E2F2 Color FASTA
The longest form of insertion/deletion sites is shown in the FASTA sequence and contain a '-' as the alternate allele in the variation tag.
*Display courtesy of
GeneSNPs
AAAGGGTCTT ATGCACTGGA GATAAGGTCA GAGATGT
G
A
C
C
G
G
G
A
G
C
G
G
T
50 |
REPEAT
G
A
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
A
A
G
T
A
G
G
G
C
G
G
A
T
T
G
100
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
C
C
G
A
G
A
C
C
A
G
C
G
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
T
G
C
150
C
T
C
T
A
C
T
G
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
A
T
G
G
T
G
G
C
T
G
G
C
G
C
C
T
G
T
A
A
200 |
var(181):[T:0.01]
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
A
C
T
C
A
C
T
T
G
A
A
C
C
T
G
A
G
G
C
A
250
G
G
A
G
A
A
T
T
G
C
A
C
C
G
C
T
G
C
A
C
T
C
C
A
A
C
C
T
G
G
T
G
A
C
A
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
300
T
A
A
A
A
A
A
A
A
A
A
A
GTCAGAGA TAT
A
A
C
A
A
C
A
G
C
T
G
C
C
A
A
T
T
C
T
T
G
A
G
G
C
T
C
350 |
REPEAT
C
T
T
A
T
G
A
T
C
C
A
G
G
T
T
C
T
G
T
G
A
T
G
A
A
A
G
C
T
T
T
A
T
A
T
G
C
A
T
T
A
T
C
T
C
A
T
G
A
G
400
A
T
T
T
C
C
T
C
A
T
G
A
T
C
A
T
A
T
G
A
G
G
T
A
A
G
T
G
C
T
A
T
T
A
G
G
A
G
G
A
G
A
A
A
A
T
C
A
A
G
450
G
A
T
C
A
A
G
G
A
T
C
A
G
A
G
A
A
T
T
T
A
C
A
A
A
A
T
T
T
G
C
C
T
T
G
G
T
C
A
C
A
C
A
A
T
G
A
A
T
A
500
A
T
A
A
A
G
T
G
T
C
T
G
G
G
C
C
T
G
G
G
T
T
T
G
A
A
T
T
C
G
G
G
G
C
T
G
T
T
G
G
C
T
A
C
A
A
A
G
C
C
550
T
G
G
G
C
T
C
T
T
A
A
T
C
A
T
C
A
T
G
G GTTATTGCCA CCTTGGCCTC AACCATCTAA
600
TGAGGAATTA AGCTGTGGAC TGTCTCTGGA GGGCTTTGAA TGCCAAGGCT
650
CAGACTTGCA TAAAAATCAC ACAGCACCAG GCAAGAAATC AGACCTGAAA
700
TCTAGCAGCA GCTTCTAGCA ACTTTTTACC ACTCACTACC CAAGTTTGCT
750
TCTCTGAGC
C
TCTCTAAACC GGAGTGATGA GGAATGTATT ATCAGCAATG
800 |
var(760):[G:0.01]
AAGGTTTTTG AATGAGGCAG AGAGGCTCTT GTGACAAAAG GATTGTTTAA
850
AAGAAACCTA GAGATGTTCA AACATTTA
C
T GAGTATTGGG TCCTAATAAT
900 |
var(879):[T:0.01]
ACAACTGTGA ACAAGACAAA GCTCTGCAGT GGGACTCTGA CCCTGCTGTG
950
CCCCCAGGCA GCTTGGGAGA GTAGAAGAAC CCCTTAACTG G
A
A
A
A
A
C
A
A
G
1000 |
REPEAT
G
G
C
T
C
C
A
G
A
G
C
T
G
G
G
A
C
C
T
G
T
C
C
C
A
G
A
T
T
C
T
G
T
T
G
C
C
A
G
C
T
C
T
C
A
A
A
T
C
A
1050
G
G
G
A
A
T
C
T
C
T
C
T
G
T
A
T
G
A
C
C
T
T
G
G
G
C
A
A
G
T
T
A
C
C
C
A
G
C
C
T
T
T
C
A
G
A
C
T
G
T
1100
C
A
G
T
C
T
T
T
A
T
C
A
T
G
G
G
G
A
T
C
A
T
C
A
T
T
C
C
T
C
T
T
C
C
C
A
G
G
A
T
T
G
T
T
G
G
A
A
T
A
1150
A
A
T
T
A
A
C
T
A
A
A
A
C
A
A
C
G
C
T
T
G
T
A
A
G
G
A
T
C
T
A
G
C
A
T
G
G
T
G
C
C
T
G
G
C
A
T
C
C
T
1200 |
var(1191):[T:0.06]
G
T
A
G
G
C
G
C
T
G
A
A
T
A
G
A
T
G
T
T
A
G
T
T
TTCCCT ACAAAGAAGT AGACTAGTTT
1250
GCCTCCGTCC CTCACCCCTC TGCCATTAAA GGGAACAGGT TCCTGGCCTT
1300
CATTTTAGCA GGAAAGGGGA TATGAATGCA CATGTGCTAG CTAAGCAACA
1350
ATGCAAACTA ACAAAAGGGC CTGTGGCCTG GGGAATACAC TGCTGGGTCT
1400
GGGCTCAGGC TGGGACCCCG CGCCAAAATG TTTCCCTTCA ATCCCAGGGA
1450
ATCCGGGCCC ATTTCTCGGG GCGCTGTGCA CTGCTCTGGC CGCCTCTGCA
1500
CTGTG
C
ATCC CGGAACCACC CTCTGTCTCC GTCTCGCC
G
G CTGCTAACTA
1550 |
var(1506):[A:0.23]
|
var(1539):[A:0.01]
GCGCGGCCGG CGGCTGGCGG CACCAACAGC AGGTGTGGCT GCCCCTTTAA
1600
GCAGCGAAGC TAGTGTTGCA ATCGCCGCCT CGAGGACGCG TTCTTTCCGG
1650
G
G
GGGGGGGG GGGGGTGGAG CCTGTACTGT CGCAGCAGCC AACCGGAGCG
1700 |
var(1652):[T:0.14]
CGGCATTTTC CGCGGGAGAT CCGAATTTCG CGGCACGACG TTTGGCGCTA
1750
AAAAAAAAAA AAAAAGAAGA AAAAAAAGAG GCAGAGAAAG ACTC
A
A
G
G
A
C
1800 | Exon 1 |
UTR
T
A
G
A
G
A
G
C
G
A
G
C
C
G
C
A
A
G
G
A
A
G
T
C
G
G
T
G
C
A
G
T
C
G
A
G
A
C
C
C
C
C
C
T
C
C
C
C
A
T
1850
C
C
C
A
G
C
G
C
A
T
C
G
C
G
T
C
T
C
C
G
C
C
G
A
G
C
T
T
G
A
G
G
G
C
A
C
G
C
C
G
G
G
G
A
C
C
C
C
T
C
1900
C
C
C
A
G
A
G
C
C
G
G
C
C
G
G
A
C
C
C
C
A
G
G
T
G
C
C
G
A
G
G
C
C
T
T
G
G
G
G
A
G
C
G
C
G
G
G
G
C
G
1950
T
C
C
C
G
G
G
T
C
G
C
G
G
T
G
C
C
C
T
C
G
G
G
A
C
G
A
G
A
C
A
G
C
C
C
C
T
G
G
C
A
G
T
G
C
C
A
C
C
A
2000
C
C
G
C
A
G
C
C
G
C
C
G
G
G
C
G
A
T
C
T
C
C
A
A
G
C
G
G
C
G
A
T
C
T
C
T
A
A
G
C
G
C
T
G
C
T
C
T
C
T
2050
G
C
T
C
G
G
C
C
G
C
G
G
G
C
C
A
G
G
A
G
G
G
G
A
G
G
G
T
C
C
G
G
C
C
T
T
G
C
C
C
C
G
C
A
G
G
C
G
T
C
2100
C
A
T
T
G
G
C
G
G
C
T
T
C
C
C
C
C
G
G
C
C
T
C
C
G
C
G
C
C
A
T
G
C
C
G
C
G
G
G
C
C
G
T
G
T
G
A
A
A
G
2150
G
C
G
G
C
A
G
C
A
C
C
G
G
A
A
C
C
C
G
C
A
G
G
T
G
T
C
C
G
C
G
G
G
C
G
C
G
C
C
A
A
G
C
C
C
T
T
T
T
G
2200
G
G
T
A
G
G
G
G
G
C
G
C
C
T
T
A
C
T
C
G
C
T
A
T
G
C
T
G
C
A
A
G
G
G
C
C
C
C
G
G
G
C
C
T
T
G
G
C
T
T
2250
M L Q G P R A L A 9
C
G
G
C
C
G
C
T
G
G
G
C
A
G
A
C
C
C
C
G
A
A
G
G
T
G
G
T
G
C
C
C
G
C
G
A
T
G
A
G
C
C
C
C
A
C
A
G
A
G
2300
S A A G Q T P K V V P A M S P T E 26
C
T
G
T
G
G
C
C
A
T
C
C
G
G
C
C
T
C
A
G
C
A
G
C
C
C
C
C
A
G
C
T
C
T
G
C
C
C
A
G
C
T
A
C
T
G
C
T
A
C
2350
L W P S G L S S P Q L C P A T A T 43
C
T
A
C
T
A
C
A
C
A
C
C
G
C
T
G
T
A
C
C
C
G
C
A
G
A
C
G
G
C
G
C
C
T
C
C
C
G
C
A
G
C
G
G
C
G
C
C
A
G
2400
Y Y T P L Y P Q T A P P A A A P 59
G
C
A
C
C
T
G
C
C
T
C
G
A
C
G
C
C
A
C
T
C
C
C
C
A
C
G
G
A
C
C
C
G
A
G
G
G
C
C
A
A
G
T
T
G
T
G
C
G
A
2450
G T C L D A T P H G P E G Q V V R 76
T
G
C
C
T
G
C
C
G
G
C
A
G
G
C
C
G
G
C
T
G
C
C
G
GTAATG CTGGGGGCCC CCACCGCTTC
2500 |
var(2453):[T:0.01]
|
var(2466):[A:0.01]
C L P A G R L P 84
CCCCTATGCT TTTCCAGGTG TGGGAAAGGA GGGAGGGGTG CCTGAGATCC
2550
AGTTTGAGTG GAGCAGGTAG AGTTTTGGGA AGAGGGAAGA TGAGCTTTCA
2600
GTTTCCAGGA CCCAGTGCCC CCAATATCTG AGTAGAAGAC CCCTTCATTT
2650
TCAGACTTTG GATGAAATAA TCTCATCCAT TC
T
A
G
T
G
G
A
G
T
G
G
A
A
T
G
A
G
C
2700 |
REPEAT
A
C
T
G
G
A
T
T
G
C
G
A
G
T
C
T
G
G
A
G
G
G
A
G
A
C
C
C
A
A
C
T
C
A
C
T
A
C
T
C
C
C
A
G
T
G
C
A
C
T
2750
G
T
G
T
G
A
C
C
T
T
G
G
G
G
A
A
G
T
C
C ATGCAGCCAG CGTTGCCGCC ATTCATTCAT
2800
TAC
T
T
C
A
T
T
G
T
T
T
G
G
C
C
A
G
A
A
A
C
C
A
G
T
A
C
T
G
G
G
T
G
C
C
T
G
C
T
A
T
T
G
T
C
C
A
G
2850 |
REPEAT
G
C
A
A
A
G
A
G
T
A
T
G
G
C
C
T
G
G
G
G
A
C
A
C
T
G
T
G
G
G
A
C
T
T
T
G
G
T
A
A
G
A
C
A
G
A
GGGA
2900
TAGGTCTAGT GGGTCTCTCA CATCCAATCT GCCATGGACA GACTCCAAAT
2950
TGTCCAGCCA GCTCCTGA
G
A TAGCCCCAA
G
TATCTGCCCT AGGTCCTCCC
3000 |
var(2969):[T:0.05]
|
var(2980):[A:0.03]
CCAGGCCCAG TCTTCCCTCC CAGACAGCCA
T
GTAGCAGAT ACAAATGTGG
3050 |
var(3031):[A:0.02]
GCAGCCCCCT TGGGTTCTGT TCAGATTGGC TGCTCTCTCC TCAAGCTCCC
3100
AGGCTCGTTG CCAGAGAGGG CCCAAAGTGT AGTGGCACCA GGCTGCCTGC
3150
TGACCTGGGC TCAGGGTGTG TTTTGTGGGA GTGGAATTCC TGGAGCCCGT
3200
GTGAATCAAA ACAACTTTAG GGTGGGGGGT GGAGTGGGAA AAGCCTGGGG
3250
GAGTGGAGGT GGTGGTGGTT G
A
G
G
A
G
C
C
T
G
G
T
T
T
C
T
G
G
T
G
T
G
A
C
T
C
T
G
C
C
3300 |
REPEAT
A
C
T
A
A
T
T
C
T
C
T
G
T
G
T
G
T
C
C
T
T
G
G
A
C
A
A
G
T
C
T
T
G
G
A
C
C
C
A
G
T
C
T
G
G
G
C
T
T
C
3350 |
var(3348):[C:0.06]
A
G
T
G
T
T
C
T
C
T
C
C
T
T
C
A
C
A
A
T
G
C
G
TGTGTGC ACAGGGTGGC TGTGGGGCTA
3400 |
var(3352):[A:0.06]
|
var(3373):[A:0.01]
GCTCTTCTCA GCCACATTCA GCTCCAGGTC CTGGGTTTTG GAAGCAGGCT
3450
CCAGGGAGAG GAAGGGGGTG TTGTAGGTTT GCTTAGTTGT GAGTTTGGTG
3500
AATAAGTTCG GGTACAGGGA TAAGACCACC CCCCACTGCC CCAGAGGCAT
3550
CTGGTCAGAC CTGTGCTAGT CAGCAAGCAC GGATGCCCAG CCAGCTCTGG
3600
ATGCAGGCAG AGCCACCACT CCCTGCCAGT GGACTCAGGC TTTGCCCATG
3650
TTCAAAACGT TAACCTTCCT GGAGACCCTT CCTGCACATG ATTTCTAACT
3700
AGGAGGGCAG TGGGCAGGAA TGG
T
A
T
T
A
T
C
C
C
C
A
T
T
T
T
A
C
A
G
G
T
T
A
A
G
C
A
3750 |
REPEAT
A
C
C
G
A
G
G
A
T
A
A
C
T
G
G
G
A
T
T
G
G
G
T
A
T
C
T
T
G
T GTTCAGTGTT TTATAGCCTA
3800
AAACATCTTT GTAGTTC
G
T
G
A
A
A
T
A
G
A
T
G
G
C
A
T
T
A
A
T
A
G
C
T
C
C
A
T
G
T
T
A
C
3850 |
var(3818):[A:0.01]
|
REPEAT
A
G
G
G
G
G
A
A
A
C
T
G
A
G
G
C
T
C
A
G
A
G
A
G
G
G
G
A
T
G
T
G
A
C
C
T
A
A
G
G
T
C
A
G
A
G
A
T
G
G
3900
G
G
A
T
G
G
G
G
T
A
G
A
G
T
G
A
T
G
G
G
A
C
T
C
A
C
A
A
G
G
C
A
G
T
C
A
G
C
T
C
TTCTGTCTTT
3950 |
var(3903):[-:0.98]
T
A
T
T
T
T
T
T
A
T
T
T
T
T
T
G
T
A
G
A
G
A
C
A
G
G
G
G
T
C
T
C
C
C
T
A
T
G
T
T
C
C
C
C
A
G
G
C
T
G
4000 |
REPEAT
|
var(3975):[A:0.06]
G
T
C
T
C
A
A
A
C
T
C
C
T
G
G
G
C
T
C
A
A
G
C
A
A
T
C
C
T
C
T
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
4050
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
T
A
GCTACTC TAATG
C
ACCT GGTCAGGCAG
4100 |
var(4086):[T:0.06]
CAGGCTCTTC TCTATGTAGC CTTGACTTTT TTTAATACTG CCTAACTTAG
4150
GAGCTGAGCT CCCCCCAGGG AAGGGAGCTT TGCGGCA
G
GC CCACTCTCCT
4200 |
var(4188):[T:0.11]
CTGGCCAGCT GCTTTCAGAC TGGAAGTTTC AGTAACAGCT GTGGTTTTAC
4250
ACTGCTTTGA ACC
C
T
C
C
C
A
G
A
G
G
A
G
C
C
C
A
A
G
T
A
C
A
T
C
T
G
T
C
T
G
T
A
C
C
T
C
C
4300 |
NOT SCANNED
C
T
C
C
C
A
G
A
A
G
G
G
C
T
C
A
G
T
G
A
T
C
T
T
A
G
C
A
A
G
A
A
G
G
T
C
T
C
T
C
T
T
T
T
A
C
T
G
A
G
4350 |
REPEAT
T
G
C
C
T
C
T
C
G
T
G
T
G
C
C
A
G
A
C
A
C
T
G
C
T
T
G
G
C
A
C
T
C
T
T
C
A
C
G
T
T
C
A
T
T
A
T
C
T
T
4400
G
G
T
C
A
G
G
A
T
G
T
C
C
A
G
A
A
T
G
A
G
G
C
A
C
C
T
T
G
C
A
G
A
T
A
A
G
G
A
A
A
C
T
G
A
G
C
A
A
A
4450
G
A
A
A
G
G
A
A
G
T
C
A
C
T
T
G
C
C
T
G
G
G
T
C
A
C
A
A
G
T
G
A
A
G
A
A
G
C
A
G
G
G
G
A
G
T
C
T
C
C
4500
T
T
G
C
A
G
C
A
G
A
C
C
A
C
C
C
T
A
A
A
G
C
C
C
T
G
C
C
A
G
G
C
C
C
A
G
A
G
C
T
C
C
C
G
C
T
C
C
T
G
4550
T
C
A
A
T
C
C
C
C
A
G
A
T
G
C
C
C
G
G
G
G
C
C
C
A
G
C
C
C
C
G
T
G
G
G
C
A
G
G
C
C
T
G
C
C
C
T
C
T
G
4600
C
T
T
A
C
T
C
A
T
T
T
T
A
C
A
A
G
G
G
C
G
T
G
A
C
C
T
G
G
A
A
C
A
G
T
T
C
C
A
A
A
C
C
C
A
A
C
C
C
T
4650
G
G
G
T
G
T
G
G
C
C
G
C
T
T
G
C
T
T
T
G
T
G
G
C
C
G
G
G
C
T
G
C
A
A
A
G
T
G
C
A
G
G
G
T
G
A
G
C
A
G
4700
G
A
T
T
T
G
T
T
G
T
G
G
A
G
C
T
T
C
T
G
T
T
T
A
A
A
G
G
G
A
C
C
T
C
A
G
G
C
A
C
T
G
T
C
C
A
A
G
G
A
4750 |
REPEAT
T
G
G
C
A
A
C
C
A
A
G
T
T
C
A
A
T
G
G
C
A
G
A
A
T
G
A
A
G
G
C
C
A
C
A
A
C
C
C
A
G
A
T
C
T
C
C
T
G
G
4800
C
T
C
C
C
T
G
T
C
C
A
G
A
G
C
T
C
T
T
T
C
C
A
A
G
T
C
C
T
C
T
G
A
G
G
A
A
G
G
C
T
C
A
G
G
G
AATG
4850
CCCCTTTATC GCATGCCTCC TCTGGCCAGG CGCATGGCAT CATTCTCTTT
4900
CACGCCTGCA GGAAGCTC
T
G
C
C
C
A
G
G
C
T
G
G
C
T
T
G
C
A
A
T
A
G
C
G
C
C
A
T
C
T
C
T
4950 |
REPEAT
G
C
T
C
A
C
T
G
C
A
A
A
C
T
C
C
A
C
C
T
C
C
C
A
G
G
T
T
C
A
A
A
T
G
A
T
T
C
T
C
C
T
G
T
C
T
C
A
G
C
5000
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
5050
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
A
G
C
T
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
5100
C
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
A
G
C
G
T
G
A
G
C
C
A
C
C
A
C
G
C
C
C
5150 |
var(5146):[T:0.02]
G
G
T
C
CTCCTT TTCTTTCAAT TTGTCTACAT TTTCCAGATT TCCTCTTGTG
5200
AGGCATGAAA GAAAATAAAC ATTTTAACAC A
C
AACTCTAC AAGGCAGGT
C
5250 |
var(5232):[T:0.01]
|
REPEAT
A
G
G
T
G
A
G
G
A
G
G
T
G
T
A
G
G
C
T
C
A
G
A
G
A
G
G
C
A
A
G
A
C
A
G
T
G
A
A
T
C
C
C
A
G
G
C
T
G
T
5300
T
C
A
G
C
T
A
C
G
A
A
G
T
G
G
C
A
G
A
G
C
T
G
G
G
A
T
C
T
G
A
A
A
G
C
A
A
G
G
T
T
C
G
A
C
C
C
C
TT
5350
ACATTTGCTC CTACCCCCAC CATCTGACTT AGGGCTTAGG AGAGACCAGG
5400
CTCCACT
C
T
G
C
G
T
G
A
C
C
T
T
G
G
G
C
A
A
G
T
C
A
A
T
T
C
C
T
C
T
T
C
C
C
C
A
A
G
T
C
C
C
A
5450 |
REPEAT
G
T
T
T
C
C
T
C
A
C
C
G
T
G
G
T
G
C
C
C
G
T
A
A
G
G
G
G
G
T
T
G
T
G
C
C
T
G
G
T
G
A
T
C
T
C
T
G
A
C
5500 |
var(5462):[A:0.01]
C
C
T
C
T
G
C
A
C
T
T
C
T
G
CAGCTG CCTGAGGAAG GAGCTGTACT CTTCTCCATA
5550
GGGGTTGGCA GGGTGGGCTT GCGTCCTGAC CAGGCCTTGA AGATCCAGCC
5600
AAAGGGGCTG CCTAAGAGCG TCCAGGATAG GGC
T
AAGCTG GCCTCTGGCT
5650 |
var(5634):[C:0.02]
GTGGCCATAG CCTTTGCTCT CCTCCCCTCA TCGCAGTCTC TTTTCAGCTC
5700
ACC
C
TTGAAC TTTCCCCTTT TCCCACTGGT GCTCCCCATA
C
ATCAGTGCT
5750 |
var(5704):[A:0.01]
|
var(5741):[T:0.01]
AGCAGCTCCC TGGTGGGGGC ACTCCCTATG GGCA
A
A
G
C
G
C
T
T
T
G
C
T
G
C
A
C
5800 |
REPEAT
T
A
T
C
T
C
A
C
T
G
A
A
T
C
C
T
C
A
G
C
A
T
A
G
G
T
G
G
A
G
A
C
A
A
T
G
A
T
G
C
C
C
A
T
T
T
T
A
T
A
5850
G
G
T
G
A
C
T
T
G
A
C
G
T
C
A
A
C
T
G
A
T
T
T
C
C
C
A
G
C
T
A
A
G
A
A
G
G
G
G
A
A
G
G
C
C
T
A
G
A
T
5900
G
C
A
A
A
G
C
C
A
G
G
C
C
A
G
T
C
T
G
A
C
T
C
C
A
A
G
A
C
C
T
G
T
G
C
T
C
AGC CTCACCTTGA
5950
TGCTGATCCT CCTGGGCTTG TCCTCTGCCA CCTGTGTTCT GCAGGTTCAG
6000
CCCAAGCCAT AGGCTGACTT TCCTCTGGGC ACTGTCCAAA GGTGTCAGGG
6050
AGGTATCCTT AGGGGGACAC TTGCCGCATT GGGACCCTGG GAGTGCAGAA
6100
TAAGGGTGAA GGAGAGTGAG AAAAGAGAGA AGGCTGTGTG TGTGTGTGTG
6150
TGTGTGTGTG TGTGCAAGTA CATGCAGTGA TGGGGGCAGG TGGGCGTAGC
6200
CCAGGCCTTG GCCCAAATTC TAGCAAATCC TGGGGCAGCG TGTGTGGGAT
6250
GCAGCTGAGG CAGCCTGGTA
C
A
T
G
G
C
T
T
T
G
C
A
G
T
C
A
G
A
C
A
G
G
C
C
T
G
G
G
T
T
6300 |
REPEAT
C
A
A
A
C
C
C
T
G
G
C
T
C
C
G
G
C
C
T
T
T
G
T
G
T
G
A
C
C
T
T
G
G
G
C
A
T
G
T
G
C
T
T
A
C
T
C
T
C
T
6350
G
T
A
A
G
T
C
T
C
C
A
T
T
T
T
T
T
G
G
C
T
T
C
C
G
A
G
A
G
C
C
A
G
T
G
C
C
A
A
T
A
C
T
G
A
T
G
T
G
G
6400
T
A
G
G
A
C
T
G
T
T
A
C
G
A
G
C
A
T
GT AACAGGCTCA GCATAGATAT TCTGTTCAAG
6450 |
var(6412):[T:0.01]
GTCTTCCTGG GATTCTTTCT GGTTTGTTCT GGCGGGGGAG
G
CAGGTGTGG
6500 |
var(6491):[A:0.31]
CTGGGGAGGC TCTGGGCTGC CCCACCTCTG CCTCAGGTAG AACTCCACCT
6550
GAGCTTCCCT TCCTCTCCCT GCCCTTGGTG CTCCTGCTGG GGGATATATG
6600
AAGAATA
C
TA GGATGTGCAG CCTTGGTCAG GATTGATGGA GGCCTCGGAG
6650 |
var(6608):[T:0.01]
C
T
C
C
C
C
A
A
G
C
C
T
C
A
A
T
T
A
C
T
T
C
A
G
C
T
G
T
A
C
A
A
T
G
G
G
G
A
T
T
A
G
T
G
G
T
A
TGG
6700 |
REPEAT
GAAGATTCAG TGAAGTGATG AATGTTGGGG C
G
TGGTTCAG GGCATGTGGA
6750 |
var(6732):[A:0.01]
AGGTCTCAGC CAGTGACTGG CCCTTTCTCT AGTGACAGCA TGGGGCTAAA
6800
TCTCTAGAAT ATAGGATTTC ACCAGTTAGG AAGGTAGAAA AGGAATATTC
6850
AAGAGACTCA TTCAAGAATG AGCAGTAAAG TGTTTGGATG GTTTCCAGGT
6900
CTCGGTAGTG GTGGAAAGCA AGAGTGTTAT ATCCAGGCTC CTCAAACCAA
6950
GGAGCAGGGC TCCTCACATC AGCCCAGGAA GACTTCCTGG AGGGGGCAGG
7000
AGTGGGGGAA GGGGAACTGA CAGCAGGAAG AGCTGTCACC ACCTCCAACA
7050
CCTGTCAGCC CAGCTGTGCT CAGCAGCAGT TAGAAGTCTC AGCCCTGCTG
7100
AGCATGACCT CACCACTAAA TGTTAAAATA GGCCTCTCTG TCCAAGCCAG
7150
GGTAGGGGTG TCTGGGGGAT CCAGAGTTGG AAAGAGGAAA GAAATGGGCT
7200
CGATGACCCC CAGAAGGATG TATGAAGGAA GAGGTCGAGA TTAGATTTTA
7250
GGGAAGGGAC TCTGTGTTTC CTGAACACCT ACTGTGTGCT GAGACACAGG
7300
CTGAGAACTT TACAGAAGTT AAAGGAGCAG GAGCTAACCA GGGTCTTTCT
7350
CCCACATGCA GACAGGGAGC TAAATAA
G
TG CTTCAAAGGG AAGCCACGCG
7400 |
var(7378):[C:0.01]
GGGATTAATT CAGCCTGTTC CAGGGTTTTT AAGATGCAGA GGCTGCCCAG
7450
GTAGTGCCT
T
C
C
T
T
G
A
A
T
C
C
T
T
A
C
A
A
T
A
G
C
C
C
C
T
T
G
A
G
G
T
A
G
G
C
A
T
T
T
T
T
7500 |
REPEAT
A
C
C
C
C
A
T
T
T
A
C
A
G
A
G
G
A
A
G
A
A
A
C
T
G
A
G
G
C
T
C
C
T
T
A
G
A
T
G
T
G
T
A
A
C
A
T
T
T
C
7550 |
var(7541):[A:0.01]
C
C
C
C
A
A
C
T
T
G
T
A
C
C
G
T
G
A
G
C
C
T
G
C
G
A
A
G
G
A
G
C
T
G
G
A
G
A
T
T
C
A
A
G
C
A
T
G
G
G
7600 |
var(7587):[A:0.01]
T
C
T
C
T
G
A
C
C
T
A
T
G
T
C
C
C
A
G
T
G
T
C
C
C
A
G
T
G
C
C
C
C
A
G
C
T
C
T
G
C
C
C
C
T
G
C
C
C
T
7650
G
C
C
CCTGCCC AGCCCTAACC AGGAGAGAGG CCCTTTCCGG GCCAGTGCAG
7700
CTCTGGGCCT AATTGGGGCC
T
GGGTGGCAA CAGGGTGGAG AGGAGCAGAT
7750 |
var(7721):[C:0.48]
GGGTCTGTGG TTTGATTTCC CCAGCAGGTG TTTCCCAAGC TTGGCGGGAA
7800
CAGAAAGGGG GAGCTGG
A
G
G
GGGGGGGTGG CCTCAGCTGC TTGTCCTTAA
7850 |
var(7818):[G:0.03]
|
var(7820):[T:0.06]
GACACGGGAA GGATTCATTG TCTGCCCCTC TCGGCAAAGA AAGAATGGCA
7900
AATGCAGTCT ATTCAGGAGG CCCTGGGGCC CTCAAGCTGG AGCCCAAACA
7950
TGGGGGTGGG GATGTTTGCA CTGCTTCCCA CTGTGGGCAC CTCCCTGGGT
8000
TGTGGCACTG AGCCAGGAAG TCCCCTGGGT CTGGGCGGAT GCCCAGCCCC
8050
GCCCTGATAA GGACCAGCTG TGGGACTGTG ATGGGCACTC AGTCTAGCTG
8100
GGCCAGCTGC TTCTGTAGGG GGGCCCTTTC CCCACCCTGA TGTGGTTTAG
8150
GCCCCACCCA CTGCTTCCTC CTGGTATCAT CCTCTGGGTG TGGTGGG
G
TG
8200 |
var(8198):[A:0.02]
AGGAGCAGGT ATAGGAGCCG GCTTAGGGCC CGTGGTTAAG GAGCTCTGAG
8250
CCCTTGGCCA GACTGGCTTT GGTAGGGTCT CAAGTGCCTG GGCCTCAGAG
8300
GATGGGAGTT TTATTTGCCC TTCAGAAAAC AAGATTTCCC CTGAAAGCTC
8350
ACTTCTCAGG TCACTGATGT TTTCCTATCA AGTACAGCAG TGCTTCACCA
8400
GGACTGGCGG TAAACT
G
AGG CACAGAGGTG GCTGCTAAGT GGCTTCATTG
8450 |
var(8417):[A:0.01]
CTTTGGCCCC ACATCAGGGA AAGGCTAAAG GAGGAATGAT TCTCAAACTC
8500
TGCCTCTCTC TCCCC
C
TTTT CTCCAAG
G
C
C
A
A
A
A
G
G
A
A
G
C
T
G
G
A
T
C
T
G
G
A
8550 |
var(8516):[T:0.01]
| Exon 2
A K R K L D L E 92
G
G
G
G
A
T
T
G
G
G
A
G
G
C
C
C
G
T
C
G
T
C
C
C
T
G
A
G
T
T
C
C
C
A
A
C
C
C
C
C
A
A
G
G
G
G
A
A
G
T
8600
G I G R P V V P E F P T P K G K 108
G
C
A
T
C
A
G
A
G
T
G
G
A
T
G
G
C
C
T
C
C
C
C
A
G
C
C
C
C
A
A
A
A
GTAAGCA GTGCTGATGG
8650
C I R V D G L P S P K 119
GGCCTCTGGG GTGGGGTGGG GCAGGGGCAG AGGGCAGTGC CCTGCCCAAT
8700
CACTGGTAGT CATATTTGGA TCACTTTCCA GTTTACAAAA GCTTCCTGCG
8750
TATTTTATTA TTTG
A
T
C
C
T
G
C
C
A
G
G
T
A
G
G
T
A
G
G
C
T
T
G
T
C
T
G
T
C
T
T
T
A
C
T
A
8800 |
REPEAT
A
T
C
A
G
G
C
A
A
C
T
T
G
A
G
A
C
T
C
A
G
A
G
A
G
C
T
T
G
A
G
T
G
A
C
T
T
G
C
C
C
A
T
A
G
T
C
T
C
A
8850
G
A
G
T
G
G
A
G
T
C
A
G
G
A
C
T
A
G
A
G
C
C
T
G
G
A
CATG TAAATCTTGC ATTACTTCTG
8900
TG
T
T
T
T
T
T
T
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
T
G
T
G
A
G
A
C
A
G
8950 |
REPEAT
G
T
C
T
C
G
C
T
C
T
G
T
C
A
C
C
A
A
A
T
G
T
G
G
A
T
T
G
C
A
G
T
G
G
T
G
C
C
A
T
C
T
T
G
G
C
T
C
C
C
9000
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
T
G
G
G
G
T
T
C
A
A
G
C
A
A
C
T
C
T
C
T
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
9050 |
var(9034):[T:0.07]
G
G
T
A
G
C
T
G
G
G
A
C
T
A
C
A
G
G
T
A
C
A
T
G
C
C
A
C
C
A
T
C
C
C
T
G
C
C
T
A
A
T
T
T
T
T
G
T
A
T
9100 |
var(9083):[T:0.01]
T
T
T
T
A
G
T
A
G
A
G
A
C
A
C
A
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
9150 |
var(9128):[C:0.01]
|
var(9145):[A:0.42]
C
T
G
A
C
C
T
C
A
A
A
T
G
A
T
C
C
A
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
G
T
G
G
G
A
T
T
A
C
9200
A
G
G
C
G
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
G
G
C
C
AGTCTC GCACTACTTC TACCATACCA
9250 |
var(9220):[T:0.42]
TGTACTGCTC T
C
ATGATCTA AACTCAATGA CCAGTGTTTT ATTTGGGAAT
9300 |
var(9262):[G:0.01]
TTATTATTTT TAAAA
A
GTTT TAATGTTTAG GTCAAGGTAA ATTTTTCTAA
9350 |
var(9316):[C:0.42]
ATCAGAAGAG CAGGGGCTAA CCAGGGTCTT TCTCCCACAT GCAGACAAGG
9400
AGCTGAATAA GTGATTCAAA GGGAAGGGAA GCACAGATTA ATCCAGTCTC
9450
TGCCACCCCA
G
AGGTTTTTA AGATCCAGAG GCTGCCCAGG TG
G
T
G
C
C
T
T
C
9500 |
var(9461):[A:0.42]
|
NOT SCANNED
C
T
A
A
A
G
C
T
A
A
G
T
T
G
G
A
G
G
G
G
G
T
T
G
C
T
G
C
C
T
C
T
T
G
A
T
A
T
T
T
T
C
A
G
T
C
A
A
T
A
9550
T
C
C
T
G
G
A
T
A
G
G
C
T
G
A
G
C
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
9600 |
REPEAT
G
G
A
G
G
C
C
A
A
G
G
T
G
G
G
C
A
G
A
T
A
A
C
C
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
C
A
G
A
C
C
A
G
C
C
T
9650
G
G
C
C
A
A
C
G
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
A
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
9700
G
T
G
T
G
G
T
G
G
C
G
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
C
G
A
G
G
C
A
G
G
9750 |
var(9743):[A:0.40]
A
G
A
A
T
C
A
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
C
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
G
C
A
C
C
A
9800
C
T
G
C
A
C
T
C
C
A
C
T
C
C
A
G
C
C
T
G
G
G
A
G
A
G
A
G
A
G
T
G
A
G
A
C
T
C
C
A
T
C
T
C
C
A
A
A
A
A
9850
A
A
A
A
A
A
A
A
A
A
TCCTGGTTAG AGCAGGAGTT AAAGCAACTG TGTTTGGGAG
9900
GAACACTAGT TTTGGGGGTC CAGGTAGGAT TCTGCTCCGA CCTGACAGGT
9950
CACTCCTGTG AACCTTAGTT GTTGTGAACC TTAGTTGTCT TGTGTAAAAG
10000
AAGACACAGC TAGAT
C
A
G
G
A
A
T
G
G
C
A
A
G
A
A
A
G
T
T
T
C
C
T
C
T
A
C
A
T
T
T
G
A
T
T
10050 |
REPEAT
G
G
T
C
A
A
G
G
C
T
G
C
C
C
A
G
A
G
C
A
C
T
G
T
C
T
T
G
A
A
G
G
A
T
C
C
T
G
A
G
G
C
T
CATGATA
10100
ACTGGTCCTC CTCCAGAGGA ACCTAAGACT CTAAAATTCA GGTTCCAGAA
10150
TTACTGGATT G
A
CCACTAAC TTGCTATATG ACTTGGAAGT CACTCGATTA
10200 |
var(10162):[G:0.49]
CAAAAGTCCC CT
C
GTGGTTT AAGATGCTGC AGCTGAGATG TGGTCTTGCA
10250 |
var(10213):[T:0.06]
ACATCAACCT CATTGAGAAA GGGACCTTTC TCATGAACCT CCCCGACTTG
10300
ATGTTACAGG ACCGATTTTT CTCAGATAAT CATTGTGATT CACATGGGAA
10350
GAAAAAGCAA
G
TGTGT
G
T
CT ATAAAAATGC TCTTAAATCC AGGCTTATCA
10400 |
var(10361):[A:0.01]
|
var(10367):[-:0.01]
TTTCTACCCT ATTCTAATTC CAAACTCCGG ACATTTAAGT GG
C
A
G
G
A
T
A
G
10450 |
REPEAT
G
G
T
A
A
T
G
G
T
T
A
A
G
A
A
G
G
A
A
A
A
C
T
C
C
G
G
A
G
T
C
A
G
A
C
T
G
C
C
T
G
G
A
T
T
T
G
A
A
T
10500 |
var(10464):[-:0.42]
|
var(10475):[T:0.31]
T
C
C
A
G
C
T
T
T
G
C
C
A
C
T
T
T
C
T
A
G
C
T
G
A
G
T
G
A
G
C
T
G
A
G
C
A
A
A
T
T
A
C
T
T
A
A
A
C
T
10550
G
T
G
C
C
T
C
A
G
T
A
T
T
C
T
C
A
T
C
T
A
T
A
A
A
A
T
G
G
G
G
A
T
G
A
T
T
G
T
A
C
A
G
C
A
A
C
C
C
T
10600
T
A
C
A
G
G
G
T
G
T
T
G
T
A
G
G
G
C
T
T
A
A
A
T
G
T
G
T
T
C
G
T
A
C
A
T
G
G
A
A
A
G
C
A
C
T
T
A
G
A
10650
A
C
A
G
T
G
ACAG TAGTTGTGGG TGGTGGTCTG GCAGCCCTAA GCTGTGGTGG
10700
AAATGTGCAT TTA
A
C
C
A
G
G
A
G
T
C
A
G
G
A
C
A
C
T
A
G
G
C
T
T
C
C
A
A
C
A
C
T
G
C
C
C
A
10750 |
REPEAT
T
T
G
G
C
C
G
T
G
A
G
A
C
C
T
T
A
A
G
C
A
A
G
T
C
A
C
C
T
T
C
C
C
T
C
T
T
A
G
G
T
A
T
C
A
G
G
T
T
C
10800 |
var(10757):[A:0.01]
C
C
T
G
T
C
T
G
G
A
C
A
G
T
G
G
T
G
G
T
G
A
T
G
G
A
TGCC CTGGCTCACA CTGCTTTGTA
10850
AACTGGAAAG TGGGTGGT
G
A AAGGTGGTAC TTAATGAGCC TAGGTCAATG
10900 |
var(10869):[A:0.04]
GACGAGGGTC CTGGGCGGGC CCTCCCCTCC CTGAGCTGTG ACTGGGTCCC
10950
TTTCTTCTTC AG
C
C
C
C
C
A
A
A
T
C
C
C
C
C
G
G
G
G
A
G
A
A
G
A
C
T
C
G
G
T
A
T
G
A
C
A
C
T
11000 | Exon 3
T P K S P G E K T R Y D T 132
T
C
G
C
T
G
G
G
G
C
T
G
C
T
C
A
C
C
A
A
G
A
A
G
T
T
C
A
T
T
T
A
C
C
T
C
C
T
G
A
G
C
G
A
G
T
C
A
G
A
11050
S L G L L T K K F I Y L L S E S E 149
G
G
A
T
G
G
G
G
T
C
C
T
G
G
A
C
C
T
G
A
A
C
T
G
G
G
C
C
G
C
T
G
A
G
G
T
G
C
T
G
G
A
C
G
T
G
C
A
G
A
11100
D G V L D L N W A A E V L D V Q 165
A
G
C
G
G
C
G
C
A
T
C
T
A
T
G
A
C
A
T
C
A
C
C
A
A
C
G
T
G
C
T
G
G
A
A
G
G
C
A
T
C
C
A
G
C
T
C
A
T
C
11150
K R R I Y D I T N V L E G I Q L I 182
C
G
C
A
A
G
A
A
G
G
C
C
A
A
G
A
A
C
A
A
C
A
T
C
C
A
G
T
G
G
G
T
GTGAGTGC CTGGGCGGCC
11200
R K K A K N N I Q W V 193
AGTGGTACCC TCCAATGGGT ACTTGTGCTG TGGGCGGAGC CAGAGG
C
AAT
11250 |
var(11247):[-:0.01]
AGCCAGTGGG TGTGAG
T
GGC AGGGGCGGGG CTGAGAGCAA CATCCAATGG
11300 |
var(11267):[C:0.01]
GCACAAGG
G
C TGAGGCGGAC CAAGAGCAAC ATCCAATAGG CTTATTGCTG
11350 |
var(11309):[C:0.01]
GGGGTAGAGC CAATGTATGG TGAGGAAGAG CGCCGTGTAC CTGCTGAAGT
11400
AATCGGAGAA CGTGATGCGG GGCAGAGTGG AGAATGACAT CTGGGAGGTG
11450
TAAAGGCCAA AGGGAACC
C
C AGATTCTTCC TCTTGAGTCA GAGATCCCAA
11500 |
var(11469):[T:0.35]
TATCCACTTC TTCTAGCTTA GGGCAGTCCC CTGGGAGCT
G
AGTAGGGGGA
11550 |
var(11540):[A:0.46]
TCCCGGACTC CTTCCAGATC TGAGATAGGA GTACTCCAGC CTCCTCTCTC
11600
CATTTCTACA GGGTTTAAAG AGCTGACCTA TAGCCCTTGG CATAAATCCT
11650
AAGAGAAACC AGGCAGGGGA GGGAGTCAGG ACTGAGGCTA CTCCAGTTGG
11700
AGGAGGCTGG GGCATAGGGA TGAACAGAGT CGAGAGCCCC TCAGAAATGG
11750
GGTTCAGGTC TTGACTTGTT TTTTCTCCCA AGCCCAACCC CCAAACCTCT
11800
G
C
TTCCAATC CCTGGTAGCT CCCTGAGAGA CAGGCATGAC CACTGATTTC
11850 |
var(11802):[G:0.45]
CACAACCCAG GGAAGCACCC TCATAGACTA TTTTTTGAAT GACCTTGTTC
11900
TGGAGTTTCA CCCACAGACT GACACTGGGG GGCTGCTCTG TTCCCAG
A
G
G
11950 | Exon 4
G 194
C
A
G
G
G
G
A
A
T
G
T
T
T
G
A
A
G
A
C
C
C
C
A
C
C
A
G
A
C
C
T
G
G
G
A
A
G
C
A
G
C
A
A
C
A
G
C
T
G
G
12000 |
var(11982):[A:0.01]
R G M F E D P T R P G K Q Q Q L 210
G
G
C
A
G
G
A
G
C
T
G
A
A
G
G
A
G
C
T
G
A
T
G
A
A
C
A
C
G
G
A
G
C
A
G
G
C
C
T
T
G
G
A
C
C
A
G
C
T
C
12050 |
var(12047):[T:0.40]
G Q E L K E L M N T E Q A L D Q L 227
A
T
C
C
A
G
A
G
C
T
G
C
T
C
T
C
T
G
A
G
C
T
T
C
A
A
G
C
A
C
C
T
G
A
C
T
G
A
G
G
A
C
A
A
G
G
C
C
A
A
12100
I Q S C S L S F K H L T E D K A N 244
C
A
A
G
A
G
A
TAT CCTCCTTGGT TGGGGGAAGG TGTCAGGGAG CAGGAACCTG
12150
K R 246
TTGCATGTTT ATATCTATCC TGAGTTGATT CAGTAACTTA CCCTAAGGGT
12200
CTGGCATCTG TTTCTTCCTT CCTGGGTGGC TTTTCTTCTC AAGTCTATTT
12250
TTAAAA
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
T
T
T
A
G
A
G
A
C
A
A
G
G
A
C
T
C
A
T
T
C
C
G
T
C
A
T
C
12300 |
REPEAT
C
A
G
G
C
T
G
T
A
G
T
A
C
A
A
T
G
G
C
A
T
G
A
T
C
A
T
A
G
C
T
C
G
C
T
A
T
A
G
C
C
T
C
G
C
C
C
T
C
C
12350
T
G
G
G
T
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
G
C
A
G
C
C
T
C
C
T
G
A
A
T
A
G
C
T
G
G
A
A
C
T
A
C
A
12400
G
T
C
A
T
G
T
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
C
T
T
T
A
T
T
T
T
T
T
G
T
A
T
A
G
A
C
A
G
G
G
12450
T
C
T
C
G
C
T
T
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
T
C
T
C
T
A
A
C
T
C
T
T
G
G
C
T
T
C
A
G
T
C
G
A
T
C
C
12500
T
C
C
T
G
C
C
T
C
A
G
T
C
T
C
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
T
C
A
C
T
G
T
G
12550
C
C
T
G
G
C
C
TCA AGTTTATTAA AGGTATTTTT TCATTATTGA AAATAAGCCA
12600
AGTAAATTT
C
TTTAAATCTG GAAAACGGAG AAAAAGAATG ATGAGCTGCC
12650 |
var(12610):[A:0.01]
ACCTTAACAT AGCCATTGTT CTTGAACTGC ACACAGAATG TGTTTTATTT
12700
CAATATAGTT GTAATGTAGT T
G
T
G
T
G
C
C
T
G
C
T
G
A
A
C
A
T
A
G
C
T
T
T
T
T
T
T
T
T
12750 |
NOT SCANNED
|
REPEAT
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
A
G
T
C
T
C
A
C
T
C
T
T
G
C
C
C
A
G
12800
G
A
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
A
A
T
C
T
C
G
G
C
T
C
G
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
12850
G
T
T
C
T
A
G
T
G
A
C
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
T
A
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
12900
G
C
C
C
G
C
C
A
C
C
A
T
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
12950 |
REPEAT
C
T
T
A
C
T
A
T
T
G
C
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
C
C
A
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
13000
G
C
A
A
C
C
T
C
T
G
C
C
C
C
C
T
G
G
G
T
T
C
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
T
C
C
A
A
13050
G
T
A
G
C
T
G
A
G
A
T
T
A
C
A
G
G
C
G
C
C
T
G
C
C
A
C
C
A
C
A
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
T
13100
T
T
A
T
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
13150
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
A
G
C
C
T
T
C
G
T
A
A
G
T
G
C
T
A
G
G
G
T
T
A
C
A
13200
G
G
A
G
T
G
A
G
A
T
A
C
C
G
C
A
C
C
C
G
G
C
C
T
T
C
A
C
A
C
C
C
A
G
C
T
G
A
T
T
T
T
T
G
T
A
T
T
T
T
13250 |
REPEAT
T
A
G
T
G
G
A
G
A
T
G
G
A
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
T
G
A
A
T
T
C
C
T
G
13300
A
C
C
T
C
A
A
G
T
T
A
T
C
C
A
C
C
C
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
A
G
G
A
T
T
A
C
A
G
G
13350
C
A
T
G
A
G
C
C
G
C
C
G
C
G
T
T
C
G
G
C
C
G
A
A
T
A
T
C
T
T
T
A
T
A
C
A
T
A
G
A
A
T
G
C
T
T
T
C
C
C
13400 |
REPEAT
A
T
A
T
T
T
T
T
A
C
T
T
G
T
T
T
C
C
T
A
G
G
T
C
A
G
A
T
C
C
C
T
A
G
G
A
T
T
G
A
A
A
T
G
A
T
G
A
G
G
13450
T
C
A
A
A
G
A
G
C
A
T
G
G
A
C
T
T
T
G
C
T
A
A
G
G
C
T
C
T
T
T
C
A
T
A
C
A
T
T
T
T
C
C
A
A
A
A
T
CA
13500
TTTCATATCT AATTGGTTTT GGATCTGACC TTGTATTTTT GGAAGGA
T
GC
13550 |
var(13548):[G:0.13]
TAGGCATTGT GAGAAATATA AAGAAATAAA ACACATCTTC CTGCCTTCTC
13600
AGAGCTAATG ATCTAGTTTG AGAGATGAAG CCTTTACATA AGGCAACATT
13650
TTTTATGATT TATAATGTAA GGCAACATTT TTTATGATTT ATATTCCCAT
13700
TTGCTTTCCA AAGGGATCTA AGGTAGCTTA TGAGATTAAC AGGTTACAGA
13750
TTGTATTATT
T
CTAAGTT
G
T ACAAGGAGTG AGAAAGTAAT GTTCAGAGGC
13800 |
var(13761):[G:0.07]
|
var(13769):[A:0.13]
TTAGGAGAGG TGGGTGAAGG TGCTCCCTGG CAGGTTTGGG GTTTGAATTT
13850
TGACCAGACA GTCACTTTTC TTGACTCTCC TGCCCTACG
C
T
G
G
C
C
T
A
T
G
T
13900 | Exon 5
L A Y V 250
G
A
C
T
T
A
C
C
A
G
G
A
T
A
T
C
C
G
T
G
C
T
G
T
T
G
G
C
A
A
C
T
T
T
A
A
G
G
A
G
C
A
G
A
C
A
G
T
G
A
13950
T Y Q D I R A V G N F K E Q T V 266
T
T
G
C
C
G
T
C
A
A
G
G
C
C
C
C
T
C
C
G
C
A
G
A
C
G
A
G
A
C
T
G
G
A
A
G
T
G
C
C
C
G
A
C
A
G
G
A
C
T
14000
I A V K A P P Q T R L E V P D R T 283
G
A
G
GTGAGAG GGGAAATATT TGGTGGAGAG CAGGGTTGAG ACCCTGCCAG
14050
E 284
GGAGCGTTCC AGG
C
GGCTCT GCAGACTCTG TCCCTGGCAC TGCCTAGCCC
14100 |
var(14064):[T:0.01]
CATGCTTTGC AGGCCCATTG TGGTGTCCAT GGCAATATTG GTGGCCTTCA
14150
AGCTTGGGCA GAAATGGCAG AAGCTGGAAA GGGCAACGGA GACTGAGTAG
14200
TGGCCTGAGA AAATCTCTGT TC
C
TGGTTTC TTTCTGCATC CCACCAGCCC
14250 |
var(14223):[T:0.12]
TGGGTTCCTG CGCACATGCA CACTCATGCC CACGTATGAC GG
T
G
T
C
A
A
T
A
14300 |
REPEAT
C
T
C
A
T
G
A
A
A
A
T
C
C
T
T
T
C
A
T
G
C
T
G
A
C
C
G
T
G
C
T
T
T
C
C
C
A
G
G
T
T
A
A
A
G
A
C
C
A
A
14350
A
A
T
T
C
C
T
G
A
C
A
C
T
C
C
C
T
A
T
G
A
G
G
C
T
T
C
G
G
T
G
C
T
C
T
G
A
G
A
C
C
C
C
A
G
C
T
G
A
C
14400
C
T
T
G
C
C
A
A
C
C
T
C
C
T
T
T
T
C
C
C
C
G
C
T
G
C
C
C
C
A
T
C
T
G
T
C
T
T
T
G
T
T
T
T
G
G
C
C
A
C
14450 |
var(14401):[G:0.49]
A
C
T
G
A
C
C
T
G
T
C
T
G
C
A
G
T
T
T
C
C
C
C
A
T
T
G
C
A
C
T
A
A
G
C
T
C
A
T
T
C
C
T
A
G
T
A
T
G
A
14500 |
var(14497):[G:0.02]
G
A
T
C
T
T
C
T
G
T
T
T
T
G
T
T
T
G
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
A
T
T
T
T
T
G
A
14550 |
REPEAT
|
var(14543):[-:0.52]
G
A
C
A
G
A
G
T
C
T
C
A
C
T
C
T
G
T
T
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
A
C
A
C
A
A
T
C
T
T
G
14600
G
C
T
G
A
C
T
G
C
A
A
T
C
T
C
C
G
C
C
T
C
C
T
G
G
G
T
T
G
A
A
G
C
G
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
14650
C
T
C
C
C
A
A
G
T
A
G
C
T
G
A
G
A
T
T
A
C
A
G
A
T
G
C
C
C
G
C
C
A
C
T
A
C
T
C
C
C
G
G
C
T
A
A
G
T
T
14700 |
var(14682):[T:0.01]
T
T
G
T
A
T
T
T
T
T
T
T
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
T
C
A
G
G
C
T
G
14750 |
var(14741):[A:0.11]
G
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
T
G
A
T
C
C
A
C
C
T
G
C
C
T
C
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
14800
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
C
A
C
A
C
T
C
A
A
C
C
TATTTGA
T
T
T
T
T
T
T
T
A
A
14850 |
var(14829):[T:0.01]
|
REPEAT
G
A
C
A
G
C
G
T
C
T
T
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
T
G
A
T
C
T
C
A
14900
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
G
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
C
A
T
C
C
T
C
C
C
A
C
C
T
C
A
C
C
14950
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
C
C
A
C
A
G
G
T
G
C
A
T
G
C
C
A
C
C
A
T
G
C
C
T
A
G
C
A
C
A
T
T
T
15000
T
T
T
G
T
T
T
T
T
T
T
T
G
T
A
G
A
G
A
C
G
A
G
G
T
T
T
T
G
C
C
A
C
G
T
T
G
T
C
C
A
G
G
C
T
G
G
T
C
T
15050 |
NOT SCANNED
T
G
A
A
C
T
T
C
G
G
C
A
T
A
G
A
A
G
T
G
A
T
T
T
G
C
C
C
G
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
15100
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
A
C
C
A
C
C
G
C
A
C
C
T
A
G
C
C
G
T
G
C
A
A
G
A
C
C
C
T
C
A
T
A
C
A
T
15150 |
REPEAT
G
C
T
C
T
T
C
C
C
C
T
C
G
A
G
C
T
G
A
A
A
T
G
T
T
C
T
T
C
C
C
T
C
T
C
T
G
C
C
T
G
A
T
T
T
A
C
C
G
C
15200
T
A
T
T
C
A
T
C
C
T
A
C
A
G
G
T
C
T
C
A
A
C
T
C
A
A
A
T
G
T
C
A
C
T
T
C
C
T
C
A
A
G
G
A
A
G
C
C
T
T
15250
C
T
C
T
G
A
T
T
A
C
C
T
C
C
A
G
A
C
T
T
C
A
T
A
A
A
C
A
C
C
T
G
T
G
C
T
T
T
T
C
C
G
C
T
G
C
C
T
T
T
15300
A
A
T
T
T
A
A
T
C
T
C
C
A
T
T
T
G
C
T
G
A
G
G
T
A
T
A
T
T
T
G
G
C
A
T
G
A
T
T
A
C
A
C
G
A
T
T
G
C
A
15350 |
var(15344):[A:0.03]
T
T
C
T
G
C
T
T
C
A
T
C
T
A
T
T
A
G
G
G
T
G
T
A
A
G
C
T
T
C
A
C
A
A
G
A
G
A
A
T
G
T
T
C
T
A
C
T
C
A
15400
C
C
T
T
G
T
A
T
C
C
C
T
T
G
C
C
C
A
G
A
G
C
C
T
G
G
C
A
T
A
T
T
A
T
A
A
G
G
A
C
T
C
A
A
G
A
A
A
T
A
15450
A
T
T
T
A
T
T
T
A
A
A
G
G
A
A
G
A
A
CT GGGGCTGCAG AGACAATTAA GGTCCTGCCC
15500
CCACCCTTGG AGGAGTTCAC GACTTAGTGG GAAAAAGACG CTGTCATTTA
15550
TAGACTGAAG ATGTGCTTTG CAAGCATAGA GAAAGGGTAG TTAGAGGAGG
15600
TATCCCAGGT GGGGACAGTT AAACTAGGTC TTAAAGAATG AATAGGGTTT
15650
TTGCTAGGTG CAGTTCTGTG TGAGTACAGG CATGGAGACC TGGACATGTG
15700
CCTGGATGGC ATGCATGTCA TCAGTTGTGG CTTAAGTTGC GGTTATGTGG
15750
TAGGGAAGGG ACAGGGTGGG AAGACCAAAT ACT
A
G
G
A
C
T
C
T
T
G
G
T
T
A
C
A
G
15800 |
REPEAT
G
T
A
A
C
A
G
A
A
A
G
C
C
A
A
G
T
C
C
A
A
C
T
G
G
C
T
T
C
A
G
C
G
G
G
A
G
G
T
A
T
G
G
G
T
A
G
G
G
G
15850
T
G
G
T
G
G
G
A
A
C
C
A
A
A
T
G
A
C
A
A
G
T
C
C
T
G
G
G
G
G
A
G
A
T
T
C
A
G
A
G
A
T
T
G
C
T
G
G
C
A
15900
A
G
G
T
T
G
G
A
T
G
T
A
G
A
T
G
C
T
C
A
A
A
C
T
A
T
G
A
C
T
T
C
A
G
G
T
C
T
G
T
C
T
C
A
C
G
C
T
T
T
15950
T
C
A
T
C
T
C
T
C
T
G
C
T
T
T
T
C
T
C
T
G
T
G
C
T
G
A
C
T
C
C
A
T
T
C
C
C
A
G
G
T
G
G
G
C
T
C
T
C
T
16000
C
C
T
T
G
T
G
G
T
G
G
T
A
G
A
G
G
T
A
G
C
T
T
T
T
A
T
G
A
T
A
C
C
A
G
C
T
C
A
G
C
A
A
C
C
C
C
A
G
T
16050 |
var(16008):[A:0.01]
G
G
G
A
A
G
G
G
G
G
C
T
T
C
C
A
T
T
T
C
C
C
A
C
A
A
G
T
C
C
A
G
C
A
A
A
A
G
T
C
C
T
G
G
G
C
C
T
A
G
16100
T
G
C
T
G
G
T
T
G
G
A
T
C
C
A
C
C
T
G
A
G
C
C
A
T
G
G
G
C
C
A
T
C
C
T
G
A
A
C
C
A
A
T
C
A
T
G
T
C
A
16150
C
A
C
T
A
A
C
T
T
T
C
C
T
G
G
C
T
G
C
G
T
C
A
C
A
A
G
C
T
C
A
C
C
C
A
C
T
G
G
C
A
T
T
G
G
G
G
A
A
G
16200
G
G
T
G
C
T
G
C
C
C
C
C
C
C
C
C
C
C
C
C
G
C
C
C
C
A
A
A
A
C
T
A
G
A
T
G
A
C
C
T
G
A
G
A
G
T
G
G
G
G
16250 |
var(16220):[T:0.01]
G
G
A
A
G
A
G
T
G
A
T
T
T
C
C
C
A
C
A
G
G
A
A
A
A
T
C
A
A
G
G
T
G
T
T
C
C
C
C
C
T
A
A
A
A
G
A
A
G
T
16300
G
G
G
C
T
T
C
A
G
G
G
C
C
A
G
A
C
A
G
C
A
G
A
A
A
C
A
G
C
G
G
A
A
G
T
C
C
A
C
C TTAGTTAGGC
16350
CAGATGGAGT TGGTCTCAGT GCCAGCCCAG GGTTTGAGCT TGCACCCATG
16400
G
ATGGCAGCA GCCACGTGCG TCTGTCCATA CACACTAAGT GTAAGTGTCC
16450 |
var(16401):[A:0.11]
AGCTGCCCAG AGCAATGACC TGGCTTCTCT TCCTCCTCCA G
G
A
C
A
A
C
C
T
G
16500 | Exon 6
D N L 287
C
A
G
A
T
A
T
A
T
C
T
C
A
A
G
A
G
C
A
C
C
C
A
A
G
G
G
C
C
C
A
T
C
G
A
A
G
T
C
T
A
C
C
T
G
T
G
C
C
C
16550
Q I Y L K S T Q G P I E V Y L C P 304
A
G
A
G
G
A
G
G
T
G
C
A
G
G
A
G
C
C
G
G
A
C
A
G
T
C
C
T
T
C
C
G
A
G
G
A
G
C
C
T
C
T
C
C
C
C
T
C
T
A
16600
E E V Q E P D S P S E E P L P S 320
C
C
T
C
C
A
C
C
C
T
C
T
G
C
C
C
C
A
G
C
C
C
T
G
A
C
T
C
T
G
C
C
C
A
G
C
C
C
A
G
C
A
G
C
A
G
C
A
C
C
16650
T S T L C P S P D S A Q P S S S T 337
G
A
C
C
C
T
A
G
C
A
T
C
A
T
G
G
A
G
C
C
C
A
C
A
G
C
A
T
C
C
T
C
A
G
GTAGGT CCCTTGTCCA
16700
D P S I M E P T A S S 348
GAGGGACAGG AGGTGGGGGG AGAGACCGGC CTTAGTTTTC TCTTCTATAT
16750
CAATGTTTGT TGAAAACCTC CTGTTTTATC CAGCAGCTGG GGATGTAGTC
16800
ATCCTACCCC ACACATGTGC ATTGTACTTA ATGCTTTATA AAGCCTCACT
16850
AGGAAGGCTG GTGCTGCTCC AGGGCAGAGG AAG
G
C
C
T
G
G
A
T
T
T
G
A
A
T
C
C
C
16900 |
REPEAT
A
G
C
C
C
A
T
C
C
A
C
T
T
A
C
C
A
G
C
T
A
T
G
T
G
A
C
C
T
T
A
G
A
C
A
A
G
T
T
A
C
T
T
A
A
C
C
T
C
T
16950 |
var(16915):[A:0.01]
C
T
T
G
G
C
C
T
C
A
A
T
T
T
T
T
C
T
C
A
T
C
T
G
T
G
A
G
T
T
G
G
G
C
G
C
A
G
T
A
A
T
T
A
A
T
A
C
T
G
17000 |
var(16984):[T:0.01]
T
C
T
A
A
C
T
C
A
T
A
G
G
T
T
G
T
T
G
T
G
A
G
A
T
T
A
TA
T
A
G
C
T
C
A
C
G
C
C
T
A
T
A
A
T
C
C
C
A
17050 |
REPEAT
G
C
A
G
T
T
T
G
G
G
A
G
A
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
C
A
T
T
T
G
A
G
A
C
C
A
G
G
A
G
T
T
C
A
A
G
17100
A
G
C
A
G
C
C
C
G
G
G
C
A
A
C
A
T
A
G
G
G
A
T
A
C
C
C
T
G
T
C
T
C
T
A
T
A
A
A
A
A
A
A
T
T
T
A
C
A
A
17150
A
T
T
A
G
C
C
G
A
G
T
G
T
G
G
T
G
G
C
A
C
A
C
G
C
C
T
G
T
A
G
T
C
C
A
G
C
T
A
C
T
C
G
G
G
A
A
G
C
T
17200
G
A
G
G
T
G
G
G
A
G
G
A
A
C
A
C
T
T
G
A
G
C
C
A
T
G
G
A
G
G
T
T
G
A
G
G
C
T
A
C
A
G
T
G
A
G
C
T
C
T
17250
G
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
G
T
G
G
G
C
A
A
C
A
G
A
G
G
G
A
G
A
C
C
C
T
G
T
C
T
C
A
17300
A
A
A
A
T
A
A
A
A
A
T
A
A
G
A
A
T
A
A
A
A
T
T
T
T
A
A
A
A
A
A
TA
G
G
C
C
A
G
G
C
G
C
T
G
T
G
G
T
C
17350 |
REPEAT
C
C
C
A
C
C
T
A
T
A
A
T
C
C
C
A
G
C
A
C
T
C
T
G
G
G
A
A
G
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
17400
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
A
T
G
A
G
A
C
T
C
C
A
T
C
T
C
T
17450
A
A
T
A
A
A
A
A
T
A
A
A
A
T
A
A
TAAA ATTTGCCCAT TAAA
A
A
A
A
A
A
A
T
A
A
G
A
C
A
T
A
17500 |
REPEAT
G
A
G
G
T
G
A
T
G
T
G
T
C
T
T
A
C
C
T
A
A
G
G
T
C
T
C
C
C
A
G
C
T
G
G
G
A
G
G
C
A
A
C
A
G
A
G
C
T
G
17550
T
G
T
C
T
T
G
A
A
C
C
T
T
G
G
T
C
T
A
C
A
T
A
C
T
C
C
C
A
G
C
C
C
A
G
T
G
C
T
C
T
C
T
C
C
A
C
AAG
17600
GCATAGATCA AATCGAAGAA GGGGCTTCT
G
GCTGGGAGGT GGACGGTATG
17650 |
var(17630):[A:0.01]
GTTAAGAGCT GGCTACCCCT GATGGAAGGT AGTACAGGTA AGTTGCCAGG
17700
GAGCAAAGTT CCTGAGAGCT TCCCAAGGAG GGTGGGAGTC CAGAAGGAGT
17750
ACAAATGGAA GCCTGTAAAG GCCCCTCTCC AGAACAGTTT TTGCCTTTTC
17800
CTGGATCACA CATCCGGCTA GACTGGCAGG ATTCTTCAAG GCTATGTAGG
17850
CCAGTGTT
C
C ACTTTTTGTC TTCTTAGCAG CAGAATTCTC TTAAGTAGAA
17900 |
var(17859):[G:0.01]
CCCTAGCGTT TAGACCAAGG TAGAGGTAGA GCTGGGCTGA TGGAAGAGGC
17950
TTGCTGGAAG GGCT
C
TGCAG TACACTGGTT GTGTCCATTT CTCTAACT
C
A
18000 |
var(17965):[G:0.02]
|
REPEAT
G
A
G
G
T
T
A
A
T
A
A
A
C
T
A
T
T
G
C
C
T
G
C
A
G
G
T
C
A
A
A
T
C
T
G
A
C
C
T
G
C
T
T
T
T
A
A
T
G
A
18050
C
C
C
A
T
G
A
G
C
T
A
A
G
A
A
T
G
G
T
T
T
T
A
C
A
T
T
T
T
T
A
A
A
G
A
G
T
T
G
T
G
G
G
A
G
A
A
A
G
A
18100
A
A
A
A
G
A
A
G
G
C
A
A
C
T
A
T
G
T
G
A
C
A
G
A
G
A
C
C
A
C
A
A
G
T
G
T
C
C
C
A
C
A
A
A
G
C
C
T
A
A
18150 |
var(18135):[A:0.01]
|
var(18141):[A:0.40]
A
A
T
A
C
T
C
T
C
C
A
G
C
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
A
G
A
C
A
G
T
C
T
C
G
C
T
C
18200 |
REPEAT
C
G
T
C
A
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
A
T
G
G
T
A
T
G
A
T
C
T
T
G
G
C
T
C
A
C
A
G
C
A
A
C
C
T
C
T
18250 |
var(18246):[A:0.04]
G
C
C
T
C
C
T
G
G
G
T
T
C
A
A
T
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
C
T
G
G
G
18300
A
T
T
A
C
A
G
G
T
G
C
C
C
G
C
C
A
T
C
A
C
A
C
C
C
A
G
C
T
A
A
T
T
T
T
T
T
T
T
T
T
T
T
T
T
G
T
A
T
T
18350
T
T
T
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
C
C
C
A
T
G
T
T
G
G
C
C
A
G
C
C
T
G
G
T
C
T
T
G
A
A
C
C
C
T
18400
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
T
G
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
T
A
C
A
18450
G
G
C
T
C
C
A
G
C
T
C
T
T
T
A
T
A
G
A
A
G
T
T
T
G
C
T
G
T
C
C
C
C
AA
C
T
A
A
C
T
C
A
A
C
C
C
T
T
C
18500 |
REPEAT
|
REPEAT
T
T
T
T
A
A
C
A
C
A
T
G
A
A
T
G
A
A
C
A
C
A
G
G
C
C
C
A
G
A
G
A
G
G
G
C
A
A
G
T
G
G
C
T
T
C
C
C
T
A
18550
A
G
G
T
C
A
C
A
C
A
G
C
A
A
G
T
T
G
A
T
G
G
C
A
G
A
G
C
T
G
G
G
A
C
C
A
G
A
G
C
C
C
A
G
C
C
T
C
C
C
18600 |
var(18591):[A:0.01]
A
A
C
T
C
T
T
C
T
C
T
A
A
T
G
A
T
C
T
C
T
C
CTGTGTCT GTCAGGCCTC ATCAGGGACC
18650
AGAGCTTCTC CCTGTGCTAG CCATCTGTCC CTTGGGACAC CTCCCCAGTG
18700
CCTATCTCCC ATCCCAGACC TCTGCCCCAC CCTCTGGTCC ATCCTCCTCC
18750
TGCTGTGCCT CCTCACTCAA GTGTCAGCAT GCGCATAGCC CTCCGAAGCT
18800
GGAACCACCT T
C
GCTTCAGT TGTCCTCTGA GACCTTGGGT GGAGGTGGCA
18850 |
var(18812):[T:0.01]
GATCCCAAAG CATAAACAAG GGTGTGAA
G
T
T
G
T
T
T
T
T
T
T
T
T
T
T
T
T
A
A
G
A
C
18900 |
var(18879):[A:0.04]
|
REPEAT
A
G
A
G
T
C
T
C
A
C
T
C
T
A
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
G
C
A
C
G
A
T
C
T
T
G
G
C
T
18950 |
var(18941):[A:0.36]
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
A
G
T
T
C
A
A
G
C
A
A
T
T
C
T
C
C
T
G
C
C
T
C
A
G
C
C
T
C
19000
C
C
G
A
G
T
A
G
C
T
A
G
G
A
G
T
A
C
A
G
G
T
A
C
A
T
G
C
C
A
C
C
A
T
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
19050
T
A
T
T
T
T
C
A
G
T
A
G
A
G
A
C
A
G
G
G
T
T
T
C
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
19100
C
T
C
C
T
G
A
T
C
T
C
A
G
G
T
G
A
T
C
C
A
C
C
C
A
C
C
T
C
A
G
C
T
T
C
C
C
A
A
A
G
T
G
C
T
G
G
G
A
T
19150
T
A
C
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
A
G
C
C
C
A
G
C
C
GGG TGTGAAGTTT TTACCTGAG
T
19200 |
REPEAT
T
T
T
A
C
A
A
A
T
C
A
A
G
A
T
C
C
T
G
A
A
G
C
C
C
A
G
A
G
A
G
G
A
G
C
A
G
A
G
G
C
T
T
A
C
A
C
A
GC
19250
AGTCTGGTGG GGCCAGCTCT CATGTCATGG CTGTCCCCAC GACCCTTGTC
19300
ACATGGCCTC ATAGTATTAT CCCTGCTGAA GGGAGGAGGA GGAAGTTTTC
19350
CT
G
G
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
C
C
T
C
C
C
A
G
G
T
T
C
A
A
G
G
G
A
T
T
C
T
C
C
19400 |
REPEAT
T
G
CACAGACA CACACACACA CACACACACA CACACACACA CACACACACA
19450
CACACA
T
GTT CCGTGCTGTG TTCTGAAATA GTATCATTTT GAGGTCTGAG
19500 |
var(19457):[C:0.14]
TGCCAGAAGC CATGTAAGAG AGGAAGCCAC TAC
A
G
T
C
T
T
G
G
G
A
C
C
T
G
G
G
T
19550 |
REPEAT
C
C
T
G
G
C
C
C
T
G
G
T
T
C
T
G
C
A
T
T
A
C
C
A
G
G
G
G
A
A
G
T
G
T
T
C
T
C
T
G
C
A
G
C
C
T
C
A
G
T
19600
T
T
C
C
C
T
C
A
T
C
T
G
T
A
A
T
G
G
A
A
G
G
G
G
T
T
T
C
A
A
C
A
A
C
A
T
C
A
T
C
T
C
T
G
A
C
A
T
T
T
19650
C
T
C
C
A
G
G
C
T
C
T
G
A
C
A
T
T
C
T
G
A
G
A
T
ACACCT AAAT
G
T
A
G
C
T
G
A
T
G
G
C
A
C
A
G
19700 |
REPEAT
G
A
T
T
T
G
A
A
A
T
T
G
G
G
A
G
A
C
C
T
G
T
G
T
T
C
A
A
G
C
C
T
G
T
A
T
C
T
C
A
C
T
T
C
T
T
A
G
T
G
19750 |
var(19742):[C:0.48]
A
C
T
T
G
G
T
G
A
C
T
G
T
G
A
G
T
G
A
A
T
C
A
C
T
T
T
A
A
C
C
C
C
C
C
A
A
A
G
C
C
C
C
A
G
T
T
C
C
C
19800
A
C
A
T
C
T
C
T
C
A
A
A
T
G
G
G
G
A
C
A
C
T
T
G
A
A
A
T
T
T
C
C
T
C
A
T
G
A
A
T
A
T
T
G
A
A
T
G
G
G
19850
T
T
A
TAGAAGA TGACATGGCA TAAATGTGAT TTAAAAAAAA AAAAAAAAAA
19900
CTTATGT
G
G
C
C
A
G
C
C
G
C
G
G
T
G
G
C
A
C
A
C
A
C
C
T
G
T
A
A
T
C
C
A
G
C
A
C
T
T
G
G
A
G
A
19950 |
REPEAT
G
G
C
C
G
A
G
G
G
A
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
C
C
A
G
A
A
G
T
T
C
C
A
G
A
C
C
A
G
C
C
T
G
G
C
20000
C
A
A
C
A
C
G
A
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
C
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
A
G
G
20050 |
var(20004):[A:0.06]
T
G
G
T
G
G
T
G
C
A
T
G
C
C
T
A
T
A
A
T
C
C
C
A
G
T
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
A
C
A
A
T
A
20100
G
T
C
A
C
T
T
G
A
A
C
C
A
G
G
A
A
A
G
C
A
G
A
C
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
T
A
C
A
C
C
A
C
20150
T
G
C
A
C
T
C
C
A
G
C
C
T
G
A
C
C
G
A
C
A
G
A
G
T
G
G
G
A
C
T
C
T
G
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
20200
A
A
GCTTGTGT GAAGAGCATC TACTGAGCTG GGCCTGGTGC TGTTTTAGAG
20250
ACAGAAAAGC AGTAAGAGCC ATTCAGAGTG TGGTGGAGAG ACACATATTA
20300
CAAAAGGCGA TTCTATTTCT GGACGTGATC AACAGCAGGA GACAGCAAGG
20350
TCTGACCTAT AATAGAGATT TTCACATGTG TTTTATCAGT TACTGCTTCT
20400
AATACTCATC CCTGTTTTTC CACATGAGGA AACAGAGTTC TGGGGTTCCA
20450
T
GGCTGGTGA GAGGAGGCGC TAGAGTCTGA GCCCACATGC TCCCCGCTCC
20500 |
var(20451):[C:0.01]
CAAGCCAGGC CTCTGACTGT AACATCAGCA GCGTGCCAAA CAAACCTTAG
20550
ATTTTTTTTT TTAATTAATA TACAT
T
T
A
A
T
G
G
A
C
T
T
C
T
T
T
G
G
G
C
C
C
T
A
G
T
20600 |
REPEAT
T
T
T
C
T
C
A
T
C
T
G
T
A
A
A
T
A
G
G
G
G
T
A
A
C
A
G
C
A
T
G
G
A
C
T
C
C
C
T
C
A
G
G
G
C
C
A
T
T
T
20650
G
A
G
T
G
T
G
C
A
A
G
G
A
G
GCTGAA CCACGCCTCG CCTCAAGGGC AGTGCCACCA
20700
CCTCCCCCAT TAGCCTTGGT AAATGGGAGC AATTTTTAAC AGGAGCAAGG
20750
GCAGCATGCA GACCCGACAA ACCAGTGC
T
T
A
T
T
T
A
T
T
T
A
T
T
T
G
T
T
T
G
T
T
T
20800 |
REPEAT
A
T
T
T
A
T
T
T
A
T
T
T
T
T
A
T
T
T
T
G
A
G
A
C
A
C
G
A
G
T
C
T
C
G
C
T
C
T
T
G
T
T
G
C
C
C
A
G
G
C
20850
T
G
G
A
G
T
G
C
A
G
T
G
G
C
G
T
G
A
T
C
T
T
G
C
C
T
C
A
C
T
A
C
A
A
C
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
20900
T
C
C
A
A
T
G
A
T
T
C
T
C
C
T
T
C
C
T
C
A
G
C
C
T
C
C
C
T
A
T
T
A
A
C
T
G
G
G
A
T
T
A
C
A
G
A
T
G
C
20950
C
T
G
C
C
A
C
C
A
T
A
C
C
C
A
G
C
G
A
A
T
T
T
C
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
T
G
T
T
T
C
21000
A
C
C
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
C
T
G
C
C
T
21050 |
var(21042):[A:0.01]
G
C
C
T
C
G
C
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
G
T
A
T
T
A
T
A
G
G
C
A
T
G
A
G
C
C
A
C
C
G
C
A
C
C
A
G
21100
G
C
C
AAACC
A
G
T
G
C
T
T
C
A
T
A
T
G
C
A
C
T
T
A
C
C
A
T
G
C
G
G
T
C
C
T
C
T
G
A
G
C
A
A
C
C
C
21150 |
REPEAT
T
T
T
G
A
G
G
T
A
G
G
T
A
G
T
G
C
T
A
T
G
C
T
G
C
C
C
C
A
T
G
C
A
G
A
G
G
G
G
A
G
A
A
A
A
T
G
G
A
T
21200
G
C
T
C
T
A
A
A
A
C
G
T
G
A
A
G
T
CCA GAGCAAGACT CCATCTCAAA ATAAATTAAA
21250
TAAATAAATA AAATGTGAAA TCACATGCCT ATGGGTGCAC CACCAGTCTC
21300
AACAGGCAGC CTAGCATCCC AGCGCAGTTG TATCTTCAGA ATAATACTTG
21350
GCTGGGGCTT AAGGAGTGAC TGCAATGTGG GGGATTCTGA GCATCAGGAT
21400
ATATGTGGCA GG
C
AATTTCC AGTGCTTCAT TGCATGTCCC TGTATGGGAA
21450 |
var(21413):[A:0.07]
ATCAC
C
GTCT TAACATCTAA GTGGAAATGA GCA
G
G
T
T
G
G
G
T
G
T
G
G
T
G
G
C
T
21500 |
var(21456):[T:0.02]
|
REPEAT
C
A
T
G
T
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
G
G
A
G
G
A
T
T
G
C
T
C
G
21550 |
var(21536):[-:0.06]
A
G
C
C
T
G
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
G
A
G
T
G
A
G
A
C
C
C
T
G
T
C
T
C
T
21600 |
var(21564):[C:0.01]
A
C
A
A
A
A
A
A
G
T
T
T
A
A
A
A
A
T
T
G
G
A
T
G
G
G
C
A
T
G
G
T
G
G
C
A
C
G
C
A
C
C
A
G
T
G
G
T
C
C
21650
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
G
C
G
A
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
A
A
G
G
T
T
G
21700
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
G
T
G
T
T
C
A
C
C
C
T
A
C
T
G
C
A
C
T
C
T
G
T
A
C
T
C
T
A
G
C
T
T
G
G
21750
G
C
A
A
G
A
C
C
C
T
G
T
T
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
GGCGGCG
A
G
A
A
A
G
A
A
A
T
G
A
21800 |
REPEAT
G
C
A
T
A
G
A
G
T
G
C
T
G
G
A
G
A
A
T
G
G
C
T
A
C
T
G
A
A
A
G
G
T
C
A
A
A
T
A
A
G
A
T
G
A
A
G
C
C
A
21850
G
A
G
A
A
A
T
G
A
C
C
A
T
T
G
G
G
T
T
T
A
G
C
A
G
C
A
T
G
G
A
T
G
T
C
A
C
T
G
G
C
T
C
A
G
G
G
A
C
A
21900
T
G
G
T
G
G
G
G
A
G
A
G
A
C
C
C
C
A
G
A
C
T
G
G
A
G
T
G
A
G
T
T
G
A
A
G
A
G
A
G
A
A
T
A
G
T
A
A
T
A
21950
G
G
G
A
A
G
T
G
G
A
G
A
C
A
A
G
C
T
G
A
G
G
C
T
A
C
T
C
T
G
G
A
G
A
A
A
G
T
T
T
A
C
T
G
T
G
C
A
A
A
22000 |
var(21951):[C:0.12]
G
G
A
G
C
A
G
A
A
A
A
A
T
G
G
G
C
C
A
G
T
A
A
T
T
G
G
A
G
A
G
G
G
T
G
A
T
G
A
G
G
T
C
A
G
G
TATA
22050
GTTGTGTGTG GTGGAGAGTA GAGGCA
A
C
A
T
A
A
C
A
A
A
A
A
T
T
T
A
C
C
A
T
C
A
T
A
22100 |
REPEAT
A
C
T
A
T
T
T
T
T
A
A
A
T
G
T
A
C
A
G
T
T
C
A
G
T
G
G
T
A
A
T
T
A
A
T
A
C
A
T
T
C
A
T
A
A
T
G
T
T
G
22150
T
G
T
A
A
C
C
A
T
C
A
C
C
A
T
T
C
A
T
C
T
C
C
A
T
A
A
C
T
C
C
T
T
T
C
A
C
C
T
T
G
T
A
A
A
A
C
T
G
A
22200
A
A
C
T
C
T
G
T
A
C
C
T
A
T
T
C
C
C
C
A
T
T
C
C
C
C
T
C
T
C
T
G
C
C
C
A
G
C
C
C
C
T
G
A
C
A
A
C
C
A
22250
C
C
C
T
T
C
T
A
C
T
C
T
C
T
G
T
C
C
C
T
G
C
G
A
T
T
T
T
G
A
C
T
A
A
G
T
A
T
C
T
A
A
T
G
T
A
A
G
T
G
22300
G
A
A
T
C
A
C
A
C
A
G
T
A
T
T
T
G
T
T
T
T
T
T
T
G
T
G
A
T
T
G
G
C
T
T
A
T
T
T
C
A
C
A
T
A
G
T
T
T
A
22350
A
T
G
T
C
C
T
C
A
G
G
G
T
T
C
A
T
C
T
A
T
G
T
T
G
T
A
G
C
A
T
G
T
G
T
C
A
G
A
A
T
T
T
C
T
T
T
C
C
T
22400 |
var(22356):[A:0.01]
T
T
T
T
G
G
C
C
G
G
G
C
A
C
A
G
T
G
G
C
T
C
A
G
G
C
C
T
G
T
A
A
T
C
C
C
A
A
C
A
C
T
T
T
G
G
A
A
G
G
22450 |
REPEAT
C
C
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
22500
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
C
A
A
A
T
T
A
G
C
T
G
G
G
T
G
T
G
G
T
G
G
T
G
C
A
T
G
22550
C
C
T
G
T
A
G
T
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
C
A
G
G
T
G
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
22600
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
A
C
C
A
A
G
A
T
C
A
C
A
A
C
A
C
T
G
C
A
C
T
C
T
A
G
C
C
T
22650
G
G
G
T
G
A
T
A
G
A
G
T
G
A
G
A
C
C
C
G
G
T
C
T
C
A
A
A
A
A
A
A
T
A
A
A
A
A
A
T ACATGAAAAG
22700 |
var(22684):[G:0.10]
TTGTAGGGTT GGGTGTAGAC TCTGGAAGGT GGATTTTGAG AGCAC
G
ACAG
22750 |
var(22746):[A:0.06]
TCCACCCAGG CTAAGGAGAG AGAAGAAGGG TGCAGTCATC CAGAGAACCG
22800
GAAGTCTGTC CTCG
C
GTGCT GAGGAGTTGG ATGCTAGGGC CAGGCGTAAC
22850 |
var(22815):[A:0.05]
CTTTGTCTGT TTGTCTCCAG
T
G
C
C
A
G
C
A
C
C
A
G
C
G
C
C
A
A
C
C
C
C
C
C
A
G
C
A
G
G
22900 | Exon 7
V P A P A P T P Q Q 358
C
C
C
C
A
C
C
G
C
C
T
C
C
A
T
C
C
C
T
G
G
T
C
C
C
C
T
T
G
G
A
G
G
C
T
A
C
T
G
A
C
A
G
C
C
T
G
C
T
G
22950
A P P P P S L V P L E A T D S L L 375
G
A
G
C
T
G
C
C
G
C
A
C
C
C
A
C
T
C
C
T
G
C
A
G
C
A
G
A
C
T
G
A
G
G
A
C
C
A
G
T
T
C
C
T
G
T
C
C
C
C
23000
E L P H P L L Q Q T E D Q F L S P 392
G
A
C
C
C
T
G
G
C
G
T
G
C
A
G
C
T
C
C
C
C
T
C
T
G
A
T
C
A
G
C
T
T
C
T
C
C
C
C
A
T
C
C
T
T
G
G
A
C
C
23050
T L A C S S P L I S F S P S L D 408
A
G
G
A
C
G
A
C
T
A
C
C
T
G
T
G
G
G
G
C
T
T
G
G
A
G
G
C
G
G
G
T
G
A
G
G
G
C
A
T
C
A
G
C
G
A
T
C
T
C
23100
Q D D Y L W G L E A G E G I S D L 425
T
T
C
G
A
C
T
C
C
T
A
C
G
A
C
C
T
T
G
G
G
G
A
C
C
T
G
T
T
G
A
T
T
A
A
T
T
G
A
G
T
G
G
C
C
C
T
G
C
C
23150 |
UTR
|
var(23147):[C:0.39]
F D S Y D L G D L L I N 437
T
G
C
C
C
C
C
A
G
C
A
G
C
CTGCCCC CGACTCTACC TCCTCACAGA CAGGCTGACA
23200
GCCCCTCTGC CTGCACAGGG ACATTGGACA CTAGGTGCTG CCCTCAGGGC
23250
ATGGGGTCTC CTCGCCTTTC CTGCCCCAGC
C
GGCAGAAGC TGTGTGGGGA
23300 |
var(23281):[T:0.01]
GATATGAATG GTACGGGTGA GGAGTGGATA AGGGGTGGTC CTCACCTTCC
23350
TAATGGAAGC TGGGCCTAGG GAGGCCCATC CAGTCTTCTG ACTTCTGACC
23400
TCTCACAAGA AGGCTGCAGG TGAGGTGGCC AAGTCCAGGG AAAGGCCCTG
23450
CTACCTCCTT TTGAGGGGTA ATTAGGACCC TCGACGTACC AAGAAGCACA
23500
TAATGCCTTT GTATTTATTT CAGGTTGAGT TGTTTGTTTG TCCTCCCTGA
23550
GTT
T
T
AGCAG GGAGGTTGTT CTAGTTTTTA GTGAGACCTC TGCAGACAGG
23600 |
var(23554):[A:0.01]
|
var(23555):[A:0.01]
CCCATCACTG TCCATGTTCC AGGGCAGGTC TGGGTTTCCA AGGGAGGGGC
23650
CCAGGCTACA TCCTTGGTTT CCCCACTGTG GTGGGGGCTG GGACTCTGAG
23700
GGGCTGTCCA GTCTGC
C
AGA ATGCTAATTG CACTTAGGCC TCATGGTTCT
23750 |
var(23717):[T:0.49]
AGTAAACGGC AGCTGTGGGC CCTTTTGCCT CTTCCCCTGT TC
T
TGGCCTC
23800 |
var(23793):[C:0.02]
ACATCTCCAG CTGAGCTGCC GGTCTTGGCT TCCTGGTCGC CTCTGTCCCA
23850
GAGATGGTCC CAGGGAGCCA TCCTAGGGCA GGTAGCACTG AGGCTCCTGT
23900
GGAAACAGGA GCCACCTGCT CAGGAGACCC CTTTCCTGAG GAAGTCCTTA
23950
CCTCTCCCCT TGAGATGTAA AAATGGTCCA GCAGAGACAA GCTCCCGTGG
24000
AAAACAGACA GGAGCATGGG GGCAGCTGTC ATGGCTGTGG CGGGCACTTT
24050
TCCTCAGAGT TTCTGCCTTG CGCTGGTCCA GGAGCCATTT TGCACCAAGG
24100
ACTTGGTAGG CAGAGGCAGC CCCACTGTAA AGAAGGGTCA GATTAAAACA
24150
AAAAACTGCC AAAAGCATCC CCTCTGCCCC CCATGTGGCA CTGGCATCAT
24200
TCTCTGCTTC CCTGGGAGGA ATTTTTTCAC CATGTTATTG AAGGGGATGG
24250
TTCATTAAGG ACTCCACCCC TCAGAGCTCA CTCAGACCCC AAGGACAGAG
24300
GTGACTGGGG CTTGGTGACT TGTTCACTCC TT