BSG 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
G
T
C
C
A
G
C
G
G
G
G
A
T
G
T
G
G
G
T
G
G
C
A
A
G
G
T
C
C
A
G
G
T
G
G
T
T
C
T
A
T
A
G
G
G
G
A
G
G
G
50 |
NOT SCANNED
A
T
G
G
A
G
G
G
G
C
G
G
A
G
G
A
G
C
G
G
G
T
G
G
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
C
G
A
G
G
G
G
T
G
G
100
G
T
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
C
G
G
G
T
T
G
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
T
G
G
G
G
T
G
G
G
150
T
G
G
G
T
G
G
G
G
G
G
G
G
C
G
G
A
G
G
G
G
T
G
G
G
T
T
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
G
T
G
G
G
T
T
200
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
G
T
G
G
G
T
T
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
G
T
G
G
G
T
T
G
G
G
A
250
G
G
G
G
C
G
G
A
G
G
G
G
G
T
G
G
G
T
T
G
G
G
A
G
G
G
G
C
G
G
A
G
G
G
G
T
G
A
G
T
G
G
G
G
G
A
A
G
G
T
300
G
G
T
C
T
A
G
A
G
G
A
T
C
C
C
A
C
C
C
T
T
C
T
T
T
A
G
A
T
A
T
G
G
G
G
C
G
T
C
T
C
T
G
C
T
A
A
A
A
A
350 |
REPEAT
T
A
C
A
A
A
A
A
T
T
A
G
C
C
G
G
G
C
G
T
G
G
T
G
G
T
G
C
G
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
T
A
C
T
C
400
A
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
C
G
G
G
A
G
G
C
G
G
A
G
G
T
T
G
C
A
G
450
A
G
A
G
T
C
G
A
G
A
T
C
G
C
G
C
C
G
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
G
A
C
A
C
A
G
C
G
A
G
A
C
T
500
C
C
A
A
C
A
C
A
C
A
C
A
C
A
C
A
C
A
A
A
A
G
A
T
A
T
G
G
C
G
C
G
T
C
T
C
A
T
T
C
A
T
T
C
A
C
A
A
G
T
550 |
REPEAT
T
C
C
T
C
T
T
C
A
A
A
G
G
T
T
T
G
G
C
T
C
G
T
T
C
A
G
C
G
C
C
C
T
C
G
T
T
C
T
T
C
G
T
T
T
C
C
T
A
C
600
T
T
C
C
A
A
G
G
C
C
A
A
C
C
T
G
A
C
T
T
C
C
T
C
A
C
C
C
T
C
T
G
G
G
C
C
T
C
C
C
C
G
T
C
T
G
A
G
T
C
650
T
C
A
G
T
A
A
A
C
A
A
G
T
T
T
C
C
C
G
C
C
G
G
T
C
C
T
G
A
T
C
T
G
C
A
G
A
G
A
T
G
G
C
A
C
C
T
G
C
C
700
A
C
C
C
A
C
T
C
T
G
C
A
C
A
T
C
C
C
C
C
T
C
C
C
G
T
C
G
C
C
A
C
G
G
G
C
T
C
T
T
C
C
C
G
C
C
A
G
T
G
750
T
A
G
C
C
A
C
A
T
T
C
C
T
G
C
C
C
C
T
T
T
C
C
A
G
T
T
A
G
C
C
C
T
T
C
G
C
G
T
T
C
G
G
C
CCTTCG
800 |
var(781):[:0.98]
|
var(784):[G:0.02]
CGTTCGGCTT AGTCTGCGGT CCTCTTGCAT TGCGACTC
C
G AGTTTAACTT
850 |
var(839):[T:0.01]
CCAA
C
ACACA CTTTCAACCT CCAA
G
AGACG CCCCCACCTG TGTCGCCCCA
900 |
var(855):[T:0.01]
|
var(875):[A:0.02]
ATAGCGACTT TTCTCACCGT GGTCGCCGCG GAACTTCAAG GGTCC
T
T
C
C
T
950 |
REPEAT
A
C
C
C
G
C
G
T
T
G
C
T
G
A
G
A
G
T
C
T
G
G
G
T
T
T
A
C
G
C
G
T
C
A
C
C
T
C
G
G
G
C
G
G
G
A
C
C
C
G
1000 |
var(989):[A:0.01]
|
var(991):[T:0.02]
A
T
C
C
T
C
C
G
C
T
C
C
T
G
A
G
G
C
C
C
C
C
A
C
A
A
T
G
A
A
G
C
A
G
T
C
G
G
A
C
G
C
G
T
C
T
C
C
C
C
1050
A
A
G
A
A
A
G
G
T
A
A
C
C
G
C
C
A
G
C
C
T
C
T
C
C
T
G
A
A
A
C
A
G
A
A
T
G
G
G
A
T
C
C
A
A
A
T
G
G
G
1100
ATATTTGGGG GCGGCGAG
T
C
G
G
T
C
C
C
G
C
A
A
A
G
A
G
A
A
A
C
C
A
G
C
A
C
T
T
A
G
A
A
1150 |
REPEAT
A
A
T
T
T
C
T
C
A
G
C
G
A
G
A
C
C
A
C
T
T
T
A
C
T
T
G
T
A
C
G
G
A
A
G
G
G
G
G
C
T
G
C
C
T
G
C
G
T
G
1200
G
G
A
T
G
C
A
A
T
C
T
C
C
A
G
A
G
C
A
C
A
C
G
G
G
A
C
A
A
A
G
G
A
A
G
G
G
A
G
C
T
T
C
T
G
T
T
C
C
T
1250
C
T
G
T
C
C
T
T
T
C
C
C
T
G
T
T
G
G
C
T
G
G
G
G
T
T
G
G
A
C
G
C
C
C
A
C
A
A
T
C
T
A
A
G
C
T
G
A
T
C
1300
C
C
G
G
T
T
G
G
C
T
A
A
A
A
C
T
T
A
A
A
A
C
T
T
T
T
T
T
A
A
A
A
T
A
G
G
G
T
A
A
A
C
G
C
G
C
C
A
C
C
1350
T
G
C
G
A
G
G
A
A
A
G
A
A
G
A
A
G
G
G
G
GTAAGGTTGA TTGACAACTT TAGACCTGGA
1400 |
var(1367):[A:0.03]
AGTTGAGTTT CTGAAGAGGA ACTTACTTGT CCCAA
C
C
A
A
A
T
G
G
T
G
C
A
C
A
G
1450 |
REPEAT
G
A
C
G
T
T
T
A
T
A
C
T
A
A
G
A
A
A
T
T
A
T
T
C
A
T
T
T
T
C
T
G
A
G
A
T
C
C
A
G
A
T
T
C
A
A
G
T
G
C
1500 |
var(1454):[A:0.03]
|
var(1482):[T:0.09]
C
C
T
T
T
A
A
G
T
A
T
T
T
T
T
A
T
T
T
G
G
GCGGAGGAG GTCACTTCCT CCCACCTAAT
1550
TTATTAATAC GTTCATATAT ATATATATAT ATATGTACAT TTTTAAAGGC
1600
A
G
A
G
A
T
G
T
G
C
G
T
C
T
C
G
C
C
A
T
G
T
T
G
C
C
G
C
G
T
C
T
G
G
T
C
T
C
G
A
G
C
T
C
C
C
G
G
G
C
1650 |
REPEAT
T
C
A
A
G
C
G
A
T
C
T
T
C
C
C
G
C
C
T
C
G
A
C
C
T
C
C
C
A
A
G
G
C
T
C
T
G
G
G
A
G
T
A
C
A
G
A
C
G
T
1700
G
A
G
C
C
A
C
A
G
C
G
G
C
C
G
G
C
C
CG TGTTTAACTC AGATAAAATC TGGGTAACAC
1750 |
var(1711):[A:0.10]
ACTTTCAACG CTTCAACCCC CT
C
GGGCGCA CCGCTCTGCG CTCATT
G
CAA
1800 |
var(1773):[G:0.03]
|
var(1797):[C:0.49]
CTTTGAAAGC AGGAAGGAAG AAAT
G
CGCAG GCTCCAGCCG CGTCCCCGCA
1850 |
var(1825):[A:0.01]
GGCCCCACTC CCGTTTCCTA GCAACGCCGG GTCACGTGCG CCGCCGCCCG
1900
GATTCCGTAG CGTGAGCCTG CCGGAGCCGG CGCGTACATG CGAGCGTGTG
1950
CGCGCGTGCG CAGGC
G
GGGC GACCGGCGTC CCCGGCGCTC GCCCCGCCCC
2000 |
var(1966):[:0.01]
CGAGATGACG CCGTGC
G
T
G
C
G
C
G
C
G
C
C
C
G
G
T
C
C
G
C
G
C
C
T
C
C
G
C
C
G
C
T
T
T
T
2050 | Exon 1 |
UTR
T
A
T
A
G
C
G
G
C
C
G
C
G
G
G
C
G
G
C
G
G
C
G
G
C
A
G
C
G
G
T
T
G
G
A
G
G
T
T
G
T
A
G
G
A
C
C
G
G
C
2100 |
var(2064):[:0.03]
|
var(2076):[G:0.01]
G
A
G
G
A
A
T
A
G
G
A
A
T
C
A
T
G
G
C
G
G
C
T
G
C
G
C
T
G
T
T
C
G
T
G
C
T
G
C
T
G
G
G
A
T
T
C
G
C
G
2150
M A A A L F V L L G F A 12
C
T
G
C
T
G
G
G
C
A
C
C
C
A
C
G
G
A
G
C
C
T
C
C
G
G
G
G
C
T
G
GTGAGGAGC GGGTAGGGGG
2200
L L G T H G A S G A 22
CGGGGGTGCG GTCCTGCAGG GGCCGGGAAT GGAGGCCGCG GTGCCGACCC
2250
GAAGCCGACG GGAGCCTGGG GCCTCGGCGC GGGGCGGCCT
G
GGGTGCGAA
2300 |
var(2291):[T:0.04]
AGGCCGGCCC CGGGGGCTTC CCGCGCCAGC ATGGAGCTT
G
GGGGTGAAGT
2350 |
var(2340):[A:0.01]
CCCAGGG
T
TT GAGGGGGGAC TAGAGGTTCC TCCCGGCGCG GCCTGCCGGG
2400 |
var(2358):[C:0.07]
CTCCCCCGGG CGCTCCGGCC TC
G
A
G
C
C
C
G
G
C
C
T
C
TGTGTG TGGGCGTGAA
2450 |
var(2423):[:0.07]
GCTCCCTGCT TGGAGGC
G
GG AGCCAGG
G
GG TCCTGGCCAG GCCGGTCTTG
2500 |
var(2468):[A:0.09]
|
var(2478):[C:0.05]
GTCAGGGGAG GTGGGCGTCT TGCTTTTCGG TCACCTGGGG TTGGGGGT
T
T
2550 |
var(2549):[:0.93]
C
C
C
G
G
C
G
G
A
G
G
T
T
G
A
G
G
A
T
C
T
C
G
G
A
CCTGC TTCCTGGGTG AGGGCGTCTG
2600 |
var(2574):[:0.13]
CGAAGGCGGT TGGAGGTGGC CCGCCCGCCG GTCCCATCGG CCAGGAGAAG
2650
GGAGACCCAA AGCCTGGGTG AGCGTCCCCT TTGGCCTGGA GCCAGGGGTC
2700
AGGGGCTGG
T
TGGTGCCTGC CCAACCCGTC CTGCTGGGGC TGGACTCCGC
2750 |
var(2710):[C:0.07]
AGGACCTGGG GAAAGCGGCC TGGGCGTGGA ATCTGGAGAC GGGTCCACCC
2800
TGCCTGCGAG TGTTAGGGTC AGAGACCCTC CCCTGAGACT CTCTGGGGCC
2850
CCCGCAAGGG CCCGTGCGGC CTGGAGCGAT CATCTTGGCG CTCCCTTCTG
2900
GAAAAGGGGC TTTTGTCCTC CAAGAGCACA TGGAGGCTCT GAGTGGGTCA
2950
GCCCTCCGGA TCGGGAAGGG ATTACCGTTC TTCACGGGAT T
T
AGCCCTGG
3000 |
var(2992):[C:0.01]
CGTCTTGCCT AGGGCGTGCA CCTGCCCCCG GGTGTTCTCC CAGACTCTTA
3050
AGACCTCGCA GGCTCCCTCG AGGGGCCCTG CGTGGAAGGG AAGGCGGAAT
3100
CTCCCTCTGA TTCTGCCTGG ATTCAGCACC CAGAATGAGG TGGTCTCTGA
3150
ACGCCCCTCC TCCTTTACAG GCGAGGAAAC AGCCCTGTGG GAAGTCGAGG
3200
TT
C
CAAGGTC ACAGTGA
G
GG GGCCCTGGCC ACCCGATTCA GCGCAGGAAA
3250 |
var(3203):[G:0.13]
|
var(3218):[:0.08]
TAGTGAGAAA GT
C
G
T
T
T
T
T
A
G
C
C
G
A
C
T
C
T
G
A
C
C
C
G
C
A
T
T
C
G
G
T
T
T
C
C
A
G
T
3300 |
NOT SCANNED
G
C
T
G
T
C
T
T
A
G
G
A
G
G
G
C
C
G
T
G
T
G
T
T
G
A
G
G
G
T
G
G
G
C
A
A
A
C
G
T
G
G
T
T
T
G
G
A
G
A
3350
G
C
G
C
A
T
T
T
G
G
G
A
A
A
T
G
G
A
T
T
G
A
G
G
T
G
T
G
T
T
T
T
T
C
C
G
G
G
A
G
A
A
A
A
G
C
A
T
G
A
3400
C
A
T
C
C
T
T
T
C
T
T
G
C
T
T
C
A
T
A
G
A
A
A
A
T
T
T
C
T
T
C
C
T
T
T
G
T
T
G
A
G
A
C
C
C
C
C
A
T
T
3450
T
G
G
T
T
C
T
G
G
G
T
T
A
A
A
G
A
T
T
T
A
T
A
G
T
G
A
G
G
C
C
G
G
G
C
G
T
G
G
T
G
G
C
T
C
A
C
A
C
C
3500 |
REPEAT
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
G
G
G
T
G
G
A
T
C
A
C
C
T
G
A
G
G
T
C
A
3550
G
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
G
T
G
A
A
A
C
C
C
C
A
T
C
T
C
T
A
C
T
A
A
A
3600
A
A
T
A
C
A
A
A
A
A
T
T
A
G
C
T
G
G
G
C
G
T
G
T
T
G
G
C
G
C
A
C
G
C
C
T
G
T
A
A
T
C
C
C
A
G
C
C
A
C
3650
T
C
A
G
G
A
A
G
C
T
G
A
G
G
C
A
A
G
A
G
A
A
T
C
G
C
T
T
G
A
A
C
C
T
G
G
G
A
G
G
T
G
A
A
G
G
T
T
G
C
3700
A
G
T
G
A
G
C
T
G
A
T
A
T
C
A
T
G
C
C
A
C
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
T
A
A
C
A
G
G
G
A
G
A
C
T
3750
C
T
G
T
C
T
T
T
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
A
G
A
G
G
T
C
G
G
G
C
A
T
G
G
T
G
G
C
T
C
A
C
G
C
C
T
3800 |
REPEAT
G
T
A
A
T
C
C
C
A
G
C
A
C
T
T
T
G
G
G
A
G
G
C
C
G
A
G
G
C
G
G
G
C
G
G
A
T
C
A
C
G
A
G
G
T
C
A
A
G
A
3850
G
A
T
C
A
A
G
A
C
C
A
T
C
G
T
G
G
C
T
A
A
C
A
C
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
3900
A
C
A
A
A
A
A
A
T
T
A
G
C
C
T
G
G
C
G
T
G
G
T
G
G
C
G
G
G
C
G
C
C
T
G
T
A
G
T
C
C
C
A
G
C
T
G
C
T
A
3950
G
G
G
A
G
T
C
T
G
A
G
G
C
A
G
G
A
G
A
A
T
G
G
T
G
T
G
A
A
C
C
A
G
G
G
A
G
G
C
G
G
A
G
C
T
T
G
C
A
G
4000
T
G
A
G
C
C
G
A
G
A
T
C
G
C
G
C
C
A
T
T
G
C
A
C
T
C
C
A
G
C
C
T
G
G
G
C
G
A
C
A
G
A
G
C
G
A
G
A
C
C
4050
C
C
G
T
C
T
C
A
A
A
A
A
A
A
A
A
C
A
A
A
A
A
A
A
A
A
A
TTT ATTGTGACCG ATGTGTTGGG
4100
AACAAGGTGC AGAGCTGGAG GGTCTGGCCT CCTGAAGGGT CAAGAGCAAG
4150
GGCTTCGAGC CTCTGTCCTG GGCATTGAGC CGTAGGGGGC CTTGGGCAGA
4200
GGCTGGGGAG GGGGCTCCTT CTTCCAGAGG CTTTGCCAGC TAACTCCTGA
4250
CCTACGTCTG AGATTTCGTC TTCCTGGTAA CCAAAGTGGC CCTTTATCGA
4300
ATGTCTCCTG GGCAAGGGCC TGGCCCCAGC ACTGCGGCCA GCTCTCTGGG
4350
GAGACACAG
A
T
A
G
GAGCCCA TGGGTGAGGT GAGCGCGGAA GATAAGCCGC
4400 |
var(4360):[:0.02]
CCCCGCCAGC CCTGTGGAAA CCCAGCCAGG C
C
TGACTGGG TTTCAAGCAC
4450 |
var(4432):[T:0.07]
AGCACGAGGT TCCCACATTG AGCTAAT
T
TG GACAGCCAAG TGGGTGAAAG
4500 |
var(4478):[G:0.03]
ACCTTTGGTC TCTCCCTGCT GGGTAGGGTG GTTCACAGTT TTGTTCCTTT
4550
TGTGCATTTG TGCAGGAGAC TGAGAAGGGT TTCTTCT
G
AG CAGAAAGCTT
4600 |
var(4588):[C:0.07]
AGCCTGGGGC TTACTGGCCA GAGCTGCCTG CAGCCTGGGA AGCAGGTGGA
4650
GTCTGCAGTG CTG
G
CAGCGC CGCCGTGCAG CGGTGTAGCC GTGTGTGCGC
4700 |
var(4664):[A:0.07]
GTGTGTGTGT GTGGTGAGAA ACCCCACTTT TGCTGGGGAC TGACTCGTGA
4750
AGACCACAA
G
GTCTGGGCAA CACAGCCTTG GCCCGTGTGG GGTGGACACT
4800 |
var(4760):[A:0.12]
GCTGTTTGCT CTGTGAATTC GTGACTGTGT TTGCCTCTCC TGAAACTTGC
4850
TTCAGGGGCG TCTGCGGGTT GGTGGGGCAC AGCCGGGTGG GGTGAGTGCC
4900
CAAGGTTGGC CGTCCGCGTC TCCTGTGGGC TTGTCGGGGA CCGGAGGGC
C
4950 |
var(4950):[T:0.02]
GGGGTGTGCT AGCTGGGTCC CGAGGGTGGA GGGCTTCACC CCCGAGCCTC
5000
AGATGAGAGG AGTGGGAGTG CCTGGCTGCG GCCGGTGGGG GTGGGTGGGG
5050
GAGGTGCCCG AGGCTGCTTC CCAGAGCTGT TCTCGCTGGC TGCTGTCTGA
5100
GCACTGGGGT GGGTGGGGAG GAGGGCGGGT GGGGGCGGGC AGCCTTATCC
5150
TGCGGGGCTG CTTGTGTACA AGTACCAC
G
C GGCCTGCCTG GCCCTGAGCC
5200 |
var(5179):[A:0.01]
CT
G
GGCAAGG AGGCGGAGGC TGTTTTTAGA TGAAGGTGAC TTTACTTGAG
5250 |
var(5203):[:0.07]
AACATGGG
T
T ACGTCTCATG TGGCCAGAAT CGAATTCTAA CCTTTCTGGG
5300 |
var(5259):[C:0.06]
GCTGTGGCC
G
AGGGTCAGGC GCCGTCCCTC CTCCTGCTGC TCATGGGTGG
5350 |
var(5310):[T:0.07]
AGGCTCCTGG TGCGGCGGGC GAGATGGGGT GGTCCGTGGG
G
TGGGGGCGC
5400 |
var(5391):[A:0.01]
TC
T
GCATTGT CCCCGAGGAG CCTCT
A
TGGA GGCTTTCTCT TCCGGA
C
GCC
5450 |
var(5403):[C:0.01]
|
var(5426):[G:0.03]
|
var(5447):[T:0.21]
CCCCCACCCC CAGTGACA
C
G TCAATACACA GACACCAGCA TCATCAGCAT
5500 |
var(5469):[T:0.07]
CCGGAGGGAC ACAGGGTTGT TCCATCCAAA GCCTTTTGGT CCCTTTGGGA
5550
GCGATGCTGC CCGCTGAGAA GCTGGCGGAC CCAGCGGGAG CACCGGGACC
5600
GGTGCAGATG GCGCCTGGGA GCCCGGGACT CCTGGAAAGG TGGCTGGGGG
5650
CAGCTCGGCT GCGGGCCCCA CCTGGTCCTC CTCACTTTCC TGTGTGCCCT
5700
GCCCTGCCTG GAGGTGGGGT GAGGTGAGTC AGGGGCCAGC CCTCTCCTAG
5750
CACCCCTGGG TGAGGAGGAT GTGGAGCCCA GCCCTGCAGG TCTGGAGGAT
5800
GAGGAGAGGG GCTGCTGCAG GGCAGGAAGG AGCTTGCCAG CTGGGCAGCC
5850
TCTGGCTGTG