MAP3K8 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
AATAACTTGA CGGATGACAG TGCCCATTCG TCATCGGCCC TCGACGTTGG
50
ATTTGCTACC TGGGCTTGTT GTCTGCGAGT TAAGGTCCTG CAAAAAGCCC
100
CTGGCTTGTC ACCTCAACTA ACCTATCTCC TCCAGCAATT CTCTCAATAC
150
ATCCTCGGGT TGTATTGTAA TTCATTTTCC ATAGCAGAAA TGTGGAGGGC
200
TCTAGAGAAG GTACAAGGCA AATTTTTTTT TTAAATTTTA TTTTT
G
G
T
T
G
250 |
REPEAT
G
C
C
G
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
C
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
G
G
300 |
var(257):[T:0.03]
|
var(275):[T:0.01]
A
C
G
A
A
T
C
A
C
C
T
G
A
T
A
T
C
G
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
350
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
G
C
A
T
G
400
C
C
T
G
T
A
A
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
A
T
C
G
C
T
T
G
A
A
C
C
450
A
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
T
G
G
T
G
A
G
C
C
C
A
G
A
T
C
G
C
T
C
C
A
T
T
G
C
A
C
C
C
C
A
G
C
C
500
T
G
G
G
C
A
A
C
A
A
G
A
A
C
G
A
A
A
C
T
C
A
G
T
C
T
C
A
A
A
A
A
T
T
T
T
T
T
T
G
T
T
T
T
A
T
T
T
T
A
550 |
REPEAT
T
T
T
T
T
T
A
A
A
T
T
T
G
A
G
A
C
A
A
G
G
C
C
T
C
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
C
C
600
A
T
G
G
C
G
C
A
A
T
C
A
T
A
G
C
T
C
A
C
G
G
C
A
G
A
C
T
C
G
A
A
C
T
G
C
T
G
G
G
C
T
C
A
A
G
G
G
A
T
650
C
C
C
C
C
T
A
C
C
T
C
A
G
C
T
T
C
C
G
A
G
G
A
G
C
T
A
G
G
A
T
G
A
C
A
C
G
C
G
T
G
A
G
C
C
A
C
C
A
T
700
G
C
C
T
G
G
C
T
A
A
T
T
T
T
T
A
G
A
T
T
T
T
T
T
G
T
A
G
A
G
A
C
G
G
G
G
T
A
G
C
T
A
T
G
T
T
G
C
C
C
750
A
G
G
C
T
G
G
T
C
T
C
C
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
G
C
C
T
C
G
G
C
C
T
C
C
800
A
A
A
G
C
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
C
G
C
A
A
C
C
G
C
G
C
GGAGGC AATCTAGAAA
850
CTGCAGAGGG AGCACG
G
ACC TGGGCACTGG GAAGAATAGG GCGTGGACTT
900 |
var(867):[A:0.08]
GGAGTGTGAC CGCGTTTGAA TCTGGGTTGT GCCTGGGACA CCCCACCTCC
950
TGGGCCGT
A
G
G
TGG
G
GGGGG AGAGAGAGAG AGAGAGAGAG AGAGAGAGAG
1000 |
var(959):[G:0.05]
|
var(961):[T:0.29]
|
var(965):[T:0.17]
GATGTCGACC TTACATGGCT CCTAGCTCTC CGCGCTCTAG CCGAATGCCT
1050
GGTTCCTAGT GGGTGCTTGA TACGTGGGAA ATGTAGGGGG AGGGGGTGGC
1100
GGGGCATTGG GAATGTCCCG CAGAGTGGAT TTCGGGAGAG TGGCGCTTTT
1150
CTCTAGAACT CTCTTCCGGT TACACCTGGA GTAAAAGCTT GACACTCTAG
1200
AAGGAAAACC CCAGATGAGC AGCTAGGACT GAGGGTTAGC GGTAGGCGGG
1250
AGCGGGGAGA TAGTACAAGT ACGCTTCCTA ATGAGGCGGT GCCGCAAAAT
1300
AACCAATTTT AATAAAGACT GCAGAGAAGA AAACCAGGTT CTGCTGGCGG
1350
AGTGCACAGG CTCCCAGCCG AGCGCCCAAC AACCAGGTTC C
G
GGCCCACC
1400 |
var(1392):[C:0.01]
CTGCCGCAGC CTCTTGGAAA TCTCTAAGTT GGAATGTGTG CGTGCGCACC
1450
ACGGGTCACT GCCCTCTTTG TGTGTGAATT TGAAGCGAAA TCTGGGCGAG
1500
GCGGGGCCGT GCTACTAGCA ATCGGACCCA CAGTCGCGGT TCCAAGAAGC
1550
CCCGAAGCTT CCCCGGCTTC CCGCAGCACT GCTGGGAGGG CACACGGCGC
1600
CTCTGTCCCC ACCCCAGAGC GTGGGGCGCG CGGAAAAAGG TCTGGTGACT
1650
GCCCTCCCCG CCGCCCCCCG GGAGCGTGCC CTCCCGCCGG ACCCTGGGAC
1700
TCCAGAGAAG CGCCGAGGGC GCGAGTACAC TAAGATATAC GACCTTCCCT
1750
GGGGACCGGG AAGGGCACAA CCACCTCTTG C
A
ACTCCGCC ACTAAGACGC
1800 |
var(1782):[G:0.01]
CTTGGGTCAC CAGGCCCGGG GGAAAACTCG TCCCCGTCCC AGGCTCTCGA
1850
TTCG
G
GCCGC AGCTCACGTC CCGCGCTCCT CCCTGCGCGC CGCTCT
G
CTC
1900 |
var(1855):[A:0.03]
|
var(1897):[T:0.01]
CTCCCTAGTC CCGCCTCCAG CTCCGCC
C
G
G
G
C
G
C
C
C
A
G
A
G
G
G
C
A
A
A
T
G
A
G
1950 | Exon 1 |
UTR
G
G
G
C
G
G
C
G
G
G
G
T
G
G
C
G
G
G
T
G
G
G
G
G
G
G
A
G
A
C
G
C
G
G
A
A
T
T
T
C
C
C
A
G
C
G
C
G
G
G
2000 |
var(1970):[C:0.38]
|
var(1971):[A:0.03]
|
var(1972):[C:0.03]
G
G
C
T
C
T
G
G
C
T
T
A
C
C
C
T
G
C
A
A
C
C
G
G
G
C
A
G
T
C
T
C
T
T
T
C
T
G
T
T
T
A
C
G
G
A
G
A
G
A
2050
A
A
G
G
G
G
A
A
A
T
G
G
A
A
A
A
G
T
C
G
G
G
G
A
G
G
C
G
G
T
G
G
C
T
G
G
C
G
T
C
C
G
C
T
G
C
G
C
C
G
2100 |
var(2088):[A:0.25]
C
C
C
C
T
G
G
G
C
A
G
G
C
T
C
A
G
A
C
G
C
C
G
T
G
A
G
T
C
A
G
G
G
G
C
A
G
A
G
C
A
G
G
G
C
G
G
T
C
T
2150
G
A
G
C
G
T
G
C
G
G
G
C
G
A
C
G
C
G
G
G
T
C
T
C
A
C
T
C
G
T
C
C
G
C
T
C
C
G
C
T
C
T
G
G
A
C
T
G
C
G
2200 |
var(2175):[C:0.01]
|
var(2179):[C:0.01]
C
G
C
C
A
C
G
C
T
C
T
G
G
G
G
T
C
C
G
G
C
G
C
C
C
T
G
G
T
T
C
C
T
G
C
T
T
C
T
G
C
C
G
C
T
G
C
C
G
C
2250
C
G
C
C
G
G
A
T
C
C
C
A
G
T
G
G
C
C
C
G
G
C
G
T
G
C
T
C
G
G
C
T
C
C
C
A
C
A
G
G
C
C
T
G
C
A
G
C
C
A
2300
G
C
A
T
C
G
C
A
C
C
G
A
A
C
C
T
T
C
G
G
G
G
G
G
C
C
G
C
G
G
C
T
G
G
A
G
C
G
C
T
C
G
G
C
C
G
G
C
G
T
2350
G
G
G
A
G
C
G
C
C
A
A
G
G
C
C
G
C
A
G
G TAATCCAGGG TTGGGGGTCT CCGGCGTGTC
2400
TTTCGGGTCG CGTCCCGCCT GGGTGCCCCG GGGATTCCCA TGCAGAAATG
2450
GAGGGTGCCC CCAGCAGAGG GGAAAACTCT GGCGTGGGAA GAGGTGGGGG
2500
CGTGCCCACA GCTGCGCTCG CGGGT
C
GCCG GCTGCACCAG GCACAGCTGG
2550 |
var(2526):[T:0.02]
AAAGCACCTT GCGCAAGGGT CTCACGGGGT GCAGACTCGC GACTCCTCCC
2600
CCTTCCTCCT CCTTCCCGTA TCCGCAGCGC CAGGGCAGTG CTGGTCTGGG
2650
CAGT
A
CGCGG GGAAGCGGGG ACCCGCTGTC ACTGCGCCTC CCGCTGCCGA
2700 |
var(2655):[G:0.24]
CGCCGCCTGG ACGGCCGCAC TCTCCCTGCC CGAGACCCGG TGAGTGCAGC
2750
TCGGAGGCTG GAGGACC
C
GA TCCTCCCAAA TGCTGGGTGC TTTGATAATT
2800 |
var(2768):[A:0.26]
TATAAGCCTT TTAGGCTCCC TTGACTTAGA GAACCAGGAG GAAAGGAGTG
2850
GGAGTGTGGG TTGGCGGAGC CCAGAGACTT GTGAATGGCT GG
A
ACTAAAT
2900 |
var(2893):[G:0.41]
TCAAGTTTGT AACCCGGACT CTATCCCATG ACTAAAGAGG TCATAGCAGA
2950
ACACGAAGGC TG
G
GCTTTTG GTCTAAGAAA GAATACTAGG AGAAAAAAAA
3000 |
var(2963):[A:0.03]
AGTTATTTTC ACGGAAGTTG TTTTCGAGC
G
ATAGTGCATG ATCAGGACTC
3050 |
var(3030):[:0.01]
TGAAATTTTT CTAGCTCTGG GCGGAGAAGG ACGCCTAGGG ATTGTCTCCA
3100
TAGTTAACAG GGGAAGGCCA CCGGCTGCCT GTAAGAGAGA AACGTTGCGA
3150
TGCTTGTCTA TTTCACTTTT GGGAAGACAA GATTAAAGGC TGCTCTTGAT
3200
AAAAAACAGG GACAGAAAGG CTCTTGCAGT TGCTTTACAT ACCTGTGGCC
3250
TGAGTCGTTT GTGCCAAGGA GAGTGTAATC CACTTCCAGC TGACGCCCCC
3300
AGCTCTCTGC GACGGATTGA GGTTTGTGTG CAGGACGTCT GGCATACGGC
3350
CCATGAGGAC TTTGTCGTGT AAAGCAAATG GGAACGTTGA GGCA
T
GTAGA
3400 |
var(3395):[C:0.02]
GGTTTTGAAG CAGAGTGTCG GTCCTTCCTT CCATACGCCT GAAACGCATA
3450
ATCCGGGGCT TTTTGAGAGC AAAAACATAG TCAGAAATGT GCCCTGAGGG
3500
AGAATGTACT ATTTTGGCAC ACATATGTAT ATATGTATAT ATAATTTTTA
3550
AA
T
T
T
T
T
T
T
T
G
A
G
A
G
G
G
G
G
T
T
T
C
A
C
T
C
T
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
C
G
C
A
A
3600 |
REPEAT
|
var(3564):[:0.34]
T
G
G
C
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
A
C
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
A
T
T
3650 |
var(3646):[T:0.01]
C
T
C
T
T
G
C
C
T
C
A
G
C
C
T
C
C
C
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
G
C
C
C
G
C
C
G
C
C
A
C
3700
G
C
C
C
G
G
C
T
A
A
T
T
T
T
T
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
3750
T
C
T
T
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
G
G
T
G
A
T
G
C
A
C
C
C
T
C
C
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
3800
C
T
G
A
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
T
G
T
G
C
C
C
G
G
C
C
TAAAAA AATATTTTAA
3850
ATGAGAAATA ACACAAGTAA TAGTCATTCT TTGTTAGGCA GAAGCATATG
3900
CTGTTATGCT GGCCATTTTC ATTCACACTT GCC
A
GGAAAC ACTCACATTT
3950 |
var(3934):[G:0.02]
TGTTTCTGTA TATGGAGGCA GCCAAGAGTA TTATGTTAAT GTTTAGGAAG
4000
AGAATTTCCT CGTGATTTTA TTGCTGATTT CTGAAATAAT TCAGTGTAAC
4050
TAATTTTGAC TGTATTTGCA CATCTCTCCA ATTCCAAAAG CTGGCATAAT
4100
TTTCTGTTTG GTTAGGAAGT AGGAATTTTA TGAGGACTTT TATTGTAAAC
4150
TGTGTCAAGG GAAAAATCAT CTTATACTAA ACGTCTTTAT TGCCAAACTA
4200
GAATACCTTC ACAATCTGAA CTTT
C
TCTAG ATGGGCACAG ATCATGAATA
4250 |
var(4225):[T:0.01]
ACTCAGAAAC CATTAGCATA TTGTGTGCTT AATTAAGGCT GGAAAGTGCT
4300
GAGGCTTTTT GCAGGCGCAG TTAGCAGGCG AACTGGTCAG CAGGGTTTCT
4350
GGGGAACGTA GATTTGCGTG ACAGGGGCCC TGTGTTGCTA AGGAATTA
A
T
4400 |
var(4399):[C:0.20]
GCAGGCACTG AGAAAAGTCT CAGCGTCAGA CACTCCTCCA CCTCCCGGGT
4450
CCTGCTTCCC TCCCTCTCCC CTTTCCAGGC AACTCACAGT TTAGGGGTGT
4500
GGTTGTGTGT GTTCAAGCTC TTGGGTTTTA CATATAAATG CCTGAGACTT
4550
TTCTGCAGGG TTTAAAAACT AACATCTTGT CTTACAGCTC TTTTAGGATT
4600
TGTCTTTTAG AATCTCCAGT CCTCACAGGA AAACCCCCCA ATTAAAAAAA
4650
TAAAAGAATA AAGAATAAAA AGAATACCAC TACTACTATA AAAAAAAAAA
4700
AAATCCTCTA AAATTTGTCT TCCCAGATCA GCAGAGTGAA TTTGAACTGT
4750
GTGGACTTTT TTCCTCTTTC TTTCTTGAGT CATGTTAGTA CTGAGAACTT
4800
TTTTTTTTTC TGTCAAATCA TCTGTTTGAT AAATAAGTCC AGGAGAC
T
TG
4850 |
var(4848):[A:0.03]
GATCCTTTCA ACCCCTGAGG CCCTAAATTA GGCTGTTTTT TTTTTAACCT
4900
CTGTGTTTCC AGTAAATTCG ACAAGCAGAA ACTGCAACTA AACGGCTCAG
4950
TAAAACCGAA GTCAAATGTT CCTCCATTAA TCTAAGAAGT TGCTCTCCTA
5000
ACTCAG
C
AGA CTCCAAGAAC CTGAATCACA ATCTCCCTCG AAGATGTACA
5050 |
var(5007):[T:0.04]
AGATCTCAGG AGGGGAAGCT GCCCCCTCAC TCTAGATTTC ACGGTGGTGA
5100
TAACAGCCAT GAAAGCATTT CATAGGTTTC TGCCTTTTTT TTCTCTCTCT
5150
TTATGTCTTG TTTTAG
A
T
G
C
A
A
T
C
T
T
C
T
T
A
C
C
G
C
G
A
A
G
A
A
G
C
C
A
G
G
G
G
A
A
5200 | Exon 2 |
UTR
T
A
G
G
T
A
G
C
C
A
C
A
T
C
T
T
G
T
T
T
G
C
A
G
A
T
A
A
G
A
A
A
G
G
A
A
G
C
T
A
A
C
G
C
A
G
T
A
T
C
5250
T
G
C
A
A
A
G
C
C
A
G
G
A
G
T
C
T
G
A
C
T
C
A
G
T
A
C
T
T
T
T
C
T
C
A
C
T
C
A
T
G
C
A
T
A
C
A
A
A
G
5300 |
var(5266):[G:0.01]
C
A
G
C
T
A
A
A
A
A
T
G
A
C
A
C
A
G
C
T
T
A
T
T
T
A
C
C
A
T
G
C
C
C
C
T
G
A
C
A
C
T
G
C
A
C
T
G
A
G
5350 |
REPEAT
C
A
C
T
T
T
A
T
G
A
G
C
T
T
G
A
A
C
T
C
T
G
T
T
A
A
T
C
C
T
C
A
C
G
A
C
C
A
C
C
T
C
A
T
G
A
G
G
T
A
5400
G
G
T
G
C
T
G
T
T
A
T
T
A
C
T
T
C
C
A
T
T
T
T
A
C
A
G
A
T
G
G
G
G
A
A
A
A
T
T
G
A
G
G
T
C
G
A
G
A
G
5450
A
G
G
T
T
A
C
G
T
T
A
C
T
T
G
C
T
C
A
A
C
G
T
C
A
T
G
C
A
A
G
C
A
G
T
A
A
A
T
G
G
G
A
G
T
G
T
G
G
G
5500
G
G
G
A
G
G
C
A
A
T
G
A
G
A
T
T
T
G
A
C
T
C
C
A
A
G
C
A
G
T
C
T
G
A
G
A
C
C
A
G
A
G
GAATGTTG
5550
GATTGCAGGA TGCTAAACTG CTTTCCTCAG ACACAATTCA TACGTCAGAA
5600
AATGACCATC AAGTAAGTGA ATGATGACAC TAAATTGCAT GGTTCTTTTG
5650
TCAAATGAAA TTCACTGAGA GGCAGATGGC TGGGTCATGC GTGCAGGTGG
5700
CTCTGCAGTG GAGCATTTCC TGGAGCTTTG AAATGAAGCT CCAGATTGAT
5750
CAGACGTGC
G
TGGCTTTAGC CCTGAGTGTC CTGTGTGTTA AAGGCTTGTG
5800 |
var(5760):[A:0.05]
CTTCTCAGAA CTTGAAATAC CTTTCAGAAA GAGGCTATGC TTTTGGGAGT
5850
GCAATCGGTG ATTTAAGTAA ACCAATGTGC CTTGAAATTC TCTTAGATCT
5900
CTTAGG
A
CCT TTTGTCTTTT CTCCTTCAGA ACAGAGTTGT TCTAAAATCC
5950 |
var(5907):[G:0.24]
TGAGTAACAA CGTCAGTTTT TAC
C
CTTGCT TTACTTTCTT TTTCTCATCT
6000 |
var(5974):[T:0.05]
ACAGATCTCC AAGTGTGGCA GCTGATTTGT ATATAAGAGC TGAAATGCAA
6050
TTTTGGTTAA TATAGTCACT TGGACTTGCT TATGATAAAT TTGACTTTCC
6100
TGGCTTCTTT CTACTACTCA CAGCTTCTAG AAGGCCATTT ATTTA
G
ATAT
6150 |
var(6146):[T:0.41]
TAATCTTCTG GGACCCTCAA GATGTTTGCT TTGCACTATT AAAGAATTCT
6200
GGTCCTAAG
G
GAGGACAGCT GAATCATAGG TTAAATGTAT CATCATCTTT
6250 |
var(6210):[A:0.01]
CTCATACTCA TCACTGGGAG AACAAGGTTT CCTGTCATCC TTCCAATTAG
6300
CTGTTTAACT CATTTGCATA AGAATCATTC CTGAAACTTG ACCTATTGCC
6350
ATCAAATTTG TGTAGATTGA AATCCATTTT TCCAGCTTCT GGCTTTCAGG
6400
GCCTGAGTTT TATTTGCCAA GTTAGCTCCT GCATTTAGTG AAGAGGTTAT
6450
TTTTCTTTAA AGTCACCAGA GGCATAAAAA AGCCATAG
C
G ATTCTTGCAG
6500 |
var(6489):[T:0.02]
GGAGGGTGCC ACTT
C
G
GGGG A
A
TAGCTGGG TTGTGTAAGG TTGGAAGCCC
6550 |
var(6515):[T:0.02]
|
var(6516):[A:0.34]
|
var(6522):[C:0.01]
TAAAGAGCCG GTAGCCTAAG GTCTTCAAAG ATTTCTGAGC TGCTCTTGAT
6600
TCGTGTGT
A
T GTTTAGTGAA AGTTTGTTTT CAGTGCCTGT AGCTGATACC
6650 |
var(6609):[G:0.01]
ACTGACTCTG TGAGTAAGAG TAAG
C
T
C
T
C
T
G
G
A
T
C
T
C
A
G
G
T
T
T
C
C
C
T
C
T
G
6700 |
REPEAT
C
A
A
A
G
T
G
A
G
C
T
G
G
A
C
T
A
A
A
G
G
T
T
A
T
C
T
T
A
G
G
T
C
C
C
T
T
T
C
A
A
C
T
C
T
G
CACT
6750 |
var(6702):[T:0.05]
GTCAACTTGA ATTCATACAC ACAGTTGACA CAGAACCCTC G
T
TTTCTGAA
6800 |
var(6792):[C:0.05]
CAAAAGCATA TAAAATCCTG TTGCCAATCC TTGTATGTCA GTTTCCCAT
G
6850 |
var(6850):[T:0.06]
GGTCTTGAAT GCAAATACAA ATATCGTAAA CTAAATATTT GTGTTTTCTT
6900
TCCTAG
A
C
T
C
T
C
C
A
G
A
A
A
G
A
G
C
A
A
C
A
G
T
A
A
T
G
G
A
G
T
A
C
A
T
G
A
G
C
A
C
T
G
G
A
6950 | Exon 3 |
UTR
M E Y M S T G 7
A
G
T
G
A
C
A
A
T
A
A
A
G
A
A
G
A
G
A
T
T
G
A
T
T
T
A
T
T
A
A
T
T
A
A
A
C
A
T
T
T
A
A
A
T
G
T
G
T
C
7000
S D N K E E I D L L I K H L N V S 24
T
G
A
T
G
T
A
A
T
A
G
A
C
A
T
T
A
T
G
G
A
A
A
A
T
C
T
T
T
A
T
G
C
A
A
G
T
G
A
A
G
A
G
C
C
A
G
C
A
G
7050
D V I D I M E N L Y A S E E P A 40
T
T
T
A
T
G
A
A
C
C
C
A
G
T
C
T
A
A
T
G
A
C
C
A
T
G
T
G
T
C
A
A
G
A
C
A
G
T
A
A
T
C
A
A
A
A
C
G
A
T
7100
V Y E P S L M T M C Q D S N Q N D 57
G
A
G
C
G
T
T
C
T
A
A
G
T
C
T
C
T
G
C
T
G
C
T
T
A
G
T
G
G
C
C
A
A
G
A
G
G
T
A
C
C
A
T
G
G
T
T
G
T
C
7150
E R S K S L L L S G Q E V P W L S 74
A
T
C
A
G
T
C
A
G
A
T
A
T
G
G
A
A
C
T
G
T
G
G
A
G
G
A
T
T
T
G
C
T
T
G
C
T
T
T
T
G
C
A
A
A
C
C
A
T
A
7200 |
var(7163):[C:0.41]
S V R Y G T V E D L L A F A N H 90
T
A
T
C
C
A
A
C
A
C
T
G
C
A
A
A
G
C
A
T
T
T
T
T
A
T
G
G
A
C
A
A
C
G
A
C
C
A
C
A
G
G
A
A
T
C
T
G
G
A
7250
I S N T A K H F Y G Q R P Q E S G 107
A
T
T
T
T
A
T
T
A
A
A
C
A
T
G
GTACG TTTCTTTCCG ATCAGTTGGG TGCTATGTGC
7300
I L L N M 112
TCAGCTTTCC T
A
CTGCAGCT TCATTTAATG CAGAGTGGTG TTTGAATTTG
7350 |
var(7312):[G:0.43]
GCTTAGATGG GCTGGCAGGC ATGATTTTAA AAAATGTAAT CATCAGTAAG
7400
AAGTACTTCC ATGTTAAAGA TGCAAAAAAA AAAGTCTTCA TTAAAATTTC
7450
TATTTAAAGA TTCTTGATCA TATTTTAGTA GTATTTCTAC AAATAGGTAA
7500
TTAAGAAGAA TGTATTTT
G
G
C
C
G
G
G
T
G
C
A
G
G
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
G
7550 |
REPEAT
C
G
C
A
C
T
T
G
G
A
G
A
G
G
C
C
G
A
G
G
T
G
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
C
A
A
T
T
A
G
A
7600
G
A
C
C
A
G
T
C
T
G
G
C
C
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
7650
T
T
A
G
C
C
T
G
G
C
A
T
G
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
A
A
T
T
C
C
A
G
C
T
A
C
C
T
G
G
G
A
G
G
C
T
7700 |
var(7669):[A:0.02]
|
var(7672):[T:0.19]
G
A
G
G
C
A
C
G
A
G
A
A
T
C
C
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
G
A
G
G
T
T
G
T
G
A
T
G
A
G
C
C
G
A
7750
G
A
T
C
A
C
A
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
T
G
T
G
A
C
T
G
A
G
T
G
A
G
A
C
T
C
T
G
T
C
T
C
A
7800
A
C
A
A
C
A
A
C
A
A
A
G
A
A
G
A
A
TGT ATTTTAATTT AACAGTTCAC TAAAAAGTTT
7850
ATTCATCAGT TATGCAGAAA AGAAAGGCTT AATGAGACTC CTTCGTCTGA
7900
GAGGGGAATA AACACTTTGT CACTAATTAA TCTTGAAGGC TGAATTATTT
7950
GTTCCTTTCT TGTCACATCT TGAAATGTTA TTAATTCATT TCTTGCAAAA
8000
ATGTAGTATG TAGGCAGTAA ATAGCTATCC ACAGATTCAC TCTCTTTCAT
8050
TGGCAAAGTA TGAATGGCAA GTGATATATT TGCTTAATCA TCGCAAGTAT
8100
GCA
A
ATCATG CAAAATATTG TGGCAACATT TTGTTGCC
A
T AATAGTAGAT
8150 |
var(8104):[T:0.01]
|
var(8139):[G:0.05]
CAGGTGATGT GTTTAGGTGT GCCTGGGATT CTGTCAGGCT TTTAGTATGT
8200
CAGAGGTGAA CGTAGGTGCT GGCTAAAGGT AACCTAATAT TTTTAAAAAG
8250
AATAATTTGC AAAGGAGTAG GTGGTAGCTT GCAA
A
ACATG CTTATTGATG
8300 |
var(8285):[G:0.02]
AAAGTGACGC CCTTTCTTTT GGTGTATCTA AATGGCAAAA TGGCTAATGT
8350
TGGGGGAAAG TCGGTGCTGA ATGAGTGCGG AGTCCAGAAA AAGTACTTAA
8400
TTATTTTG
T
T TTTTTGCATA CCACATTCAT TTAATTAAAA ACAACAGAGT
8450 |
var(8409):[C:0.17]
AATTTAGGTC AGGTATGTAG TGAATTGTTT TGTCAGAAGC CAGTCATACT
8500
CAACCATAGC TCACAATGGA GCAAGATAAT ATTTTGCATT GTTGTGTGAC
8550
TGCTTTGGTC TGGCTCTATC AAGCTCTATT TAATAGTCGA CTAAGTACTT
8600
TACCTTCAGA ATATTTCTTC CTTTTATAAA TGAGAAATAA TCATTTGAAC
8650
TAGAAGCCAT ATCTGATTTT CCCAAATAAA GGATAGTTGG AGAACTCGGG
8700
TTCAAAGTTA TATATATG
T
C TATACCGAGA AATATAATTG TTTGTGTATT
8750 |
var(8719):[C:0.04]
TCTCTCATTT TTAA
C
GTATT TATTTGTTAA AA
T
GGGAATT AAATTTTTTT
8800 |
var(8765):[A:0.06]
|
var(8783):[A:0.03]
T
A
AAATCCTG CTCCTTCTAT AAAAATGAGT ATTTTAAATG AAAATATGCA
8850 |
var(8802):[T:0.05]
GAAAAAAAAC CAAAGTATTC TTGCTTGTAA ATATGCAAAG ACTTA
G
GTAT
8900 |
var(8896):[A:0.01]
GTTTGCTTAT TCCGTGGCCT ATCTGGGAAT GT
A
CAGAAAG AAATTCAGGA
8950 |
var(8933):[G:0.01]
AATTTAGAAG AAATACAAAG AAACAACATT CTGAAGTCTT TTAGGAATGG
9000
GACCAGAAAA GTTAATCCTA AAAAGAAGAG AGACTAAGAC ATTAAGATGA
9050
GGATAAAATT GTATCAGCAA AGGGTTTGAG TAAAATGTTG TCATTACCTG
9100
CTGTGGGTCC TGTGCTCTTT AAAAGAACAA GTACATAATT AAGGAGAA
T
T
9150 |
REPEAT
C
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
G
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
G
G
A
G
T
9200 |
var(9169):[G:0.01]
G
C
C
G
T
G
G
C
G
C
A
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
T
C
T
C
C
G
C
C
T
C
A
T
G
G
G
T
T
C
A
A
G
C
9250
A
A
T
T
C
C
T
C
T
G
C
C
T
C
T
G
C
C
T
C
C
C
G
A
G
T
T
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
C
T
C
T
G
C
C
A
9300
C
C
A
T
A
C
C
C
G
G
C
T
A
A
T
T
T
T
T
G
T
A
T
G
T
T
T
A
G
T
A
G
A
G
A
T
G
G
G
T
T
T
T
C
A
C
C
A
T
G
9350 |
var(9324):[T:0.05]
T
T
G
G
C
C
A
G
G
C
T
G
G
T
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
T
G
C
C
T
T
G
9400
G
C
C
T
T
T
C
A
A
A
G
T
G
T
G
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
T
G
G
C
C
AGG
9450
AAAAATTTTA AGAATAAACA AATACATAAG TAAAGGCAGG GATCTTGAAA
9500
AACTTTAAAA AGATTTTTAT TTTAAAATGA TCAAGAATAT AACATATAAA
9550
ACAAGAAGAC TAAAAAACAG AA
G
AGAATAA GAGGAGGACC TTAAAATCTA
9600 |
var(9573):[C:0.05]
TTGGATCTTA GATATGGCCT CGCTAGGCAA ATCGACCCAG TGGTCGATGG
9650
CTCTGGGGGG CTGCGGTTGA CTTTCCTGCC ACTCACATTA AAGATGGACT
9700
ACATTGCTGT GCCTGCTAGG TAACCCATCA GAGCTCCATG CTTCATAAAT
9750
GATAGCCTAG GAATTGGGAC TGTCATCTCT GATTGTAGTC ACTTCAAGAC
9800
AGTAGTGAGG GAGGCAAGGC TTGCTTTCGG CTCCCTTTCA TCCTCACGTG
9850
GAACATTGGA ACCACCCAAT GTTCAAGATC TTTCT
A
TTCC CATCATCTTC
9900 |
var(9886):[G:0.06]
CACCCACTAC CCTATCAGAA CTTTACTCAC TGGGCTTCAT TTGCTGCTCT
9950
CTAACTCTC
A
GCTTTAGGAA AATAGCAGCT GATTGGTTCC TAGGTAAAAT
10000 |
var(9960):[G:0.06]
CCATCTATAT GAT
G
TATCTA CATAGGGATG GGGAAACTTT CATTCAAGTA
10050 |
var(10014):[A:0.01]
TTTACCTATT CATTTGCTAG ACACAGCTTG GACATCTGCA GTGCGTCGGG
10100
TGCTAGAGAT AGTATGGAAC AGTCTGTGCC TCTGGGAGCT TGCTGCCTGG
10150
TGCATGCAGG ATGCAGTTGA ATAGGCAGTT ATAGCAGAGT ATGCTGCTTC
10200
CCAGCAC
G
TG TGCATGCTGT TTGCTCTGGC AG
T
GCACAGG CAGGATACTT
10250 |
var(10208):[A:0.44]
|
var(10233):[A:0.34]
TACATAGCCA TGAGTGTGGT AGAAGGAAG
G
A
G
A
A
T
G
T
C
A
G
C
A
C
A
G
C
C
T
T
C
10300 |
REPEAT
C
A
A
G
A
A
G
G
A
T
T
T
A
T
G
C
C
T
A
A
G
C
C
G
A
G
G
T
C
T
G
A
A
G
T
G
T
T
G
A
G
T
T
G
G
A
G
T
C
A
10350 |
var(10324):[A:0.01]
|
var(10343):[G:0.08]
G
C
T
A
G
A
T
G
A
A
G
T
G
G
A
C
A
G
G
G
T
C
C
A
G
G
T
G
G
A
G
A
A
A
A
C
A
G
C
A
T
G
T
G
C
A
G
A
G
G
10400
T
C
C
A
G
A
G
A
C
A
T
G
G
A
G
A
C
C
T
G
A
T
G
T
A
T
T
C
A
G
G
C
A
G
C
C
A
A
C
A
A
CCACAACAC
10450 |
var(10410):[C:0.01]
CATTGAGTTA TTTAGACAGG GT
A
GAGAACC AGGAATTACA AAAGCATCCT
10500 |
var(10473):[G:0.32]
GAAGAACAGG CATGTTCAGT GATTGTGTGT GTGATTTGAC TAAAAATAAT
10550
AT
C
TGTTAAA GATCCCACCA ACATCCAGCA AGATCTGGGG AAGAAGCTTT
10600 |
var(10553):[T:0.26]
GGGAGACTAA CCTGGGAATT GCTTTGGGTA AGAGTGCTGC ATGTTATTTA
10650
TCATCTACGC TGATTCATAA CCTGGCCCGG GAACAAATAA TCTAAAATGA
10700
G
TTCCAAACA CTCAACTCTT T
G
GTGGTTTT ATGGGGACTG AAGGACCCCA
10750 |
var(10701):[A:0.20]
|
var(10722):[T:0.20]
AAACCTTCAC CCCTTTTTTA CAACTTTATA TCTATAAGTG TGAGAGCTGA
10800
AGATGTTCCT TAGGGCTTAG TC
A
T
G
G
A
G
T
C
A
T
G
G
C
T
T
C
T
C
A
G
A
G
T
T
G
A
A
A
10850 |
REPEAT
A
A
G
C
C
T
T
T
A
A
G
A
T
A
C
T
T
G
A
G
T
C
C
A
G
C
C
C
T
C
C
G
T
C
T
A
G
T
A
C
T
C
A
A
A
T
C
A
C
C
10900
C
T
G
T
T
C
A
T
C
A
T
C
T
C
C
A
A
T
A
A
T
T
G
G
T
A
G
A
A
C
A
T
T
T
T
G
G
T
A
T
G
T
T
C
T
T
G
A
A
A
10950
A
T
C
T
A
C
T
G
T
G
A
C
A
A
G
G
A
G
C
T
C
A
T
T
A
C
A
C
A
C
T
G
G
G
A
C
A
C
A
A
A
G
T
T
T
C
C
T
A
T
11000 |
var(10955):[C:0.17]
T
T
G
T
C
C
A
G
T
C
C
T
G
A
C
T
G
T
A
A
G
A
A
A
G
T
T
C
T
C
T
T
C
C
T
T
A
T
A
T
A
G
A
A
C
C
A
A
A
A
11050
T
T
C
A
T
C
T
C
TG ACCGTTTAGT GCAAGCCCTA CTTATTGGCC ATTAAAAAAA
11100
GTGCATATGA TGAGC
A
G
T
G
G
T
G
A
A
G
A
C
G
A
T
G
G
G
T
C
C
T
G
A
A
T
T
A
A
A
G
T
A
C
C
11150 |
REPEAT
T
G
G
G
T
T
A
T
G
T
A
G
T
T
C
A
G
C
T
C
T
G
A
A
A
T
G
G
A
T
T
G
G
C
T
G
T
G
T
G
A
C
C
C
T
G
G
G
C
T
11200
G
G
T
C
A
T
T
T
C
A
C
C
T
G
T
C
T
G
T
G
C
C
T
C
A
G
T
T
T
A
C
T
C
A
T
T
C
A
T
A
A
A
A
T
G
G
A
T
A
A
11250 |
var(11202):[:0.17]
C
A
T
C
A
T
G
A
C
A
C
T
C
C
A
T
A
G
A
G
T
T
G
A
T
A
T
T
T
G
G
A
G
C
A
A
T
T
A
A
T
G
A
A
T
A
C
A
T
G
11300
T
G
A
C
C
T
G
G
T
T
A
C
A
C
A
T
A
G
T
G
A
G
T
G
T
T
A
A
A
T
G
A
A
CTCGAGG CATTGTGGGA
11350
GTTACTGTTG TATACAATTG TTACACCCCT TCCTTATGAC AGTCCTTCCA
11400
AAATTTTTTA AATTGCATGT TCCCCAGATC TTGTCTCTTC TTTCACATGC
11450
ATTTCCAACT GTGTGCATGA CTTCTCATGA ATTGTACTAT TAACTCTCTC
11500
ATCATCTGGG CAGGACCCTG TGAACTCAAG CTTGTATTAG TGTCTATCTT
11550
AGAGCCATAT TTTGAATGTG AGGATCCATT TGTTGTGATC AGCAGAGTGG
11600
GACAGAGCTA GCTTGGCCTT TGTGCTAGAT AATATGCCTG CATGAATATA
11650
GATCGATACC ATGTCTGTTT CATAGTAGCA TATCACACCA GTCACTTGTG
11700
GAATCTATTC TTACTATAAT ACTTAA
A
GAG TTTTCTCAAT ATGCTGC
T
T
C
11750 |
var(11727):[:0.09]
|
REPEAT
T
T
G
G
C
C
C
A
G
T
G
T
T
G
T
T
T
C
G
T
A
T
A
A
A
T
G
A
C
A
G
T
G
A
T
C
T
G
G
A
T
G
A
G
G
A
G
A
T
A
11800
G
G
A
A
G
T
G
T
G
C
T
T
A
T
AATGCC TGCCCTTACA GGTGATTTTG GTAAGTTGAA
11850
GAACTGGCAG AGATAAGCAG CATAGAGTTC CCTAAGATGG TTTGATAGC
G
11900 |
REPEAT
|
var(11900):[A:0.05]
C
T
G
G
G
T
G
T
G
G
T
G
G
C
T
C
A
T
G
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
T
G
A
G
G
11950
C
C
A
G
A
G
G
A
T
C
A
C
T
T
G
A
G
C
C
C
G
A
G
T
T
T
G
G
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
12000
A
G
A
C
C
C
C
C
A
T
C
T
C
C
A
C
A
A
A
A
A
A
A
T
A
A
A
A
A
A
G
T
C
A
G
C
C
A
G
G
T
G
A
G
G
T
G
G
C
A
12050 |
NOT SCANNED
C
A
C
A
C
G
T
G
T
A
G
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
C
G
A
G
A
T
G
G
G
A
G
G
A
T
C
A
C
T
T
G
12100
A
G
T
C
T
G
G
G
A
G
G
T
T
G
A
A
G
C
T
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
G
G
G
G
C
C
A
C
T
G
C
A
C
T
C
C
12150
A
G
C
C
T
A
G
G
T
G
A
C
A
G
A
G
C
A
A
G
A
C
C
C
T
G
T
C
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
TTTATA
12200
CGGGCCCCTA GAAAGAAGAA AAATACCCAT CTAAAATTTA AATACAGG
G
T
12250 |
REPEAT
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
12300
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
G
T
G
G
C
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
C
T
T
G
G
G
A
12350
G
G
C
T
G
A
G
A
C
A
G
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
T
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
G
A
T
G
A
G
12400 |
var(12363):[C:0.10]
C
T
G
A
G
A
T
C
G
C
C
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
G
A
A
C
G
A
A
A
C
T
C
C
A
12450
T
C
A
C
A
A
T
A
A
A
A
T
A
A
A
A
T
A
A
A
A
TTAAATTAA ATTAA
A
TACA GGGGATCTGG
12500 |
var(12468):[T:0.02]
|
var(12486):[T:0.01]
GGCTAGGGGA AGAACCAGGC ATTTGCAGAA CTGCAAACTG GTCAGGACTT
12550
GCAC
G
TTACA CTAGAAATTC AGGGCCCATC ATGAAAAGAG CCTAGGAGAA
12600 |
var(12555):[A:0.34]
CTCATAGGCA TTGAAAGCTG GTCCCCAGAA TCTGGGAAGT TATAAAATAG
12650
GGGTGAATGG
G
G
G
T
G
A
A
G
G
A
A
C
T
T
G
C
A
T
T
A
T
T
T
G
A
T
C
T
A
C
A
G
A
G
G
A
G
A
A
G
12700 |
REPEAT
G
C
T
A
A
G
G
TAT GCTCAGAAAA TATGTAAACA CATAAATAAC TGAGTTATTT
12750
TTATAACCCG GCATTTAATA ACTGGGTTTT CATCTTAGCT CAGCTTTAAT
12800
TATGGCCTTC TGGAATATAC AAGGCTCTTA CCCAGACTAG GAGGTATG
C
T
12850 |
REPEAT
T
T
G
G
A
G
T
C
A
G
A
C
A
G
A
T
C
T
G
A
G
T
T
C
A
A
A
T
C
C
T
A
A
T
G
C
C
A
G
C
A
C
T
A
A
C
T
A
G
C
12900
A
T
G
T
T
C
C
T
T
A
A
C
C
T
C
T
T
G
A
A
G
T
C
A
G
T
T
T
C
C
T
C
A
T
C
T
G
T
G
A
A
A
T
G
G
A
G
A
T
A
12950 |
var(12902):[C:0.02]
A
A
A
A
T
A
G
T
A
G
T
T
A
A
G
C
T
C
A
G
A
C
T
A
T
T
G
T
A
G
A
C
T
T
C
G
A
T
G
A
G
A
T
A
A
T
G
T
A
T
13000
T
G
A
A
G
T
A
C
T
G
A
G
C
A
C
A
T
T
G
C
T
G
T
A
C
T
T
A
G
A
A
C
T
C
A
A
C
A
A
A
T
G
GCTGAAAT
13050
TATCTTTTGT CCTCTTGGAC AGAATAAGAG GAC
A
CTGGTT CGAGGTGGGT
13100 |
var(13084):[G:0.03]
TATA
G
G
C
C
A
G
G
C
A
C
A
G
G
T
G
G
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
T
T
T
T
G
G
G
A
G
13150 |
REPEAT
G
C
C
G
A
G
G
C
G
G
G
T
G
G
A
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
C
A
G
A
C
C
A
G
C
C
T
G
G
C
C
13200
A
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
T
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
T
G
T
13250
G
G
T
A
G
C
A
C
G
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
C
A
A
G
A
A
13300
T
G
G
C
T
T
G
A
G
C
C
T
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
T
G
C
C
A
C
T
C
13350
C
A
C
T
C
C
A
G
C
C
A
C
T
G
C
A
C
T
C
A
A
G
C
C
T
G
G
G
T
G
A
C
A
G
G
G
C
G
A
G
A
C
T
C
C
G
T
C
T
C
13400
C
A
A
A
T
A
A
A
A
A
C
A
A
A
A
A
C
A
A
A
C
A
A
A
A
A
A
A
CC TAAACTGGGT TATAACAAAT
13450
TTAGGTTGGT AAAACTTTCA TGAAGATGAG TTAAACACAG AGATGGTTCA
13500
CTGGAGGGTG AGGTGAAATC AGGCCTGTAA ATATTTAATG ACAAGAAACG
13550
GAAAATCAGC AAGTGCTCTT GAGTGTTGTG AGTAGGGTTC TGTCTAAATG
13600
TGAAAAGGGA CTAAATCTAT CATGTTCTCA GCATGCTGCA AAAGAGGCCT
13650
CCAGCAACCA GAGGCGACAT ACAGGT
T
ATC TTTCAAAC
A
A
G
G
C
A
A
G
A
C
C
G
13700 |
var(13677):[C:0.03]
|
REPEAT
C
C
A
T
C
T
G
C
A
C
T
T
A
T
T
C
A
T
G
T
T
A
G
C
T
C
T
A
G
G
G
C
C
C
T
G
C
A
C
A
G
G
G
T
C
T
C
A
C
A
13750
C
A
G
C
A
G
A
A
A
C
A
C
T
C
A
G
T
A
A
A
T
A
G
T
T
T
C
T
A
A
A
T
T
T
A
A
T
G
A
C TTCATATT
T
C
13800 |
var(13799):[G:0.01]
TAAGCATTAG AGTTAGTCTC TGCTTTATTC CCTGACTAAT AGTGAACACA
13850
TCTGTTTGTG GGATGTGTAG CTAAAATTAG
C
AGTGGTGGA GCTGACTGAA
13900 |
var(13881):[T:0.01]
TGGCCCTTAC AGTTACTAGA ACTATTTCTG TAGCCGTGTC CCTA
G
TAAGA
13950 |
var(13945):[A:0.16]
AGTCCCATGC ATCTGCAGAT GAATCAAGAG TTCATTCTCT TCCCATGTGG
14000
TAGATCTGGG GATTTGTCAC ATTCCCTTCA G
C
G
GCTGCTG CTGCCTCTTT
14050 |
var(14032):[T:0.02]
|
var(14033):[A:0.44]
TAAGTTTTAA A
C
AAAA
T
A
G
A
A
A
T
G
G
A
G
T
C
T
C
A
C
T
G
T
G
T
C
A
C
C
C
A
G
A
C
T
G
G
14100 |
var(14062):[:0.26]
|
REPEAT
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
T
A
G
T
C
T
T
C
C
C
A
C
C
T
T
A
G
C
C
T
C
C
C
A
A
A
G
T
G
14150 |
var(14138):[A:0.13]
C
T
G
G
G
A
T
T
A
T
A
G
G
C
G
T
G
A
G
C
C
A
C
C
G
C
A
C
C
T AGTTGTTCAG CTTCTTCTGT
14200
TACTTGAAAT AAGTTAAGGT CCTTTAATAG TTTCACAATT CCTG
A
G
C
C
A
G
14250 |
REPEAT
G
C
G
C
C
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
A
A
C
T
A
T
A
G
G
A
G
G
C
T
G
G
G
G
C
A
G
G
14300 |
var(14265):[T:0.05]
|
var(14270):[:0.01]
|
var(14297):[T:0.01]
T
G
G
C
T
C
A
C
T
T
G
A
G
G
T
C
A
G
G
A
G
T
T
T
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
G
T
A
A
A
14350
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
T
A
G
C
C
A
G
G
C
G
T
G
G
T
G
G
T
G
C
G
T
A
14400
C
C
T
A
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
A
G
G
C
T
G
A
G
A
T
G
A
G
A
G
A
A
T
C
C
C
T
T
G
A
A
C
C
14450
C
A
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
T
T
G
A
G
C
C
A
A
G
A
T
C
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
14500 |
var(14463):[T:0.02]
T
A
G
G
C
A
A
C
A
G
A
G
C
A
A
G
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
A
G
A
A
G
14550 |
var(14541):[G:0.02]
A
A
G
A
A
GTTTC ATAACTCCTG AATTCAGAAT CAGAAGCCAT AATATTACTG
14600
ATTACATTGA GGAGAAACTG GTACTGAGGC GATTTATCCC TTGAAAGAAC
14650
ACTCTGGACA TGTTACAGGC A
T
GCGTTCCA GATTGCATTT CCCATGAACT
14700 |
var(14672):[C:0.24]
ACCATATTAT TTTGTTTTAA TTTTAATTAT TTTCTCTTCT AATTTTTTCC
14750
T
C
T
T
T
A
A
A
A
A
T
T
G
A
A
A
T
A
T
A
T
T
T
T
A
T
A
T
A
T
A
G
T
C
A
A
A
T
A
C
A
C
A
G
A
T
G
T
T
A
14800 |
REPEAT
A
A
T
G
T
C
C
A
A
T
T
T
T
A
C
G
A
G
T
T
T
T
G
A
C
A
A
A
T
G
C
A
T
G
T
G
C
C
C
T
T
G
A
A
A
C
C
C
A
C
14850
A
T
T
G
C
T
G
T
C
A
G
A
A
T
A
GACCT CTTAATTCTT GTTTTATTAT TTTAAAATTT
14900
ATATTGTGT
T
T
T
T
A
T
T
T
T
T
T
T
C
T
G
T
A
G
A
A
A
T
G
A
A
G
T
C
T
C
G
C
T
A
T
G
T
T
G
C
C
14950 |
REPEAT
|
var(14931):[A:0.03]
T
A
G
G
C
T
G
G
T
C
T
T
G
A
A
C
T
C
C
T
G
G
C
C
T
C
A
A
G
A
T
A
T
C
C
T
C
C
T
G
C
C
T
C
A
G
T
C
T
C
15000 |
var(14989):[C:0.02]
C
C
A
G
T
A
T
G
C
T
A
G
T
A
T
T
A
C
A
G
G
C
G
T
T
A
T
C
C
A
C
T
G
C
T
C
C
C
A
G
C
TGTCTCTCA
15050
ATTTTTGAAT CAACTAGTTT CAAAACTTCT AGTTCTAAGA GTTGGCTTGC
15100
TCATGAACCC TGG
G
A
G
G
T
C
A
G
G
G
A
T
C
A
G
C
C
A
T
C
T
C
G
T
T
T
G
T
G
G
C
T
G
C
C
T
C
15150 |
REPEAT
C
G
C
A
G
C
A
C
C
A
A
A
C
A
C
A
G
T
G
C
C
T
A
G
C
A
C
C
T
A
T
T
T
T
G
C
A
A
G
C
A
A
T
A
G
A
T
A
AC
15200
AATGCATGCG ATAGATATTA AGTGAGCAAG TAGATGCAAA GTAATTCTGC
15250
CCTCACTTAA TTTACATAGC ATTGTCAACT CATAGCTCTG ACATACGCTG
15300
TGGTTTTCCA AAATCTTCCA TGATCATCAG TTAATTTTGA TGTTCTTTCT
15350
CTGTATGCGT CATGTGTGAG TAATAGCTAT GTGGACTAAC AGGTTCGCAC
15400
ATTGTAATAG AAACAAGTCA ACCTGCAGGC ACGGTTTATA TTTACGCAAT
15450
CTTTATTTTC AGCCTTTTGG TTGCCGTAGT CATGCTTTTT TAGATAAATA
15500
ATTTTTAAAG TTCTATTTGG CAATTAATTA CTCATGAGTA GGTGGAAATA
15550
TGACCAGGTC TGACCAGGCA CCTGCATCTG TTACATGCTC TCTCTGACTT
15600
CCTCAAGCTC TAAATATAGT CTCTGTACAG TTGGTAGGAT TAAGCACAGT
15650
GACATTAATT TCATAACTGT GTATCAGAAT GCTGCTAAAA TAACCAGCTT
15700
CCTAATAGGT GGGTCTTAGA AAAAGCCAGC TTGA
C
TGAAG TTCTCACCGT
15750 |
var(15735):[T:0.01]
CTCACATTTT TATTTTGTTG TAG
G
T
C
A
T
C
A
C
T
C
C
C
C
A
A
A
A
T
G
G
A
C
G
T
T
A
C
15800 | Exon 4
V I T P Q N G R Y 121
C
A
A
A
T
A
G
A
T
T
C
C
G
A
T
G
T
T
C
T
C
C
T
G
A
T
C
C
C
C
T
G
G
A
A
G
C
T
G
A
C
T
T
A
C
A
G
G
A
A
15850
Q I D S D V L L I P W K L T Y R N 138
T
A
T
T
G
G
T
T
C
T
G
A
T
T
T
T
A
T
T
C
C
T
C
G
G
G
G
C
G
C
C
T
T
T
G
G
A
A
A
G
G
T
A
T
A
C
T
T
G
G
15900
I G S D F I P R G A F G K V Y L 154
C
A
C
A
A
G
A
T
A
T
A
A
A
G
A
C
G
A
A
G
A
A
A
A
G
A
A
T
G
G
C
G
T
G
T
A
A
A
C
T
G
GTATGTGTT
15950
A Q D I K T K K R M A C K L 168
TTCTACCTAG ATAACCCACA CTGTGTGTTT GGCATTCTGG CTTTTGTTTT
16000
TTTGTCCATT TGCATTAACC AAAGGTTTTT ATCGTTTGAT TGGGTCTTAT
16050
CTGAGGGTGC ACTGCCTCAA AGCATTTGTT TTTCTGAATT TATTGGCTAC
16100
TTGGGGCCAT TCAGCCCTAA AATCTCTGTT TAGGTGCATA GTTGATTTTA
16150
ATCTAGATGA TTAAAAGGAT AAGTGCTGGT TTTTAAAGCA CTGATTTGGA
16200
TAAATAACAT CATCACTCTT GGAGAGAAGT AGAGAAGAGC CATCCTGCAA
16250
AGTAGGAGCA ATTCTCTGTG CTTCTCCTTT CATTCCGCCC ACTGCAGAGG
16300
GGGCCAGGCA GAGGCAGAAA CTGGGAAGGA GGTAGCCTTT TCAGGAAGGC
16350
AGATTTAAAG GGCTGAATTT AAATACATCA ATGATTGAAA AGACCCTATC
16400
CCAAA
T
T
T
T
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
A
T
T
16450 |
REPEAT
T
G
A
A
A
C
A
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
T
C
C
A
G
G
C
T
G
G
A
G
T
G
C
A
G
T
G
T
C
G
G
G
G
T
C
16500
T
C
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
T
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
A
C
G
A
T
T
C
T
C
C
T
G
C
A
T
C
16550
A
G
C
C
T
C
C
C
A
A
G
T
A
A
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
C
T
G
C
C
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
16600
T
T
T
T
T
T
T
G
T
A
T
T
T
T
C
A
G
T
A
G
A
G
A
C
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
16650 |
var(16601):[:0.99]
T
C
T
C
G
A
A
C
T
C
C
T
G
A
C
T
A
C
A
A
G
T
G
A
T
C
C
A
C
C
T
G
C
C
T
A
G
C
C
T
T
C
C
A
A
A
G
T
G
C
16700
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
A
A
G
C
C
A
C
C
G
C
G
C
C
C
T
G
C
C
CTTATCC CTTCTTATTA
16750
AACAATAACT GCCAA
G
G
T
G
C
C
A
C
T
A
C
T
T
T
G
G
A
A
A
A
C
T
G
T
A
T
C
T
A
C
A
T
A
A
G
16800 |
REPEAT
G
T
G
A
G
C
A
T
T
C
A
C
A
C
C
C
C
C
T
A
T
G
A
C
T
C
A
A
C
A
A
T
T
C
C
T
C
T
C
C
T
G
T
A
G
G
T
G
C
A
16850
C
T
C
A
C
T
C
C
A
C
A
G
A
G
A
C
C
T
G
T
C
C
A
C
G
T
G
G
C
C
A
C
C
A
A
A
A
A
C
T
A
A
A
A
G
C
T
A
T
G
16900
T
G
G
T
A
G
C
A
T
G
T
T
C
A
T
A
T
C
T
G
C
A
C
T
A
T
T
T
G
T
A
A
G
G
G
T
C
C
C
A
A
A
C
T
A
G
A
A
A
C
16950 |
var(16903):[C:0.13]
T
T
C
C
A
A
A
A
T
G
C
T
G
A
A
A
T
G
G
G
A
T
A
T
A
T
T
T
A
C
T
T
A
G
T
G
A
A
A
T
T
C
T
G
G
A
T
A
G
T
17000
A
A
A
A
A
G
A
A
T
A
A
A
T
G
A
T
T
T
A
C
A
A
C
T
A
T
A
A
T
A
A
T
G
T
G
G
A
T
T
A
A
T
C
T
C
A
T
A
A
C
17050
C
A
T
T
A
T
G
T
T
G
A
G
C
C
C
A
A
A
T
A
G
C
C
A
G
A
C
A
C
G
A
A
A
T
G
A
G
A
T
C
T
A
C
T
G
T
A
T
G
A
17100 |
var(17073):[A:0.01]
G
A
T
T
C
T
A
T
T
T
A
T
A
T
A
A
A
G
G
A
C
C
A
A
A
A
C
A
G
G
C
A
A
A
A
C
A
A
A
A
T
C
T
G
T
G
C
T
A
C
17150 |
var(17105):[G:0.01]
T
G
G
A
T
G
T
C
A
G
G
A
T
G
G
T
G
G
G
T
A
C
C
C
T
T
G
G
A
G
A
G
T
A
G
C
G
A
C
T
G
G
A
A
G
G
G
G
C
C
17200
A
A
G
A
G
G
G
G
G
G
C
T
T
C
T
T
G
A
A
T
G
C
T
A
G
T
A
GAC ATCTGTGTG
T
T
T
T
T
T
C
T
G
G
T
17250 |
REPEAT
T
T
G
T
T
T
T
T
C
T
T
T
T
T
G
A
G
A
C
G
G
A
G
T
C
T
A
G
C
T
C
T
G
T
C
G
C
C
C
A
G
G
C
T
G
G
A
G
T
G
17300
T
A
G
T
G
G
C
G
C
A
A
T
C
T
T
G
G
C
T
C
A
C
C
T
C
A
A
C
C
T
C
T
G
T
C
T
C
C
C
G
G
G
T
T
C
A
A
G
C
G
17350
A
T
T
C
T
T
C
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
C
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
C
T
C
A
C
C
C
C
17400
C
A
C
G
C
C
T
G
G
C
CTGACATGGT TTTTCATTTT GATTTAGATG GGGGTTACAT
17450
TTGTACGTTC AGTTGATAAT TCATTGAGTT GGA
C
CCATCA TTTTTACACT
17500 |
var(17484):[T:0.01]
TTTTTGTATG TCTGTTTTAC TTTAATTAAA TTTTCAAAAG TATAACAAAA
17550
TAAAATACAC TCACTTTTGA TTTAACAAAA AATAAAATAA ATAATTGCCA
17600
AATATTATGT CTTGGTTTCT CTTATTGTAA TAAGA
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
17650 |
REPEAT
C
A
G
G
C
A
T
G
C
A
C
A
A
C
C
A
A
T
G
C
C
T
G
G
C
A
A
A
T
T
T
T
T
G
T
A
T
T
T
T
T
T
G
T
A
G
T
A
A
C
17700 |
var(17664):[T:0.04]
G
G
G
G
T
T
T
C
G
A
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
A
G
C
C
T
C
A
A
G
T
G
17750
A
T
C
T
G
C
C
T
G
T
G
T
T
G
G
C
C
T
C
C
C
A
A
A
G
T
G
T
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
A
G
C
C
A
C
17800
C
G
C
C
C
A
G
C
C
T CAGTGCTTAT TTTAAATACA TTGCTATAAT AGAGTATGAA
17850
CTGTGGCAAC AAACACTTCA TATTATCTCA CAACCAACTG AAATATTGAA
17900
AATACAACCT AAACTCAAGG TACCATAGAT ACTGTTGTCT AATAGGTGGG
17950
AAATTATCTC TTTTTTGATT CATTCATAAT TTTAAAACTT TGGATAGATT
18000
TCTGACTTCT AAATGAAAAG AGTAACTCAT TATTTTGTTT TTTATTTTCT
18050
TGTTCTGAAT TTTATACTTA AAGCTGACTA ACATAGTTAA AGGCAGATCT
18100
GAGGTGAACA TTATTGTAAC TGGGCAGTCC
A
TTTTCACAC AGGGCAGAGT
18150 |
var(18131):[G:0.48]
ATTCTTGAGG GCATTTATTT GCCTTTTGTT TTTTGCATTG ACCTATATTT
18200
TATATTTTTA AGATGACTTT GGGGTTATTT AGAATCTCGC TTGTATTTTT
18250
GTGTTCTAG
A
T
C
C
C
A
G
T
A
G
A
T
C
A
A
T
T
T
A
A
G
C
C
A
T
C
T
G
A
T
G
T
G
G
A
A
A
T
C
C
A
18300 | Exon 5
I P V D Q F K P S D V E I Q 182
G
G
C
T
T
G
C
T
T
C
C
G
G
C
A
C
G
A
G
A
A
C
A
T
C
G
C
A
G
A
G
C
T
G
T
A
T
G
G
C
G
C
A
G
T
C
C
T
G
T
18350
A C F R H E N I A E L Y G A V L 198
G
G
G
G
T
G
A
A
A
C
T
G
T
C
C
A
T
C
T
C
T
T
T
A
T
G
G
A
A
G
C
A
G
G
C
G
A
G
G
G
A
G
G
G
T
C
T
G
T
T
18400
W G E T V H L F M E A G E G G S V 215
C
T
G
G
A
G
A
A
A
C
T
G
G
A
G
A
G
C
T
G
T
G
G
A
C
C
A
A
T
G
A
G
A
G
A
A
T
T
T
G
A
A
A
T
T
A
T
T
T
G
18450
L E K L E S C G P M R E F E I I W 232
G
G
T
G
A
C
A
A
A
G
C
A
T
G
T
T
C
T
C
A
A
G
G
G
A
C
T
T
G
A
T
T
T
T
C
T
A
C
A
C
T
C
A
A
A
G
A
A
A
G
18500
V T K H V L K G L D F L H S K K 248
T
G
A
T
C
C
A
T
C
A
T
G
A
T
A
T
T
A
A
A
C
GTAAGTATC TTTGGACATA TACCTTTTTG
18550
V I H H D I K 255
GCTCAAAGAG ACTAGTTATT CAGGAGACAA ACAAGCTCCT TCCTGTAATC
18600
TGAAGACCCT CCATGGAGGG TGGAAAGCTC CCTCAGAGCA CCGTCCGTCT
18650
TCCTTCTCCA GAGACATATC TTAGAATCAT GCGGGGTTAC TAGAGCTTTC
18700
AAAGTCATAA GGAAAGATTA CTTTCAACAG TTGTTGAAAG GTTATAGCTA
18750
CATACCTATT AGGTACTGCT CTGTTAAAAA GGCTTTTAAA ATTGC
A
ATTT
18800 |
var(18796):[G:0.04]
A
G
G
C
T
G
G
G
C
A
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
G
G
G
A
T
G
C
T
G
18850 |
REPEAT
|
var(18819):[:0.04]
T
G
G
C
A
A
G
T
T
G
A
T
C
A
C
C
T
G
A
A
G
T
C
A
G
G
A
A
T
T
G
G
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
T
G
18900 |
var(18853):[A:0.43]
T
G
G
T
G
A
A
A
C
C
C
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
A
G
C
T
18950 |
var(18928):[G:0.01]
|
NOT SCANNED
G
G
G
C
A
T
G
G
T
G
G
T
G
G
G
T
G
C
T
G
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
T
G
G
G
A
G
G
C
T
G
A
G
G
C
A
19000
G
G
G
G
A
A
T
C
A
T
T
T
G
A
A
T
C
T
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
T
G
A
G
C
T
G
A
G
A
T
G
G
C
19050
G
C
C
A
T
T
G
C
T
C
T
C
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
A
G
A
G
C
A
A
A
A
C
T
C
C
G
T
C
T
C
A
A
A
A
A
19100
A
A
A
A
A
A
A
A
A
A
A
A
GCAATTTA CTTAAAAACA TACAAACACA GAGACAAGTA
19150
TTTTTGAGAA ACAAATACCT TTTTCATTTT TTATACCAAT GTAACAATAA
19200
TCCATTAAAC ACACCTTTAC TAACTGTTTT CTAGGAGTCT GATATGATGA
19250
GGAAATAGGT AAACCTTTAA TAGCCAGTAC TAAATTAGAG TGGCACAACT
19300
TTCACTGGGA AAAAAGATG
G
GTATTT
T
A
C
T
T
T
T
C
T
G
T
T
T
T
A
G
A
A
A
A
G
T
G
G
19350 |
var(19320):[A:0.05]
|
NOT SCANNED
C
T
T
G
A
C
A
A
C
A
G
T
A
T
G
C
T
T
A
T
G
T
C
T
T
A
G
A
G
T
T
T
G
A
A
A
T
T
C
A
A
G
T
T
C
T
T
G
A
A
19400
C
A
T
T
A
T
T
A
A
T
G
G
C
T
A
C
A
A
T
C
A
T
T
C
A
T
A
C
C
C
A
C
A
T
T
G
G
C
T
G
T
A
T
T
C
T
T
G
A
T
19450
G
G
A
T
C
C
A
A
A
G
T
G
A
T
T
T
T
C
A
C
C
T
C
A
A
CTCTG AATTTCATTC TCCTCTTTTG
19500
AATATAATAC AACCATCTCA CTAGAGGAAG CATTTCAGTC TTTTCTGATT
19550
GGAGATTCAT TATTGTTTTA GATAATGTTT TCATTTGACT TATGGGTATA
19600
TAAAAAATTT TATCTTAAAA ATATTTCCTC TCATTTTAG
C
T
A
G
C
A
A
C
A
T
T
19650 | Exon 6
P S N I 259
G
T
T
T
T
C
A
T
G
T
C
C
A
C
A
A
A
A
G
C
T
G
T
T
T
T
G
G
T
G
G
A
T
T
T
T
G
G
C
C
T
A
A
G
T
G
T
T
C
A
19700
V F M S T K A V L V D F G L S V Q 276
A
A
T
G
A
C
C
G
A
A
G
A
T
G
T
C
T
A
T
T
T
T
C
C
T
A
A
G
G
A
C
C
T
C
C
G
A
G
G
A
A
C
A
G
A
G
GTAA
19750
M T E D V Y F P K D L R G T E 291
TTATGTTCAC ATGAAAAGGG TTACTATTTT ATTAAGAATA AAAAGGAAAA
19800
AATGTTCTAG AATTATTGTG GGAACGAAGG ACAAAGAAGG GGAAGAAACC
19850
CACTGCATTA AATCATTATT TTCCTTGGAA C
A
C
A
T
T
T
A
A
T
G
A
G
C
A
C
T
T
G
C
19900 |
REPEAT
T
C
T
G
T
G
T
C
A
A
G
T
A
C
T
A
A
G
T
T
T
A
G
C
A
C
T
TGA TTTTTTATTG TATTTTTTGC
19950
TATGTTATTT ATAATACATA ATAGTATTTG TAATATAATA TACATGTTGA
20000
TATATATAAT ATAGAACATT TGTACACAAT GTCATGTCAA AATAGATCAC
20050
ATT
G
G
C
C
A
G
G
T
G
T
G
G
T
G
G
C
T
A
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
T
G
C
T
T
T
G
G
G
A
G
G
C
20100 |
REPEAT
T
G
G
G
G
T
G
G
G
A
G
G
A
T
C
A
A
T
T
G
A
G
C
C
C
A
G
G
A
C
T
T
T
G
A
G
A
C
A
A
G
C
T
T
A
G
G
C
A
T
20150
C
A
T
A
G
C
A
A
G
A
C
C
C
C
A
T
C
T
C
T
A
T
A
A
A
A
A
A
A
A
A
A
C
T
G
G
T
T
T
A
G
G
C
T
G
G
G
C
A
C
20200 |
var(20182):[:0.97]
|
REPEAT
G
G
T
G
G
C
T
C
A
A
A
C
C
T
G
T
C
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
T
G
A
G
A
T
G
G
G
C
G
G
A
20250
T
C
A
C
C
T
G
A
G
G
T
C
G
G
G
A
G
T
T
T
G
A
G
A
C
A
A
G
C
C
T
G
A
C
C
A
A
C
A
T
G
G
A
G
A
A
A
C
C
C
20300
C
G
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
T
T
A
A
C
C
A
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
A
C
C
T
G
T
20350
A
A
T
C
C
C
A
G
C
T
A
C
T
C
G
G
G
A
G
G
C
T
G
A
G
G
G
A
G
G
A
G
A
A
T
C
A
T
C
T
G
A
A
C
T
C
A
G
G
A
20400
G
G
C
A
G
A
G
G
T
T
G
A
G
G
T
G
A
G
C
C
G
A
G
A
T
C
G
T
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
20450
A
A
C
A
A
G
A
G
T
G
A
A
A
C
T
C
C
A
T
C
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
A
T
T
A
G
C
T
C
A
G
T
G
T
G
G
20500 |
REPEAT
T
G
G
T
A
C
A
C
G
C
C
T
G
T
A
G
T
C
T
C
A
G
C
T
A
G
T
T
G
G
G
A
G
G
C
T
G
A
G
G
T
A
G
G
A
G
G
A
T
T
20550 |
NOT SCANNED
G
C
T
T
G
A
G
C
C
C
A
G
G
A
G
T
T
C
A
A
G
G
C
T
G
C
A
G
T
G
A
G
C
C
A
T
G
G
G
C
A
T
T
C
C
A
G
C
C
T
20600
G
G
A
T
G
A
C
A
G
A
A
C
G
A
G
A
T
G
T
T
G
C
T
T
C
A
A
A
A
A
A
A
A
A
A
A
A
A
GC CCCCCAAAAT
20650
AGATCATATC CACAGTTCGG C
T
T
T
A
T
T
T
T
G
T
G
T
G
T
T
T
T
T
G
T
T
T
T
T
G
T
T
T
T
20700 |
REPEAT
T
G
A
G
A
C
A
G
A
G
T
C
T
T
G
C
T
C
C
A
T
C
G
C
C
C
A
G
G
C
T
G
T
A
G
G
A
C
A
G
T
G
G
C
G
C
A
T
G
A
20750
T
C
T
C
A
G
C
T
C
A
C
T
G
T
A
A
T
C
T
C
C
A
C
C
T
C
C
T
G
G
G
T
T
C
A
A
G
C
G
C
T
T
C
T
T
A
G
T
C
T
20800
C
C
T
G
A
G
T
A
G
T
T
G
A
G
A
T
T
A
C
A
G
G
C
A
T
G
T
G
C
C
A
C
C
A
C
A
T
C
C
A
G
C
T
A
A
T
T
T
T
T
20850
T
T
T
T
T
T
T
T
T
C
A
G
T
A
G
A
G
A
T
G
C
A
G
G
T
T
T
C
A
C
T
A
T
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
A
20900
T
G
A
A
C
T
G
T
T
G
G
C
C
T
C
A
A
G
T
G
A
T
C
C
T
C
C
C
A
C
C
T
C
A
G
C
C
T
C
C
C
A
A
A
G
T
G
C
T
G
20950
G
G
A
C
T
A
C
A
G
G
T
T
T
G
A
G
C
C
C
C
C
G
T
G
T
C
T
G
G
C
C
CACAGTTCA GCTTTAATAA
21000 |
var(20960):[C:0.04]
TAATTATAGA ATTAGAGTTA ACTTTATAAT AAGTTT
A
G
C
A
C
T
T
A
A
A
A
A
G
C
21050 |
REPEAT
A
G
T
A
T
G
T
T
A
T
T
T
A
A
T
C
C
T
T
A
C
A
A
C
A
A
C
C
C
A
G
T
T
G
T
T
G
C
T
A
T
T
G
T
T
A
T
T
C
T
21100
T
A
T
T
T
T
A
C
A
A
T
C
A
A
G
G
A
A
A
T
A
A
G
T
T
T
G
C
A
G
A
G
A
T
T
A
A
A
A
T
A
A
A
G
T
G
T
C
C
A
21150
G
A
G
T
C
A
C
T
C
A
G
T
G
A
C
A
G
A
C
C
C
T
G
G
A
C
T
T
G
A
A
C
C
C
A
G
TTCT TTCTAAGTCT
21200
AACCCTAAGG TCTAACTGCT ACATAACTTT AAAAAATTAT AATATTACAT
21250
ACATTATTAA AATATATTAG TGATATAACT AATATCACTG AGTTTTGGCT
21300
CAATGACAGT CTTAACTATG GTCATTAATA TTTATGAGGA CTCTAAAGGC
21350
CTCTCTTTGA GCCTAGGAAT TCTA
T
AATAA ACCTCAAGTA GTGAGCATAA
21400 |
var(21375):[C:0.04]
ATGTATCTTA TTTAAAGATG TAAAACAGCA CTCATGTTTA ACTCATCTGT
21450
GAAGCAAAAA A
T
GACCCAGA AAAGCCTTTC TTTCCTGACT CTAAATGAGA
21500 |
var(21462):[C:0.46]
TTCTGAAAAA TGCGTTCGCG GGCTTCCAAG TAATGTATTT AAC
A
TTCACA
21550 |
var(21544):[T:0.01]
TCATTAGGCT GACTGGGTGA TTCAATTAGC CAGTGTCCAC TGGGCATCTG
21600
CTATGTGGCA GGTTCTTGTG AGCACCAACG AGGAAGCATG ACACAAGGCA
21650
GTGAGGAGCA AG
C
C
T
T
A
G
T
G
G
T
A
C
T
C
C
A
G
C
G
A
T
C
C
T
C
A
C
T
C
T
T
T
G
G
T
G
G
G
21700 |
var(21663):[:0.01]
A
G
G
A
C
T
T
A
C
T
T
T
A
A
A
T
T
A
C
C
T
G
A
A
T
T
A
T
T
A
A
A
A
G
A
G
C
A
A
C
C
G
T
T
T
A
G
GGA
21750
T
G
G
G
C
G
T
G
G
T
G
T
T
C
T
C
A
C
A
C
C
T
G
T
A
A
T
C
C
C
A
A
C
C
G
T
T
C
G
A
A
A
G
G
C
C
A
A
G
G
21800 |
REPEAT
|
var(21773):[A:0.01]
A
G
G
T
G
G
G
G
G
T
G
G
T
T
T
G
C
T
T
G
A
G
C
C
T
G
G
G
G
G
T
T
C
G
A
G
A
C
C
A
G
C
C
T
G
A
G
C
A
A
21850
T
A
G
A
G
T
C
A
G
A
C
C
T
C
A
T
C
T
C
T
T
T
T
G
A
A
A
A
A
A
A
A
A
A
A
G
A
A
A
A
AAAGAAGGAA
21900 |
var(21875):[G:0.02]
GGGAGGGAGG GAGAGAGAGA AGGAAGGAAG GAAGGAAGGA AGGAAGGAAG
21950
GAAGGAAGGA GAAAGAAAAA GGAAGGAAGG AAAGAAAAAG AAGGAAAGAA
22000
AGAAAGAAAG CATGCACAAC AGTTTAGTTC ACAGTTGATT GTGATGGGCA
22050
CAAGGTTGGA TGCAAGCAGG AAGGTAAATG GGTGTAAAAG CTGCCTCCTT
22100
GGCCCCTCAC CACTACCGGG GGAAGCTGCA CTGCCTGAGC CACTCAGCCC
22150
CATGCCCTTC TCTTTGCTGG AAGTGCCCAT AGGAAATAGA GAGAGGGTCT
22200
TTGGCTGCAC CTCTATGTCA GGATTACCAG GTCAGTCTTG GTGTTCAATC
22250
AGATGACAAC CCTTAGTCTA
G
TCTAGCTAG TATACGTGTT GCACTGAACT
22300 |
var(22271):[A:0.49]
GGATTGCAGC CACAAAAAAA TTGTCTTCCT TTCAAACCAG ATTCTT
C
C
A
G
22350 |
REPEAT
C
C
T
G
G
G
C
A
A
C
A
T
A
G
T
G
A
G
A
C
C
C
C
A
T
C
G
C
T
A
C
A
A
A
A
A
G
T
A
A
A
C
A
A
A
C
A
A
A
C
22400 |
var(22377):[A:0.05]
A
A
A
C
A
A
A
A
A
C
T
T
T
A
C
T
T
T
T
T
G
T
A
A
A
A
A
T
G
G
C
A
T
G
G
T
G
G
T
G
C
A
T
G
T
C
T
G
T
A
22450 |
var(22404):[:0.44]
G
T
C
C
C
A
G
C
T
A
C
T
C
A
A
G
A
G
A
C
T
G
A
G
G
T
G
G
G
A
G
G
A
T
T
G
C
T
T
G
A
G
C
C
C
A
G
G
A
T
22500
G
A
G
G
C
T
G
C
A
G
T
G
A
G
C
T
G
T
G
A
T
T
A
T
G
C
C
A
C
T
G
C
A
C
C
C
A
T
A
G
C
C
T
G
G
A
A
A
A
T
22550
A
G
A
A
C
A
A
G
A
C
C
T
T
G
T
C
C
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
C
GCCAAGA TTCTGTAAGT
22600 |
var(22583):[T:0.02]
CCTTTCTCAA CTCTCTCAAA GCCAGCACTC TCCCGGGCAG CAGAAGAAAT
22650
CCTTGCTTTT GTGAATATTA CTGAAGTTAT TATTGAAAAT GCTCGAGCGA
22700
GGATTCTTGA CGGTTGTCTT TGAGCAGAAC AATATTCAGA AGGGAA
G
CTG
22750 |
var(22747):[A:0.46]
TA
A
TTTTTTT TTTTTTTTAA GAATGCTTAG TCCCCAGATC TTAAGAATAC
22800 |
var(22753):[C:0.10]
TTTACCAAAG TGTGAGGTCT AATAAGACTT AATGCTTACG ACATGTTTTC
22850
TTTGGAAAAT GTTTCAGCAT ATTTGGCATT AGTCAGGAGT TCAGATATGT
22900
AATATTCCAC CACCCTTTTT CCTGGAACCA GTTTGAAAAA CAAACTATTT
22950
ATGGTATTAA AGATGGAAAA TACTTTTCTC TTCCTGGCAA TGTGGTGAAG
23000
TTGAACATTT TGCAACATTG GAGAAAGAAG TGTTCTTTCT GGGGCTGTCT
23050
AGCGGAATGC ATGGATATGA GATAATAACA TATTTTACTC CTGAGTAGTA
23100
TTTGGATCAG GTTTTTTTTG GCAAATGCAA ATTGCTTTTT GTGAAGTGCA
23150
AAACTG
A
GCC TTGGTGTTTA TAAATATAAA CTCTCTTCTA ATCAGCCTGC
23200 |
var(23157):[T:0.10]
ATTTAATATC TGCCTAGTAC ACACGAGTTG AAGTTTGATA ATGAACAAAG
23250
TTGTGAAGTG ACCAGTGAAA CCTTTCAACA AGCTTGCTTT TACCCTTCCT
23300
ACTTAAAGAG CCAGGAGATC TAATTAGTCA ACTGTGCAGA CTGGCTGATG
23350
TTAGAATTTG ATCATGTGG
C
TACTGCACAG TCATAGACAA TTTCTGATTT
23400 |
var(23370):[A:0.01]
CTGCAGTATA GCTCCCAAAT GCAAACCCTG GTTACCCCTG TTTGATTGCT
23450
CTCTCTAAGC ATTGGTATTC AGAGCATTCT ATTGTAACCA TGTAATACAC
23500
ATCCAGGGTT AATCCAGCAT ATACAGAATA GACTGTTTTT GAGTTGCAAG
23550
GTACAGAGAG AGAATACATA GTGAATGCGA ATAACAAATC AGAATTACTT
23600
TTAGAACTTG GTCCTTTTTG AAAAATCCTT CTAAGTCTGC TTGGTTTTAC
23650
CTTTGTAAGT TAACATATAG TCATCACATG CACATATACG CACACACACG
23700
GTCTCTTTCC CTTTCTAATA AACATATTGA AAGGTGAAGG GTTCGATCGC
23750
TGACATCAAG GTTTTCTCTT GCTCCAGTGC CCTGCCCCGA GGGTGCAGAA
23800
CTCTCAGAGA GCCCTGTGTT GGTCCCACCA GGGCTGTTTC ATGCCTTCTA
23850
ATCAGCCAGA GTGCTCGAAC ATTATGCCCT GCTGCTCCCT GATCTAACTG
23900
GTAGTTGGTA GAGCTTGAGG AACAAGAGCT CCGAGCCAGG AAGCTCTGGG
23950
GTTTCTACCT GAGTGGCAGC ACCCAGGCCA CCAGGCTTAC AGATGTTCCA
24000
TCCCCCCAGG CTGCCTAGGC GTGCAGTCAC ATAGAACCTG CAGAGCCACC
24050
TCTGCACAAC CCCTGTGGGC TACACCAGCA GTGGGCACTC CGCCCAATCC
24100
TTGCTTTATT GGCAGGGAGG AGGGGGTACA GGAGAGAAGA TAGGCATCCT
24150
CTATGGACAG TTAATAATAC CCATTGCA
T
T
T
C
T
T
T
T
T
C
T
T
T
T
T
T
A
T
T
T
G
A
24200 |
REPEAT
T
T
G
T
G
G
T
A
A
G
A
A
C
A
C
T
T
A
G
C
A
T
G
A
A
C
T
C
T
A
C
C
C
T
C
T
C
A
A
C
A
C
A
T
T
T
T
T
A
A
24250
G
T
A
T
A
C
A
A
T
A
C
A
C
T
A
T
T
G
T
T
G
A
C
T
A
T
A
G
G
T
A
C
A
A
T
G
T
T
G
T
G
C
A
T
T
A
A
T
T
T
24300
T
T
T
A
A
G
T
T
T
G
T
GATATATTT AGTAGCAAAG TCCTTCTGGA AAGTCCTCTG
24350
GCTCTGCTGC AGGGAAAGCT TGAGAAC
G
GG AGCTCAGTTT CACCTGTTTG
24400 |
var(24378):[A:0.01]
CTGAGAGCAA AAGGAAGCTG GCCCGGAAGT GGCTTGCAGG AAGGAGTTGA
24450
GCAGGGTTAG GGTGGGGAGA CTGGGCAGTT TCTCTGGTTT TTGTAAGCTA
24500
GTTCTCTAAT TACTTACCCT GAAATGTGTT CCGGAAACAC TGACCTCCAT
24550
TCTCTTATTC ACATGGCAGA CAGTGTACAA GCTGTTTCAA GCGAAATACT
24600
GATAATCAGG ATATTAACTA CTATATGTCT GCACCAGCC
A
TGAATACAAA
24650 |
var(24640):[G:0.01]
TCACTGGTCA CCAGTGTTTG CTCTGTTCCT TTTTAAAAAA ATGTTTAATT
24700
AAATTAGGTA ACTAATTAA
T
T
T
G
T
A
A
A
G
A
T
G
G
G
G
G
G
T
C
T
C
C
A
T
C
T
T
G
T
C
C
24750 |
REPEAT
|
var(24733):[T:0.02]
A
G
A
C
T
A
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
T
T
C
C
T
G
C
C
T
C
G
G
C
C
T
T
C
24800
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
C
A
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
C
A
C
A
C
T
T
T
G
G
G
A
24850 |
REPEAT
G
G
C
C
G
A
G
G
C
A
G
G
T
G
G
A
T
C
A
C
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
24900
A
C
A
T
G
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
C
A
G
G
C
G
T
G
24950
G
T
A
G
C
A
C
A
T
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
G
T
T
G
G
G
A
G
G
C
C
G
A
A
G
C
A
G
G
A
G
A
A
T
25000
A
G
C
T
T
G
A
A
C
C
C
G
G
G
A
G
G
C
A
G
A
G
G
T
T
G
C
A
G
T
G
A
A
C
C
G
A
G
A
T
C
G
C
A
C
C
A
T
T
G
25050 |
var(25035):[T:0.02]
C
A
T
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
G
A
G
G
G
A
G
A
C
C
C
C
A
T
C
T
C
G
A
A
A
A
A
A
A
A
A
A
A
A
A
25100
G
C
C
A
A
A
G
T
G
C
T
G
A
G
A
T
T
A
T
A
G
A
C
A
T
G
A
G
C
C
A
C
C
A
T
G
C
C
C
C ACCTCTCTTT
25150 |
REPEAT
GTTTCTTTCT TAAGTTTAGA AATAAATGCT CGTTAGAGAA ACTATTTATA
25200
AAACCAGCCC TGTTTATTCA GCATGGACTC ATGAGACCAA ATATAACTTA
25250
TACAATGTTA ATATGGCTGC ATTTAATATT TAGTCACTGG GCTACATAGT
25300
AGGTAAAAAT AACAGATAGT TTGTAAAAAT GACTCTTTAG AATCACTTCT
25350
ACAATATTAC ACTTTATTTT TTAAGTTTTT CCCTTTCAA
G
AAATTTGTGT
25400 |
var(25390):[T:0.03]
TAATACCCTA TAGACTTCTA TCACCTTTTA TCATTGCAGA TATTTAGAAG
25450
GTTAGCAGTG TAATGACAAA CAGATAAAGA AGTCTGTTTG TAGTTCATTT
25500
AAATATAAAA GGAATTGGCG TTTTAGTTGA AAACTTAGCT ACACCTGATC
25550
AGTGTACTGC AGAACTTTGA TGAGTGGGAG TCCCTGATAG ATTCCTGGTT
25600
CTAGGCTCTT TGCCACCAGA TCAACCAGAA AAAGGTGG
T
G
T
T
T
T
G
T
T
T
T
G
25650 |
REPEAT
T
T
T
T
G
T
T
T
T
G
T
T
T
T
T
T
G
A
G
A
C
T
G
A
G
T
C
T
C
G
C
T
C
T
G
T
C
T
C
C
C
A
G
G
C
T
G
G
A
G
25700
T
G
C
A
G
T
G
G
T
G
C
G
A
T
C
T
C
G
G
C
T
C
A
C
A
G
C
A
G
C
C
T
C
C
G
C
C
T
T
C
C
G
A
G
C
T
C
A
A
G
25750
C
G
A
T
T
C
T
C
C
T
T
G
C
C
T
C
A
G
C
C
T
C
C
C
A
A
G
T
A
G
A
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
A
T
25800
C
A
C
C
A
T
G
C
C
C
A
G
C
T
G
A
T
T
T
T
T
G
T
A
T
T
T
T
T
A
G
T
A
G
A
G
A
C
C
A
G
G
C
T
G
G
T
T
T
T
25850
G
A
A
C
T
C
C
T
G
A
T
C
C
G
C
C
C
A
C
C
T
C
A
G
C
T
G
G
G
A
T
T
A
T
A
G
G
T
G
T
G
A
G
C
C
A
C
C
G
C
25900 |
var(25898):[T:0.05]
G
C
C
C
G
G
C
C
AG GTGTTCTTCA TCAGACTGCA GGGACACCTC CAGCAATTGC
25950
TGCATGGTTC CTGGGGAATG CCTGCATTAT TCTCCTAGTT TAAGGCAAAT
26000
GAGCCAATTT CCAGAACTGG ATTAGGGAAA TGGAAACCCA CACAAAGGAG
26050
GGGAATGAAG CTGAATGTTT CCCACTTCTT TTTCAG
A
T
T
T
A
C
A
T
G
A
G
C
C
C
26100 | Exon 7
I Y M S P 296
A
G
A
G
G
T
C
A
T
C
C
T
G
T
G
C
A
G
G
G
G
C
C
A
T
T
C
A
A
C
C
A
A
A
G
C
A
G
A
C
A
T
C
T
A
C
A
G
C
C
26150 |
var(26128):[T:0.01]
E V I L C R G H S T K A D I Y S 312
T
G
G
G
G
G
C
C
A
C
G
C
T
C
A
T
C
C
A
C
A
T
G
C
A
G
A
C
G
G
G
C
A
C
C
C
C
A
C
C
C
T
G
G
G
T
G
A
A
G
26200
L G A T L I H M Q T G T P P W V K 329
C
G
C
T
A
C
C
C
T
C
G
C
T
C
A
G
C
C
T
A
T
C
C
C
T
C
C
T
A
C
C
T
G
T
A
C
A
T
A
G TAAGTGGGGT
26250
R Y P R S A Y P S Y L Y I 342
TCAACCAGGG CTGGGGGCGG CGGGGGG
G
GG CGTTGAGTTA TGCATCCCGC
26300 |
var(26278):[A:0.01]
AGGCTTGGGA GGGACTGCTC TGCCTTCTAT ACCACCCCCA TCTGAATGAG
26350
GCAATG
G
TGA AATGACAGGT AGCTACAAGT TCTTCCCATG TAGAAGCAAG
26400 |
var(26357):[A:0.02]
CTCCATTCTT GCAAAGAAAA CATAGCTATT TTAGTGGGAG CTTACTAAAA
26450
TGTGCATTGG GCATAATTTA TGCTATTCCA TTGTATGTGT AATAATGCAA
26500
CACTACTTAG TAGCATCAGA GTAGCATAAA TATTTCAGCA AAGGAAGTTG
26550
TATGTGTTCT TTGAACAGTT AAAACATTTT TTATTATTAA TGTTCACACC
26600
AGTGTGGCTT GTAGTGGAA
C
ATGCAATTCC CATTTTACTG TTGATAAATT
26650 |
var(26620):[T:0.47]
CAGGAGCAGA CACTTCCCTG TTACTGCACA GTGACTTTTG GGACACTGAT
26700
TTGAAGCTGT CACTGACATT CAAACCTATC ACTTATCTTT TGTAACATTA
26750
AATCAGAAGA TGGGTTTAAC CTGGTATCCT TTAGAAATTA AAGTG
G
G
C
C
A
26800 |
REPEAT
A
G
C
A
C
G
G
T
G
G
C
T
C
A
C
G
C
C
T
G
T
A
A
T
C
T
C
A
G
C
A
C
T
T
T
A
G
A
A
A
G
C
C
A
A
A
A
C
A
A
26850 |
var(26816):[A:0.02]
A
A
G
G
A
T
C
T
C
T
T
G
A
G
C
C
C
A
G
A
A
A
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
G
C
A
A
C
A
A
A
G
C
A
A
26900
G
A
C
C
C
C
A
T
C
G
C
T
A
C
A
A
A
A
A
A
T
T
A
A
A
A
A
A
A
T
T
A
G
C
T
A
G
G
T
G
T
G
G
T
G
G
T
G
T
A
26950
T
G
C
C
C
T
G
T
G
G
T
C
C
C
A
G
T
T
G
C
A
T
G
G
G
A
G
G
C
T
G
A
G
G
T
G
A
G
A
G
G
A
T
C
A
C
T
T
G
A
27000
G
C
C
C
A
G
G
A
G
T
T
C
G
A
G
G
C
T
A
C
G
G
T
G
A
G
T
T
G
T
G
T
T
G
G
T
G
C
C
A
C
T
G
T
A
C
T
C
C
A
27050
G
C
C
T
G
G
A
T
G
A
C
A
G
A
G
C
A
A
A
G
A
C
C
C
T
G
T
C
T
C
A
A
A
A
G
G
A
A
A
A
G
A
A
A
A
A
A
G
A
A
27100
A
TTAAAGGGA AGCTTGCTTG CTTAAGGGCT GAACTGCATT CGTTGCAGGG
27150
CATGTGGTGG AAAACGGATT ACTTTCTAGG TCCTGGTACT AGCATGCTTT
27200
TGCTGTTGAG GGTGTATCAC CATACCTTTG ATGCTAAGAG AGCTGGTTTG
27250
TTGATAG
A
T
C
C
A
C
A
A
G
C
A
A
G
C
A
C
C
T
C
C
A
C
T
G
G
A
A
G
A
C
A
T
T
G
C
A
G
A
T
G
A
C
T
27300 | Exon 8
I H K Q A P P L E D I A D D 356
G
C
A
G
T
C
C
A
G
G
G
A
T
G
A
G
A
G
A
G
C
T
G
A
T
A
G
A
A
G
C
T
T
C
C
C
T
G
G
A
G
A
G
A
A
A
C
C
C
C
27350
C S P G M R E L I E A S L E R N P 373
A
A
T
C
A
C
C
G
C
C
C
A
A
G
A
G
C
C
G
C
A
G
A
C
C
T
A
C
T
A
A
A
A
C
A
T
G
A
G
G
C
C
C
T
G
A
A
C
C
C
27400
N H R P R A A D L L K H E A L N P 390
G
C
C
C
A
G
A
G
A
G
G
A
T
C
A
G
C
C
A
C
G
C
T
G
T
C
A
G
A
G
T
C
T
G
G
A
C
T
C
T
G
C
C
C
T
C
T
T
G
G
27450
P R E D Q P R C Q S L D S A L L 406
A
G
C
G
C
A
A
G
A
G
G
C
T
G
C
T
G
A
G
T
A
G
G
A
A
G
G
A
G
C
T
G
G
A
A
C
T
T
C
C
T
G
A
G
A
A
C
A
T
T
27500
E R K R L L S R K E L E L P E N I 423
G
C
T
G
GTAGGG ACACCCTGCT GTGTGCCGCA CACTTACTTC CCTTCTCTTT
27550
A 424
CTGTCCACAT CAAACCTCTG A
T
GTAGTTCA TGAAAGCACT TGGAAAAAAA
27600 |
var(27572):[C:0.08]
GGAAATGACT TCTTGAGTAC CATACCTTGC TTGAGAAATT TCAGCAAGAT
27650
TAGCAGAAGC ATGTT
T
TTTT TTTTAAATTG GCTAATTTAG CACCAAATTA
27700 |
var(27666):[G:0.01]
TAACAGATTT TCAGTGCAAG TGTAGGTAGC ACAGTCACTG GAAAATGCTT
27750
CTGACTTGCT TTTTTGCAAC TTGCTTTTTT ACAACTTTTG TCTTTGAAAA
27800
CAGATTGAGC ATGACAGCTT TGCAGTTGGT TCTTCTTAAC TCAC
T
T
T
T
T
T
27850 |
REPEAT
T
T
T
C
T
T
T
T
T
T
T
T
T
G
A
G
A
T
G
G
A
G
T
C
T
T
G
C
T
C
T
G
T
T
G
C
C
G
A
G
G
C
T
G
G
A
G
T
G
C
27900 |
var(27860):[G:0.01]
A
G
T
G
G
C
A
T
G
A
T
C
T
T
G
G
G
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
T
G
A
27950 |
var(27941):[T:0.41]
T
T
C
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
C
T
G
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
T
G
C
C
C
A
C
C
A
C
C
28000 |
var(27980):[C:0.02]
A
C
G
T
C
T
G
G
C
T
A
A
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
C
A
C
C
G
T
G
T
T
28050
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
C
A
A
T
C
C
A
C
C
T
G
C
C
T
T
G
G
C
28100
C
T
C
C
C
A
A
A
G
T
G
T
G
G
G
G
A
T
T
A
C
A
G
G
C
G
T
G
A
G
C
A
A
C
C
A
T
G
C
C
C
A
G
C
C
TAACT
28150
CATTTATATT AAGCCACCCC AGTCCTTGGT GGGGGAACAT CATGGCACTG
28200
CCCTGCACAG ATAAAATACT CAGTTTGAAG TCAACTTGCA TTTCCATCTT
28250
CCTTGGCTTA AAATCTTGCC AGTTGTAAAT TTTTCCCACT TAGGAAAGTC
28300
AGTATGCTTT CCAGGAGCAT TGAATATGCA TAAAGAGGGA TTTCCATTTT
28350
TATTAAAAGT CTGTGGCATT CTTAATCCAT TTAGGTCCAA ACCGAGATGT
28400
CAAGCCTGGT GCGCTTGTTT ATATTTCTTT GCTGCTTGTC TAACTTTTGT
28450
GTATTTAAAG AGAGCAATCT GGCTGTTGGA AAAATATGCC AGGATTTCTA
28500
ACTAATTTCT TGTCTCCATT GACTCCTGTT TGAACTTTTT GTTCTATGTC
28550
ATATTATGTG AACTTAGCCA TAGTGTTCAA AGACCCATCT TTCACGCTTA
28600
AGACACTGTT TTATTAGGCC CCAAAGATTT ATTTCACTGC AGAAGGAACA
28650
GGTATTTATC ATTT
G
ACACG TTTTCTTGTT ACTTACTTTG TAATGTTTTC
28700 |
var(28665):[T:0.07]
CTTTTCAG
A
T
T
C
T
T
C
G
T
G
C
A
C
A
G
G
A
A
G
C
A
C
C
G
A
G
G
A
A
T
C
T
G
A
G
A
T
G
C
T
C
A
28750 | Exon 9
D S S C T G S T E E S E M L 438
A
G
A
G
G
C
A
A
C
G
C
T
C
T
C
T
C
T
A
C
A
T
C
G
A
C
C
T
C
G
G
C
G
C
T
C
T
G
G
C
T
G
G
C
T
A
C
T
T
C
28800 |
var(28779):[T:0.03]
K R Q R S L Y I D L G A L A G Y F 455
A
A
T
C
T
T
G
T
T
C
G
G
G
G
A
C
C
A
C
C
A
A
C
G
C
T
T
G
A
A
T
A
T
G
G
C
T
G
A
A
G
G
A
T
G
C
C
A
T
G
28850 |
UTR
N L V R G P P T L E Y G 467
T
T
T
G
C
T
C
T
A
A
A
T
T
A
A
G
A
C
A
G
C
A
T
T
G
A
T
C
T
C
C
T
G
G
A
G
G
C
T
G
G
T
T
C
T
G
C
T
G
C
28900
C
T
C
T
A
C
A
C
A
G
G
G
G
C
C
C
T
G
T
A
C
A
G
T
G
A
A
T
G
G
T
G
C
C
A
T
T
T
T
C
G
A
A
G
G
A
G
C
A
G
28950
T
G
T
G
A
C
C
T
C
C
T
G
T
G
A
C
C
C
A
T
G
A
A
T
G
T
G
C
C
T
C
C
A
A
G
C
G
G
C
C
C
T
G
T
G
T
G
T
T
T
29000 |
var(28969):[G:0.10]
G
A
C
A
T
G
T
G
A
A
G
C
T
A
T
T
T
G
A
T
A
T
G
C
A
C
C
A
G
G
T
C
T
C
A
A
G
G
T
T
C
T
C
A
T
T
T
C
T
C
29050
A
G
G
T
G
A
C
G
T
G
A
T
T
C
T
A
A
G
G
C
A
G
G
A
A
T
T
T
G
A
G
A
G
T
T
C
A
C
A
G
A
A
G
G
A
T
C
G
T
G
29100
T
C
T
G
C
T
G
A
C
T
G
T
T
T
C
A
T
T
C
A
C
T
G
T
G
C
A
C
T
T
T
G
C
T
C
A
A
A
A
T
T
T
T
A
A
A
A
A
T
A
29150
C
C
A
A
T
C
A
C
A
A
G
G
A
T
A
A
T
A
G
A
G
T
A
G
C
C
T
A
A
A
A
T
T
A
C
T
A
T
T
C
T
T
G
G
T
T
C
T
T
A
29200
T
T
T
A
A
G
T
A
T
G
G
A
A
T
A
T
T
C
A
T
T
T
T
A
C
T
C
A
G
A
A
T
A
G
C
T
G
T
T
T
T
G
T
G
T
A
T
A
T
T
29250
G
G
T
G
T
A
T
A
T
T
A
T
A
T
A
A
C
T
C
T
T
T
G
A
G
C
C
T
T
T
A
T
T
G
G
T
A
A
A
T
T
C
T
G
G
T
A
T
A
C
29300 |
var(29271):[:0.02]
A
T
T
G
A
A
T
T
C
A
T
T
A
T
A
A
T
T
T
G
G
G
T
G
A
C
T
A
G
A
A
C
A
A
C
T
T
G
A
A
G
A
T
T
G
T
A
G
C
A
29350
A
T
A
A
G
C
T
G
G
A
C
T
A
G
T
G
T
C
C
T
A
A
A
A
A
T
G
G
C
T
A
A
C
T
G
A
T
G
A
A
T
T
A
G
A
A
G
C
C
A
29400
T
C
T
G
A
C
A
G
C
A
G
G
C
C
A
C
T
A
G
T
G
A
C
A
G
T
T
T
C
T
T
T
T
G
T
G
T
T
C
C
T
A
T
G
G
A
A
A
C
A
29450
T
T
T
T
A
T
A
C
T
G
T
A
C
A
T
G
C
T
A
T
G
C
T
G
A
A
G
A
C
A
T
T
C
A
A
A
A
C
G
T
G
A
T
G
T
T
T
T
G
A
29500
A
T
G
T
G
G
A
T
A
A
A
A
C
T
G
T
G
T
A
A
A
C
C
A
C
A
T
A
A
T
T
T
T
T
G
T
A
C
A
T
C
C
C
A
A
A
G
G
A
T
29550
G
A
G
A
A
T
G
T
G
A
C
C
T
T
T
A
A
G
A
A
A
A
A
T
G
A
A
A
A
C
T
T
T
T
G
T
A
A
A
T
T
A
T
T
G
A
T
G
A
T
29600
T
T
T
G
T
A
A
T
T
C
T
T
A
T
G
A
C
T
A
A
A
T
T
T
T
C
T
T
T
T
A
A
G
C
A
T
T
T
G
T
A
T
A
T
T
A
A
A
A
T
29650
A
G
C
A
T
A
C
T
G
T
G
T
A
T
G
T
T
T
T
A
T
A
T
C
A
A
A
T
G
C
C
T
T
C
A
T
G
A
A
T
C
T
T
T
C
A
T
A
C
A
29700
T
A
T
A
T
A
T
A
T
T
T
G
T
A
A
C
A
T
T
G
T
A
A
A
G
T
A
T
G
T
G
A
G
T
A
G
T
C
T
T
A
T
G
T
A
A
A
G
T
A
29750 |
var(29718):[C:0.01]
|
var(29731):[A:0.07]
T
G
T
T
T
T
T
A
C
A
T
T
A
T
G
C
A
A
A
T
A
A
A
A
C
C
C
A
A
T
A
C
T
T
T
T
G
T
C
C
A
A
T
G
T
G
G
T
T
G
29800 |
var(29793):[C:0.07]
|
var(29798):[C:0.06]
G
T
C
A
A
A
T
C
A
A
C
T
G
A
A
T
A
A
A
T
T
C
A
G
T
A
T
T
T
T
G
C
C
T
T
AGTTG TTGTGAAGCC
29850
TGTGATTCTC AGCTGGGACT GAGGATGGGC TATAGGAGTT GAGTTATAGA
29900
TTGGAAGGAA ATGTGTATCA TAAGAAGGCA AAAAATACCA GGAGCTTTGC
29950
AAATTGTATT AATACACTCC TTTTCTAT
T
G CTCTTGTATG AAGCTATTGT
30000 |
var(29979):[G:0.03]
CAGCTGGAAT GGTTTGCATC CCC
T
GGTACA TTGAGGTAGA AAAAACAATT
30050 |
var(30024):[C:0.47]
GTGGTTGTGC
C
C
T
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
T
G
C
T
G
A
A
G
C
G
G
G
A
A
A
A
C
30100 |
REPEAT
|
var(30062):[:0.99]
T
G
G
T
T
G
A
G
C
C
C
A
A
G
A
G
T
T
C
A
A
G
A
C
C
A
G
C
C
T
G
G
C
C
A
A
C
A
T
G
A
T
G
A
A
A
T
C
C
C
30150 |
var(30113):[G:0.08]
A
T
C
T
C
T
A
C
A
A
A
A
A
A
T
A
C
A
A
A
A
A
T
T
T
G
C
C
A
G
G
T
G
T
G
A
T
G
G
T
G
C
A
T
G
C
C
T
G
T
30200 |
var(30188):[A:0.03]
|
var(30197):[T:0.01]
A
G
T
C
C
C
A
G
C
T
A
C
T
C
A
G
G
T
G
G
C
T
G
A
G
A
T
G
T
G
A
G
G
A
T
C
A
C
T
T
A
A
G
C
C
T
G
G
G
A
30250 |
var(30240):[G:0.04]
|
var(30246):[C:0.11]
G
G
C
G
A
A
G
G
T
T
G
C
A
G
T
G
A
G
C
C
A
A
G
A
T
C
A
T
G
C
C
A
C
A
C
T
A
C
A
C
T
C
C
A
G
C
C
T
G
G
30300 |
var(30276):[T:0.01]
A
T
A
A
C
A
G
A
G
G
G
A
G
G
C
C
T
T
G
T
C
C
C
T
G
C
T
A
A
A
A
A
T
A
A
A
A
TAA TAATTGTGTG
30350
CCACTGGTTT AGGGTTATGT GGTTCTATTT TGCACCCTGT TTTTATATAT
30400
TTATACTATC CTTGAATACA CGCTTGCATA CTCTTTGCCC ATTGTTATGT
30450
GGCAAGCTAA TAACTAGCC
A
TTGTAGAAGG TGGCTTTAAC TCACATACAT
30500 |
var(30470):[G:0.01]
CAACTCTAGT GAAAACTGTT GAATGGAAGT CTGTCATCTA CATAGCAAAT
30550
AGTATTAAAC ACTTTTACAT GTGTTGTGTA AAACATGCCA TCCCTTGTAA
30600
TCCATGTAAA CACACATGAA ATATGC
A
T
T
G
C
T
A
C
C
T
C
T
T
T
T
T
T
C
T
C
A
G
A
G
30650 |
REPEAT
A
A
G
G
A
A
A
T
T
G
A
G
G
C
A
T
A
G
T
G
A
G
G
G
T
A
A
G
T
A
A
C
G
T
T
A
T
C
C
T
C
A
A
G
A
C
C
G
C
A
30700
A
A
G
C
A
A
G
T
G
A
A
G
A
A
A
C
A
G
C
T
G
G
T
A
T
T
T
A
A
A
C
C
C
A
G
T
C
C
T
T
T
C
T
G
G
C
T
C
C
A
30750
G
T
A
C
A
C
A
T
G
T
T
C
T
CCCTCGT ACGTTGCTGC TTGTAAGTGA GAGATCAACA
30800
CTGCAGAGGA AACAATTTCC TTTTCTGCCC CTCTGGTAAG GG
C
A
G
A
G
G
C
A
30850 |
REPEAT
G
A
C
T
G
A
C
C
A
T
G
A
A
G
C
T
A
A
T
G
A
A
G
C
T
T
C
A
G
C
C
T
C
A
G
G
G
C
T
C
C
T
C
A
C
T
T
G
C
A
30900
T
G
G
G
C
C
C
C
T
C
C
A
T
A
G
C
C
C
T
G
T
G
C
C
T
G
A
T
T
T
T
T
T
T
T
A
A
T
G
T
A
T
T
T
T
T
T
A
T
T
30950 |
var(30935):[A:0.02]
|
REPEAT
T
C
A
G
T
G
A
C
T
T
T
T
G
G
A
G
T
A
G
A
A
G
G
G
G
T
T
T
T
T
G
G
T
T
A
C
A
T
G
A
A
T
G
A
G
T
T
A
T
G
31000
T
A
G
T
G
G
T
G
A
A
T
T
A
T
A
A
A
A
C
T
T
C
A
A
T
G
G
A
C
C
C
A
T
C
A
C
C
T
G
A
G
T
A
G
T
G
T
A
T
G
31050
T
T
A
C
A
C
T
C
A
A
T
G
T
G
T
A
G
T
T
T
T
T
C
A
C
C
C
C
A
C
A
C
A
C
C
T
C
C
C
C
C
C
C
T
T
T
A
T
T
T
31100 |
var(31092):[T:0.02]
|
REPEAT
T
A
T
T
T
T
T
T
T
T
G
A
G
A
A
G
G
A
G
T
C
T
C
A
C
T
C
T
G
T
C
A
C
C
C
A
G
G
C
T
A
G
A
G
T
G
C
G
G
T
31150
G
G
C
A
T
G
A
T
C
T
T
G
G
C
T
C
A
C
T
G
C
A
A
C
C
T
C
C
G
T
C
T
C
C
C
A
G
G
T
T
C
A
A
G
C
A
A
T
T
A
31200 |
var(31173):[C:0.06]
T
C
A
T
G
C
C
T
C
A
G
C
C
T
C
G
A
T
A
A
T
C
C
C
A
G
T
A
G
C
T
G
G
G
A
T
T
A
C
A
G
G
C
A
T
G
C
A
C
C
31250
A
C
C
A
T
G
C
C
C
A
G
C
T
A
A
T
T
T
T
T
G
T
A
C
T
T
T
T
A
G
T
A
G
A
G
A
C
G
G
G
G
T
T
T
C
G
C
C
A
T
31300
G
T
T
G
G
C
C
A
G
G
C
T
G
G
T
C
T
G
G
A
A
C
T
C
C
T
G
A
C
C
T
C
A
A
A
T
G
A
T
C
T
G
C
C
C
A
C
C
T
T
31350
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
G
G
T
G
T
G
A
G
C
C
A
C
T
G
T
G
C
T
C
A
G
C
C
C
C
31400 |
REPEAT
A
C
C
C
T
C
C
C
C
C
A
T
T
A
T
T
T
C
A
C
T
C
T
G
T
A
T
G
C
C
T
T
T
G
C
G
T
A
T
T
C
A
T
A
G
C
T
T
A
G
31450
C
T
G
C
C
TGTGC CTAATTTCAT ATCACCCTAG ATCAGGCCCA ACAAAACTTG
31500
GACCTGCTCT TGGTTAAAGG TATACAGCTT TTGATAATTT TCATGAGATA
31550
CTCACATAGT CAATATGAAT TGAGTTCTAG TTAACAAATT CCATTTGGAG
31600
AA