAGCAGAAGGAAGCGAAATTCGCTTGCGAATGTGGCTTTATCCGTGGCTCACCTGGCTAGTCATCGGCTTTATTACCTTTGTGTTGGTAGTGATGCTATTCCGTCCGGCGCAACAG  >  NC_000913_3_hsa_tpiA/2795251‑2795536

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: ‑