Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
RA	NC_000913_3_hsa_tpiA	275,065	G→A	T18I (ACC→ATC)	insH1 ←	IS5 transposase and trans‑activator

Read alignment evidence...
	seq id	position		ref	new	freq	score (cons/poly)	reads	annotation	genes	product
*	NC_000913_3_hsa_tpiA	275,065	0	G	A	100.0%	82.6 / NA	31	T18I (ACC→ATC)	insH1	IS5 transposase and trans‑activator
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (12/19);  total (12/19)

CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA  >  NC_000913_3_hsa_tpiA/275002‑275210                                                                |                                                                                                                                                  cGGGACAAGAAAAGCTCTTTTCTGGTCTGACTGCGCTTACTGTTGAATTAACTGTCGGCGAAGATAAGTGGATGACTCATGATGATCCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCg                                                              <  2:315677/149‑1 (MQ=11)   ggACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGGTGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGa                                                            <  2:425212/149‑1 (MQ=17)    gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCCTGATGAACCCCGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGTAACTTATTCGCACATTCCgtcg                                                           >  2:432636/1‑146 (MQ=11)    gACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAg                                                           >  1:196178/1‑149 (MQ=17)      cAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGc                                                         <  1:149571/149‑1 (MQ=21)        aGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGCGGCGt                                                       >  1:361239/1‑149 (MQ=18)           aaaTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTAt                                                    >  1:353519/1‑149 (MQ=38)           aaaGCTTTTGTCTGGTCCGACGGCGCTTACTGTTGAATTCACTGTCGTCGAAGATAAGTTGATGCCTCATCATGAACCCTGTTCTATGGCTCCAGCTGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTAt                                                    <  2:580886/149‑1 (MQ=11)                  ttttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTgg                                             <  2:196178/149‑1 (MQ=255)                  ttttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTgg                                             <  1:311905/149‑1 (MQ=255)                  ttttCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTgg                                             <  1:500497/149‑1 (MQ=255)                  tttgCTGGTCTGACGGCGCTTACTCCTGAAGTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTgg                                             <  1:342517/149‑1 (MQ=255)                            ggACGGCGCTTACTGCTGAATTCACGGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCtttt                                   <  2:1128711/148‑1 (MQ=255)                                   gcTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGCTGTGCCCTCATCTATGGCTCCAGATGACAAACATTATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCt                            <  1:859106/149‑1 (MQ=18)                                     ttACTGCTGAATTCACTGTCGGCTAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGa                          <  1:1049393/149‑1 (MQ=255)                                     ttACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGa                          <  2:257546/149‑1 (MQ=255)                                     ttACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGa                          <  1:1232097/149‑1 (MQ=255)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGCTGACAAACATGATCTCATATCAGGGACTTGTTCGCCCCTTCCGGAGGCGTTATGAGCTGCCGGCCCTTTTTTTATTTGattat                      >  2:662655/1‑149 (MQ=17)                                         tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattat                      >  1:600157/1‑149 (MQ=255)                                           ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGAttatta                    >  1:876539/1‑149 (MQ=255)                                           ctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGAttatta                    <  1:825457/149‑1 (MQ=255)                                             gAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGACCCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAAt                  <  2:32736/149‑1 (MQ=255)                                             caaTTCACTGTCGGCGAAGAGAAGTTGATGACTCATGATGAACCCTGTTCTACGGCTCCAGATGAAAAACATGATCTCATCTCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAAt                  <  1:582609/148‑1 (MQ=18)                                              aaTTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATc                 >  2:1162761/1‑149 (MQ=255)                                                 tCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATcccc              <  2:353519/149‑1 (MQ=255)                                                 tCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATcccc              >  1:194429/1‑149 (MQ=255)                                                   aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCAc            >  2:1013533/1‑149 (MQ=255)                                                       tCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGACGTTATGAGCTGGCGGACGTTTTTGTATCTGATTCTTAATCCCCACCCGc        >  2:348585/1‑149 (MQ=18)                                                        cGGCGAAGATAAGTTGATGACTCAGGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCt       <  1:215544/149‑1 (MQ=255)                                                           cGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGACGGACCTGTTTGTATCTGATTATTAATCCCCACACGCTAtt    >  1:230219/1‑149 (MQ=21)                                                             aaGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATAAGCGCAGATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTaa  <  1:603442/149‑1 (MQ=25)                                                                |                                                                                                                                                  CGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCACCCGCTATTAA  >  NC_000913_3_hsa_tpiA/275002‑275210

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: ‑