Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
MC JC	NC_000913_3_hsa_tpiA	3,815,859	Δ82 bp		[rph]–[rph]	[rph], [rph]

Missing coverage evidence...
			seq id	start	end	size	←reads	reads→	gene	description
*	*	÷	NC_000913_3_hsa_tpiA	3815859	3815940	82	32 [0]	[0] 32	[rph]–[rph]	[rph],[rph]

New junction evidence
		seq id	position	reads (cov)	reads (cov)	score	skew	freq	annotation	gene	product
*	?	NC_000913_3_hsa_tpiA	= 3815858	0 (0.000)	28 (0.710)	27/266	0.6	100%	pseudogene (24/48 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
	?	NC_000913_3_hsa_tpiA	3815941 =	0 (0.000)					pseudogene (609/669 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

ACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCA  >  NC_000913_3_hsa_tpiA/3815795‑3816086                                                                                                                                                   |                                                                                                                                                  tttaacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGt                                                                                                                                                 >  1:465487‑M2/147‑149 (MQ=255)             ttgctaagcgcaaattcaataaactggcgatgatatggtttcatgccttcgctattcatcttacttttctgcagacaaaaaaaaggcgactcatcagtcgcctgaaaaatcagtttgccagcgcccccttctgcCGTCCCCTGCGCTTc                                                                                                                                     >  1:616673‑M2/135‑149 (MQ=255)                      gcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATgcg                                                                                                                            <  1:383526‑M2/24‑1 (MQ=255)                             aataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgcggccttctgcCGTCCCCTCCACTTCAATGATGCGCCCGTCt                                                                                                                     >  2:397356‑M2/119‑149 (MQ=255)                               ataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaacaggcgcctcatcaatggccttaaaattcagttttacagggccgccttctgcCGTCTCCTGCTCTTCGGTGATGCGCCCGTCTTc                                                                                                                   >  1:28775‑M2/117‑149 (MQ=255)                                taaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCa                                                                                                                                         >  2:46442‑M2/116‑126 (MQ=255)                                taaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCa                                                                                                                                         <  1:46442‑M2/11‑1 (MQ=255)                                         gctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCtt                                                                                                                    >  2:530620‑M2/107‑138 (MQ=255)                                         gctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCtt                                                                                                                    <  1:530620‑M2/32‑1 (MQ=255)                                             agatggtttcatgccttcgctcctcacctgacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGt                                                                                                     <  2:625605‑M2/47‑1 (MQ=255)                                                     tcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATAACTACGTTCATGTCg                                                                                             >  2:612985‑M2/95‑149 (MQ=255)                                                       atgccttcgctccttatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt                                                                                           <  1:390939‑M2/57‑1 (MQ=255)                                                       atgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGt                                                                                           <  1:223737‑M2/57‑1 (MQ=255)                                                           cttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgcctcctgcCGTCCCCAGCACTTCAATTATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTctct                                                                                       >  2:173814‑M2/89‑149 (MQ=255)                                                                ctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGc                                                                                  >  1:372088‑M2/84‑149 (MQ=255)                                                                       acttacttttctacaaacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCCCTGCGGCAGAGTCt                                                                           <  2:528240‑M2/73‑1 (MQ=255)                                                                            cttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAAc                                                                      >  1:428996‑M2/72‑149 (MQ=255)                                                                             ttttctacagacaaaaaaaaggcgactcgtcagtcgccttaaaaaacagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACg                                                                     >  1:578217‑M2/71‑149 (MQ=255)                                                                                   acagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTcc                                                               <  1:422606‑M2/85‑1 (MQ=255)                                                                                       ataaaaaaaaggcggctcgtcaggcgcattaaaaagcagtttgccagctccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                           <  2:539969‑M2/89‑1 (MQ=255)                                                                                       acaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                           >  2:702523‑M2/61‑149 (MQ=255)                                                                                                                   ttaaaaaacagtttgccagcaccgccttctgcCGTCCCCTGCACTTCAATGATGCCCCCGTCTTCGGTCATCACTACGGTCATGTCGGTCTCTGCGACAGAGTCTTCAACGGATTCCAGATCGCGAACCGCGTCGCCGTTCACAATTcc                               >  1:673009‑M2/33‑149 (MQ=255)                                                                                                                     aaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa                             <  1:702523‑M2/119‑1 (MQ=255)                                                                                                                             gtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACt                     >  1:609274‑M2/23‑149 (MQ=255)                                                                                                                              tttgccagcgccgccgtctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTg                    <  1:561613‑M2/128‑1 (MQ=255)                                                                                                                                 gccagcgccgccgtctgcCGTCCCCGTCCCTTCAATGAGTCTCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCgg                 <  2:352400‑M2/131‑1 (MQ=255)                                                                                                                                     gcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAc             <  2:428996‑M2/135‑1 (MQ=255)                                                                                                                                     gcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTAc             >  1:444117‑M2/15‑149 (MQ=255)                                                                                                                                            cttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTCCTTGTCGGTCTCTGCCGCAGAGTCTTCAACGTATTACAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGCAACTGCGGCTACCATCCCt      <  2:616673‑M2/142‑1 (MQ=255)                                                                                                                                               ctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCCACGTATTCCAGATCGCAACCCGCTTGGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTc   >  1:421957‑M2/5‑149 (MQ=255)                                                                                                                                                tgcCTTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCa  <  1:263693‑M2/146‑1 (MQ=255)                                                                                                                                                tgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCa  <  1:15927‑M2/146‑1 (MQ=255)                                                                                                                                                   |                                                                                                                                                  ACAGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCA  >  NC_000913_3_hsa_tpiA/3815795‑3816086

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: ‑