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%	44.6 / NA	17	T18I (ACC→ATC)	insH1	IS5 transposase and trans‑activator
Reads supporting (aligned to +/- strand):  ref base G (0/0);  new base A (5/12);  total (5/12)

GCGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCA  >  NC_000913_3_hsa_tpiA/275001‑275199                                                                 |                                                                                                                                       gCGGGACAAGAAATTGTCTTTTCTGGTCTGACGGCGCTTACTGATGAGTTGACTGTCGGCGAAGATAAGTTGATGACTCATGATGAGCCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCg                                                   <  2:500467/150‑1 (MQ=11)        aaaaaaaTCTCTTTGCTGGTCTGACGGCGCTTACTGCTGCATTCACTGTCTGCGAAGATAAGTTGATGACTCATGATGACCCCTGTTCTATGGCTCCAGATGACAAACATGGTCTCATATCAGGGACGTGTTCGCACCTTCCGGAGGCGt                                            <  2:89807/147‑1 (MQ=11)        aaGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGGCTTGTTCGCACCTTCCGGAGGCGt                                            >  1:326637/1‑150 (MQ=25)             aaTCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGa                                       <  2:342944/150‑1 (MQ=255)                  ctTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTgg                                  <  1:658840/150‑1 (MQ=255)                          gTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAg                                      <  1:316639/138‑1 (MQ=255)                          gTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAg                                      >  2:316639/1‑138 (MQ=255)                               aCGGCGCTTACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGt                     >  2:647672/1‑150 (MQ=255)                                 ggCGCTTACTGCTGAATTCACTGTCGGCGAGGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATCTCCTAGAATTTTGTGCACCTTCCGGAGACGGTATGAGCTGGCGGCCCTTTTTGtct                   >  1:19013/1‑148 (MQ=17)                                       tACTGCTGAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGatt             <  1:287792/150‑1 (MQ=255)                                          tgctgAATTCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGattatt          <  1:167780/150‑1 (MQ=255)                                                  tCACTGTCGGTGAAGATAAGGTGGTGGCGCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGTACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCa  <  2:469932/150‑1 (MQ=21)                                                  tCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCa  <  1:446782/150‑1 (MQ=255)                                                  tCACTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCa  <  1:446732/150‑1 (MQ=255)                                                  tCACTGGCGCCGAAGATAAGTTGATGACTCATGATGACCCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCa  <  1:200316/150‑1 (MQ=255)                                                    aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAg                                      <  1:422852/112‑1 (MQ=255)                                                    aCTGTCGGCGAAGATAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAg                                      >  2:422852/1‑112 (MQ=255)                                                                 |                                                                                                                                       GCGGGACAAGAAAATCTCTTTTCTGGTCTGACGGCGCTTACTGCTGAATTCACTGTCGGCGAAGGTAAGTTGATGACTCATGATGAACCCTGTTCTATGGCTCCAGATGACAAACATGATCTCATATCAGGGACTTGTTCGCACCTTCCGGAGGCGTTATGAGCTGGCGGCCCTTTTTGTATCTGATTATTAATCCCCA  >  NC_000913_3_hsa_tpiA/275001‑275199

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: ‑