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TestDecription.txt
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* Test #1
The for alignment with large deletion and micro insersion. Mismatches and
small deletions are present in each flanking sequence.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,2399] => 2399 nucs 'seq1'
Second seq [1, 253] => 253 nucs 'seq2'
Score: 177
Aligned: 201 nucs
Identic: 192 ( 96%) nucs => 99 ( 99%) 93 ( 92%)
Gaps: 5 ( 2%) nucs
Alignment:
first seq => [1, 99] EXCISED REGION [2299,2399]
second seq => [1,100] EXCISED REGION [ 150, 246]
EXCISED REGION(S):
first seq => 2199 nucs [100,2298]
second seq => 49 nucs [101,149]
Identity at breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity inside breakpoints:
first seq => 3 nucs [100,102] to [2296,2298]
second seq => 0 nucs
1 AGCCCCTCTTCTGAGGGGAGGGGGGACACTCAGCCCCGTTTTACCCC-CCCTGCCCTGCG 59
||||||||||||||||||||||||||||||||||||||||||||||| ||||||||||||
1 AGCCCCTCTTCTGAGGGGAGGGGGGACACTCAGCCCCGTTTTACCCCTCCCTGCCCTGCG 60
60 GGGGTGGGCTGAGCACGGAGGGTGGGCAGAGGAACAGAGG 99
||||||||||||||||||||||||||||||||||||||||
61 GGGGTGGGCTGAGCACGGAGGGTGGGCAGAGGAACAGAGG 100
EXCISED REGION
2299 AGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCAGAGATGGGCT 2358
||||||||||||||||||||||||||||||||||||||||||||||||||...|||||||
150 AGTGCCTGTGTCTGGTGGGGGCCACTCAGGAGAGTTGGGTTTTCAGGGCACTCATGGGCT 209
2359 TGATTCCACCTGGTGGGGTGGGTGGACCCTGGAGACTCTCA 2399
||||||| |||||||||||||||||||||||||||.||
210 TGATTCC----GGTGGGGTGGGTGGACCCTGGAGACTCUCA 246
* Test #2
The for alignment with same size deletion and insersion.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,38] => 38 nucs 'seq1'
Second seq [1,36] => 36 nucs 'seq2'
Score: 27
Aligned: 32 nucs
Identic: 30 ( 94%) nucs => 7 (100%) 23 ( 92%)
Gaps: 2 ( 6%) nucs
Alignment:
first seq => [1,7] EXCISED REGION [14,38]
second seq => [1,7] EXCISED REGION [14,36]
EXCISED REGION(S):
first seq => 6 nucs [8,13]
second seq => 6 nucs [8,13]
Identity at breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity outside breakpoints:
first seq => 1 nucs [7,7] to [14,14]
second seq => 1 nucs [7,7] to [14,14]
Identity inside breakpoints:
first seq => 3 nucs [8,10] to [11,13]
second seq => 3 nucs [8,10] to [11,13]
1 AGCCGGA 7
|||||||
1 AGCCGGA 7
EXCISED REGION
14 ACACTCAGCCCCGTTTTACCCCTCC 38
|||||||||||||||| |||||||
14 ACACTCAGCCCCGTTT--CCCCTCC 36
* Test #3
The for alignment with large deletion, insersion and microhomology around
breakpoints.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,62] => 62 nucs 'seq1'
Second seq [1,50] => 50 nucs 'seq2'
Score: 46
Aligned: 49 nucs
Identic: 48 ( 98%) nucs => 14 (100%) 34 ( 97%)
Gaps: 1 ( 2%) nucs
Alignment:
first seq => [1,14] EXCISED REGION [28,62]
second seq => [1,14] EXCISED REGION [17,50]
EXCISED REGION(S):
first seq => 13 nucs [15,27]
second seq => 2 nucs [15,16]
Identity at breakpoints:
first seq => 2 nucs [15,16] to [28,29]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity inside breakpoints:
first seq => 0 nucs
second seq => 1 nucs [15,15] to [16,16]
1 TCTCTCTCAGCCGG 14
||||||||||||||
1 TCTCTCTCAGCCGG 14
EXCISED REGION
28 AGCCCCGTTTTACCCCTCCACTGGACCAAAAAAAA 62
|||||||||||| ||||||||||||||||||||||
17 AGCCCCGTTTTA-CCCTCCACTGGACCAAAAAAAA 50
* Test #4
Another test for homology around breakpoints.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,53] => 53 nucs 'seq1'
Second seq [1,42] => 42 nucs 'seq2'
Score: 36
Aligned: 42 nucs
Identic: 40 ( 95%) nucs => 11 (100%) 29 ( 94%)
Gaps: 1 ( 2%) nucs
Alignment:
first seq => [1,11] EXCISED REGION [23,53]
second seq => [1,11] EXCISED REGION [13,42]
EXCISED REGION(S):
first seq => 11 nucs [12,22]
second seq => 1 nucs [12,12]
Identity at breakpoints:
first seq => 6 nucs [9,14] to [20,25]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity inside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
1 CTGTCTCCTGG 11
|||||||||||
1 CTGTCTCCTGG 11
EXCISED REGION
23 AGGTGCCCCTCCACACCCTCTTGATCTTCCC 53
|||||||||| ||||||||||||||.|||||
13 AGGTGCCCCT-CACACCCTCTTGATTTTCCC 42
* Test #5
Test for microhomology inside and outside breakpoints.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,20] => 20 nucs 'seq1'
Second seq [1,11] => 11 nucs 'seq2'
Score: 11
Aligned: 11 nucs
Identic: 11 (100%) nucs => 5 (100%) 6 (100%)
Gaps: 0 ( 0%) nucs
Alignment:
first seq => [2,6] EXCISED REGION [14,19]
second seq => [1,5] EXCISED REGION [ 6,11]
EXCISED REGION(S):
first seq => 7 nucs [7,13]
second seq => 0 nucs
Identity at breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity outside breakpoints:
first seq => 4 nucs [3,6] to [14,17]
second seq => 4 nucs [2,5] to [6,9]
Identity inside breakpoints:
first seq => 3 nucs [7,9] to [11,13]
second seq => 0 nucs
2 CACTG 6
|||||
1 CACTG 5
EXCISED REGION
14 ACTGAT 19
||||||
6 ACTGAT 11
* Test #6
Test for an alternative alignment. There is a 2 bp homology at breakpoints.
Alternative breakpoint should be shifted by 2 bp.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,10] => 10 nucs 'seq1'
Second seq [1, 6] => 6 nucs 'seq2'
Score: 6
Aligned: 6 nucs
Identic: 6 (100%) nucs => 3 (100%) 3 (100%)
Gaps: 0 ( 0%) nucs
Alignment:
first seq => [1,3] EXCISED REGION [8,10]
second seq => [1,3] EXCISED REGION [4, 6]
EXCISED REGION(S):
first seq => 4 nucs [4,7]
second seq => 0 nucs
ALTERNATIVE REGION(S):
first seq => 4 nucs [6,9]
second seq => 0 nucs
Identity at breakpoints:
first seq => 2 nucs [4,5] to [8,9]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 1 nucs [3,3] to [8,8]
second seq => 1 nucs [3,3] to [4,4]
Identity inside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
1 GTA 3
|||
1 GTA 3
EXCISED REGION
8 ACT 10
|||
4 ACT 6
* Test #7
Test for an alternative alignment. Right flanking sequence aligns at a
different place.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,12] => 12 nucs 'seq1'
Second seq [1, 6] => 6 nucs 'seq2'
Score: 6
Aligned: 6 nucs
Identic: 6 (100%) nucs => 3 (100%) 3 (100%)
Gaps: 0 ( 0%) nucs
Alignment:
first seq => [1,3] EXCISED REGION [7,9]
second seq => [1,3] EXCISED REGION [4,6]
EXCISED REGION(S):
first seq => 3 nucs [4,6]
second seq => 0 nucs
ALTERNATIVE REGION(S):
first seq => 6 nucs [4,9]
second seq => 0 nucs
Identity at breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity outside breakpoints:
first seq => 1 nucs [3,3] to [7,7]
second seq => 1 nucs [3,3] to [4,4]
Identity inside breakpoints:
first seq => 1 nucs [4,4] to [6,6]
second seq => 0 nucs
1 GTA 3
|||
1 GTA 3
EXCISED REGION
7 ACT 9
|||
4 ACT 6
* Test #8
Test for an alignment of reverse complement (second sequence).
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [ 1,40] => 40 nucs 'seq1'
Second seq [45, 1] => 45 nucs 'seq2'
Score: 32
Aligned: 35 nucs
Identic: 34 ( 97%) nucs => 8 (100%) 26 ( 96%)
Gaps: 1 ( 3%) nucs
Alignment:
first seq => [ 1, 8] EXCISED REGION [15,40]
second seq => [45,38] EXCISED REGION [27, 1]
EXCISED REGION(S):
first seq => 6 nucs [9,14]
second seq => 10 nucs [37,28]
Identity at breakpoints:
first seq => 0 nucs
second seq => 4 nucs [39,36] to [29,26]
Identity outside breakpoints:
first seq => 2 nucs [7,8] to [15,16]
second seq => 2 nucs [39,38] to [27,26]
Identity inside breakpoints:
first seq => 3 nucs [9,11] to [12,14]
second seq => 5 nucs [37,33] to [32,28]
1 AGCCGGAG 8
||||||||
45 AGCCGGAG 38
EXCISED REGION
15 AGACACTCAGCCCC-TTTTACCCCTCC 40
|||||||||||||| ||||||||||||
27 AGACACTCAGCCCCGTTTTACCCCTCC 1
* Test #9
Test for alignment with many indels/mismatches in flanking sequences.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INDEL
First seq [1,259] => 259 nucs 'seq1'
Second seq [1,188] => 188 nucs 'seq2'
Score: 169
Aligned: 199 nucs
Identic: 186 ( 93%) nucs => 126 ( 91%) 60 (100%)
Gaps: 11 ( 6%) nucs
Alignment:
first seq => [1,139] EXCISED REGION [200,259]
second seq => [1,128] EXCISED REGION [129,188]
EXCISED REGION(S):
first seq => 60 nucs [140,199]
second seq => 0 nucs
ALTERNATIVE REGION(S):
first seq => 60 nucs [141,200]
second seq => 0 nucs
Identity at breakpoints:
first seq => 1 nucs [140,140] to [200,200]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity inside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
1 ACTGCAATCTCTGCCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTG 60
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 ACTGCAATCTCTGCCTCCCAGGTTCAAGCAATTCTCCTACCTCAGCCTCCTGAGTAGCTG 60
61 AATGGTCAACTGGTCAGGGtaaaacctatgtaatgatgatgaattacatttttgatatgc 120
| ||||||| |||||||||||||||.|.|||||||||||||||||||||||
61 A--------CTGGTCA---TAAAACCTATGTAATCACGATGAATTACATTTTTGATATGC 109
121 tgatggatttggtttgcta 139
|||||||||||||||||||
110 TGATGGATTTGGTTTGCTA 128
EXCISED REGION
200 gttgtttccttgctagattttagtgtcaggatgatactggttttgtagaatgagttagag 259
||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
129 GTTGTTTCCTTGCTAGATTTTAGTGTCAGGATGATACTGGTTTTGTAGAATGAGTTAGAG 188
* Test #10
Test for inversion.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INVERSION
First seq [1,9] => 9 nucs 'seq1'
Second seq [1,8] => 8 nucs 'seq2'
Score: 8
Aligned: 8 nucs
Identic: 8 (100%) nucs => 4 (100%) 4 (100%)
Gaps: 0 ( 0%) nucs
Alignment:
first seq => [2,5] EXCISED REGION [9,6]
second seq => [1,4] EXCISED REGION [5,8]
EXCISED REGION(S):
first seq => 4 nucs [6,9]
second seq => 0 nucs
Identity at breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 2 nucs [3,4] to [5,6]
Identity inside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
2 ACTG 5
||||
1 ACTG 4
EXCISED REGION
9 TGAC 6
||||
5 TGAC 8
* Test #11
Test for inversion.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INVERSION
First seq [1,250] => 250 nucs 'seq1'
Second seq [1, 86] => 86 nucs 'seq2'
Score: 78
Aligned: 87 nucs
Identic: 84 ( 97%) nucs => 48 ( 96%) 36 ( 97%)
Gaps: 1 ( 1%) nucs
Alignment:
first seq => [1,50] EXCISED REGION [150,114]
second seq => [1,49] EXCISED REGION [ 50, 86]
EXCISED REGION(S):
first seq => 100 nucs [51,150]
second seq => 0 nucs
Identity at breakpoints:
first seq => 4 nucs [47,50] to [147,150]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity inside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
1 AGCCCCTCTTCTGAGGGGAGGGGGGACACTCAGCCCCGTTTTACCCCTAA 50
||||||||.|||||||| ||||||||||||||||||||||||||||||||
1 AGCCCCTCATCTGAGGG-AGGGGGGACACTCAGCCCCGTTTTACCCCTAA 49
EXCISED REGION
150 TTAGTTTCTTGCTACTGGGAACCCACGTGCATGTCAC 114
|||||||||||||||.|||||||||||||||||||||
50 TTAGTTTCTTGCTACGGGGAACCCACGTGCATGTCAC 86
* Test #12
Test to demonstrate that linear pass to find optimal split between two local
alignments won't find correct alginment. This case is put in the paper.
MATCH = 1, MISMATCH = -2, GAP OPEN = -4, GAP EXTEND = -2, INDEL
First seq [1,29] => 29 nucs 'seq1'
Second seq [1,47] => 47 nucs 'seq2'
Score: 26
Aligned: 29 nucs
Identic: 28 ( 97%) nucs => 12 (100%) 16 ( 94%)
Gaps: 0 ( 0%) nucs
Alignment:
first seq => [1,12] EXCISED REGION [13,29]
second seq => [1,12] EXCISED REGION [31,47]
EXCISED REGION(S):
first seq => 0 nucs
second seq => 18 nucs [13,30]
Identity at breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity outside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
Identity inside breakpoints:
first seq => 0 nucs
second seq => 0 nucs
1 GACAGTCGACCT 12
||||||||||||
1 GACAGTCGACCT 12
EXCISED REGION
13 AAAAAAACTGGTCGGCA 29
|||||.|||||||||||
31 AAAAAGACTGGTCGGCA 47
* Test #13
Test for tandem duplication.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, TDUPLICATION
First seq [1,289] => 289 nucs 'seq1'
Second seq [1,104] => 104 nucs 'seq2'
Score: 89
Aligned: 100 nucs
Identic: 96 ( 96%) nucs => 48 ( 96%) 48 ( 96%)
Gaps: 3 ( 3%) nucs
Alignment:
first seq => [173,222] EXCISED REGION [25, 72]
second seq => [ 1, 49] EXCISED REGION [55,104]
EXCISED REGION(S):
first seq => 198 nucs [25,222]
second seq => 5 nucs [50,54]
Identity at breakpoints:
first seq => 4 nucs [25,28] to [223,226]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 3 nucs [22,24] to [223,225]
second seq => 2 nucs [48,49] to [55,56]
Identity inside breakpoints:
first seq => 2 nucs [25,26] to [221,222]
second seq => 2 nucs [50,51] to [53,54]
173 CTGCGCCTGGGGCACACACATGTGGCTTCCGCTTTCCAGAGCTCTACCAG 222
||||||||||| ||||||||||||.|||||||||||||||||||||||||
1 CTGCGCCTGGG-CACACACATGTGACTTCCGCTTTCCAGAGCTCTACCAG 49
EXCISED REGION
25 AGCTCCTCTTCTGAGGGGAC--GGGACACTCAGCCCCGTTTTACCCCCCG 72
|||||||||||||||||||| ||||||||||||||||||||||||||||
55 AGCTCCTCTTCTGAGGGGACGGGGGACACTCAGCCCCGTTTTACCCCCCG 104
* Test #14
Inversion with conting over left breakpoint.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INVERSION
First seq [1,289] => 289 nucs 'seq1'
Second seq [1, 74] => 74 nucs 'seq2'
Score: 68
Aligned: 74 nucs
Identic: 72 ( 97%) nucs => 23 ( 96%) 49 ( 98%)
Gaps: 1 ( 1%) nucs
Alignment:
first seq => [1,23] EXCISED REGION [223,174]
second seq => [1,24] EXCISED REGION [ 25, 74]
EXCISED REGION(S):
first seq => 200 nucs [24,223]
second seq => 0 nucs
Identity at breakpoints:
first seq => 4 nucs [24,27] to [224,227]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 3 nucs [21,23] to [224,226]
second seq => 1 nucs [24,24] to [25,25]
Identity inside breakpoints:
first seq => 2 nucs [24,25] to [222,223]
second seq => 0 nucs
1 AGATGGGCTT-ATTCTTGATTAGC 23
|||||||||| |||||||||||||
1 AGATGGGCTTGATTCTTGATTAGC 24
EXCISED REGION
223 CTGGTAGAGCTCTGGAAAGCGGAAGCCACATGTGTGTGCCCCAGGCGCAG 174
|||||||||||||||||||.||||||||||||||||||||||||||||||
25 CTGGTAGAGCTCTGGAAAGGGGAAGCCACATGTGTGTGCCCCAGGCGCAG 74
* Test #15
Inversion with conting over right breakpoint.
MATCH = 1, MISMATCH = -2, GAP OPEN = -2, GAP EXTEND = -1, INVERSION
First seq [1,288] => 288 nucs 'seq1'
Second seq [1, 99] => 99 nucs 'seq2'
Score: 88
Aligned: 99 nucs
Identic: 95 ( 96%) nucs => 49 ( 98%) 46 ( 94%)
Gaps: 2 ( 2%) nucs
Alignment:
first seq => [74,25] EXCISED REGION [225,271]
second seq => [ 1,50] EXCISED REGION [ 51, 99]
EXCISED REGION(S):
first seq => 200 nucs [25,224]
second seq => 0 nucs
Identity at breakpoints:
first seq => 4 nucs [25,28] to [225,228]
second seq => 0 nucs
Identity outside breakpoints:
first seq => 3 nucs [22,24] to [225,227]
second seq => 4 nucs [47,50] to [51,54]
Identity inside breakpoints:
first seq => 2 nucs [25,26] to [223,224]
second seq => 0 nucs
74 CGGGGGGTAAAACGGGGCTGAGTGTCCCCCGTCCCCTCATAAGAGGAGCT 25
|||||||||||||||||||||||||||||||||||||||.||||||||||
1 CGGGGGGTAAAACGGGGCTGAGTGTCCCCCGTCCCCTCAGAAGAGGAGCT 50
EXCISED REGION
225 AGCTAGAGC--GCAGCTTACAAGGAGCTAGGCTTCAAGCGGTGACTGGG 271
||||||||| |||||||||||||||||||||||||||||||||.||||
51 AGCTAGAGCAAGCAGCTTACAAGGAGCTAGGCTTCAAGCGGTGAGTGGG 99