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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   BBS2_chr16_56479385_56525024  BBS2_chr16_56479385_56525024 (clean+top1000)

Multiple Alignments (by translate haplotype frequency)Multiple Alignments (by aa haplotype frequency) Multiple Alignments (by translate haplotype similarity)Multiple Alignments (by aa haplotype similarity)

Item Value
geneid 583
ensemblid ENSG00000125124.14
hgncid 967
symbol BBS2
name Bardet-Biedl syndrome 2
refseq_nuc NM_031885.5
refseq_prot NP_114091.4
ensembl_nuc ENST00000245157.11
ensembl_prot ENSP00000245157.5
mane_status MANE Select
chr chr16
start 56484385
end 56520024
strand -
ver v1.2
region chr16:56484385-56520024
region5000 chr16:56479385-56525024
regionname0 BBS2_chr16_56484385_56520024
regionname5000 BBS2_chr16_56479385_56525024

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 721 245 55 43 104 16 27 79 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002 0/1 721 133 18 21 81 0 12 71 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0003 0/0 721 11 11 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0004 0/0 721 7 0 0 4 0 3 1 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0005 0/0 721 1 0 0 1 0 0 1 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0006 1/0 721 1 0 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 2166 238 54 42 99 16 27 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0002 0/1 2166 131 18 21 79 0 12 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0003 0/0 2166 11 11 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0004 0/0 2166 7 0 0 4 0 3 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0005 0/0 2166 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0006 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0007 0/0 2166 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0008 0/0 2166 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0009 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0010 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0011 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0012 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
c0013 1/0 2166 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/1 539 338 66 59 163 16 32 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
t0002 0/0 539 33 2 2 19 0 10 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
t0003 0/0 539 14 14 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
t0004 0/0 539 11 1 3 7 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
t0005 0/0 539 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
t0006 0/0 539 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 18 1 4 7 1 5 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0002 0/0 13 0 3 10 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0003 0/0 12 0 0 12 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0004 0/0 10 5 0 2 2 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0005 0/0 8 0 3 0 2 3 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0006 0/0 7 0 0 7 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0007 0/0 7 0 1 4 0 2 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0008 0/0 6 1 0 3 0 2 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0009 0/0 5 1 0 4 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0010 0/0 4 4 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0011 0/0 3 0 0 2 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0012 0/0 3 3 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0013 0/0 3 0 1 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0014 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0015 0/0 3 0 1 1 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0016 0/0 3 0 3 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0017 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0018 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0019 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0020 0/0 2 0 0 0 0 2 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0021 0/0 2 1 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0022 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0023 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0024 0/0 2 0 2 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0025 0/0 2 1 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0026 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0027 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0028 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0029 0/0 2 1 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0030 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0031 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0032 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0033 0/0 2 0 1 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0034 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0035 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0036 0/0 2 0 1 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0037 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0038 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0039 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0040 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0041 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0042 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0043 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0044 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0045 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0046 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0047 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0048 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0049 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0050 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0051 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0052 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0053 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0054 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0055 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0056 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0057 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0058 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0059 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0060 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0061 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0062 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0063 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0064 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0065 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0066 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0067 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0068 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0069 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0070 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0071 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0072 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0073 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0074 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0075 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0076 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0077 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0078 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0079 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0080 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0081 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0082 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0083 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0084 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0085 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0086 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0087 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0088 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0089 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0090 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0091 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0092 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0093 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0094 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0095 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0096 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0097 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0098 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0099 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0100 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0101 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0102 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0103 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0104 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0105 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0106 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0107 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0108 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0109 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0110 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0111 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0112 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0113 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0114 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0115 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0116 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0117 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0118 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0119 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0120 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0121 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0122 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0123 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0124 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0125 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0126 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0127 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0128 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0129 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0130 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0131 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0132 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0133 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0134 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0135 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0136 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0137 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0138 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0139 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0140 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0141 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0142 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0143 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0144 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0145 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0146 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0147 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0148 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0149 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0150 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0151 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0152 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0153 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0154 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0155 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0156 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0157 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0158 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0159 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0160 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0161 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0162 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0163 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0164 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0165 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0166 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0167 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0168 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0169 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0170 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0171 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0172 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0173 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0174 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0175 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0176 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0177 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0178 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0179 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0180 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0181 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0182 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0183 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0184 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0185 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0186 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0187 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0188 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0189 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0190 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0191 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0192 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0193 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0194 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0195 1/0 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0196 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0197 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0198 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0199 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0200 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0201 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0202 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0203 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0204 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0205 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0206 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0207 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0208 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0209 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0210 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0211 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0212 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0213 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0214 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0215 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0216 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0217 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0218 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0219 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0220 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0221 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0222 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0223 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0224 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0225 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0226 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0227 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0228 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0229 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0230 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0231 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0232 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0233 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0234 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0235 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0236 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0237 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0238 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0239 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0240 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0241 0/1 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0242 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0243 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0244 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0245 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0246 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0247 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0248 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0249 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0250 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0251 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0252 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0253 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0254 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0255 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0256 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0257 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0258 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0259 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0260 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0261 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0262 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0263 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0264 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0265 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0266 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0267 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0268 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0269 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0270 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0271 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0272 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0273 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0274 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0275 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0276 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0277 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0278 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0279 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0280 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
g0281 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 2166 238 54 42 99 16 27 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0005 0/0 2166 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0006 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0007 0/0 2166 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0008 0/0 2166 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0009 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0002 0/1 2166 131 18 21 79 0 12 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0010 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0011 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0003c0003 0/0 2166 11 11 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0004c0004 0/0 2166 7 0 0 4 0 3 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0005c0012 0/0 2166 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0006c0013 1/0 2166 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 2704 234 50 42 99 16 27 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0001t0002 0/0 2704 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0001t0003 0/0 2704 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0001t0006 0/0 2704 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0005t0001 0/0 2704 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0006t0001 0/0 2704 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0007t0003 0/0 2704 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0008t0001 0/0 2704 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0001c0009t0001 0/0 2704 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0002t0001 0/1 2704 96 16 16 58 0 5 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0002t0002 0/0 2704 26 1 2 16 0 7 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0002t0004 0/0 2704 9 1 3 5 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0010t0001 0/0 2704 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0002c0011t0004 0/0 2704 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0003c0003t0003 0/0 2704 11 11 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0004c0004t0002 0/0 2704 6 0 0 3 0 3 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0004c0004t0005 0/0 2704 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0005c0012t0004 0/0 2704 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024
a0006c0013t0001 1/0 2704 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 copy fasta chr16 56479385 56525024

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 18 1 4 7 1 5 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0002 0/0 13 0 3 10 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0004 0/0 10 5 0 2 2 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0005 0/0 8 0 3 0 2 3 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0008 0/0 6 1 0 3 0 2 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0009 0/0 5 1 0 4 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0012 0/0 3 3 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0013 0/0 3 0 1 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0014 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0015 0/0 3 0 1 1 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0016 0/0 3 0 3 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0017 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0018 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0021 0/0 2 1 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0022 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0023 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0028 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0029 0/0 2 1 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0030 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0031 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0033 0/0 2 0 1 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0035 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0036 0/0 2 0 1 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0068 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0069 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0071 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0073 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0076 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0077 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0078 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0079 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0080 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0081 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0082 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0083 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0085 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0086 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0087 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0088 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0089 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0090 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0091 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0092 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0093 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0094 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0095 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0096 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0097 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0098 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0099 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0100 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0101 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0102 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0103 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0119 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0120 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0123 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0124 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0125 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0126 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0127 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0130 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0131 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0132 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0133 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0134 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0135 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0136 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0137 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0138 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0139 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0140 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0141 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0142 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0143 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0144 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0145 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0146 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0147 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0148 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0149 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0150 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0151 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0152 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0153 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0154 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0155 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0156 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0157 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0158 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0159 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0165 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0166 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0167 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0168 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0169 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0170 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0171 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0173 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0174 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0175 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0176 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0177 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0178 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0179 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0180 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0181 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0182 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0184 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0185 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0187 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0188 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0189 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0190 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0191 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0192 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0193 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0194 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0196 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0197 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0198 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0199 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0200 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0201 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0203 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0204 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0205 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0206 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0207 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0208 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0209 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0210 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0211 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0212 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0213 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0214 0/0 1 0 0 0 1 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0215 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0216 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0217 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0218 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0219 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0220 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0221 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0222 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0223 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0224 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0225 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0226 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0228 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0001g0229 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0002g0043 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0003g0280 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0003g0281 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0001t0006g0129 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0005t0001g0034 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0005t0001g0183 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0006t0001g0128 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0007t0003g0279 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0008t0001g0186 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0001c0009t0001g0227 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0003 0/0 12 0 0 12 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0006 0/0 7 0 0 7 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0007 0/0 7 0 1 4 0 2 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0010 0/0 4 4 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0019 0/0 3 0 0 3 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0024 0/0 2 0 2 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0026 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0032 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0070 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0104 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0105 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0108 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0109 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0111 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0113 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0114 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0115 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0116 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0117 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0118 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0161 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0162 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0163 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0164 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0230 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0231 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0232 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0233 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0234 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0235 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0236 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0237 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0238 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0239 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0240 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0241 0/1 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0242 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0243 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0244 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0245 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0246 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0247 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0248 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0249 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0250 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0251 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0252 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0253 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0254 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0255 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0256 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0257 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0258 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0259 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0260 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0261 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0262 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0263 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0265 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0266 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0267 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0268 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0269 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0270 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0001g0271 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0011 0/0 3 0 0 2 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0020 0/0 2 0 0 0 0 2 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0041 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0042 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0044 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0045 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0046 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0047 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0048 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0049 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0050 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0051 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0052 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0053 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0054 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0055 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0056 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0057 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0058 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0059 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0060 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0061 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0002g0062 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0025 0/0 2 1 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0027 0/0 2 0 0 2 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0106 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0107 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0110 0/0 1 0 1 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0112 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0002t0004g0122 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0010t0001g0264 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0002c0011t0004g0121 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0037 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0038 0/0 2 2 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0272 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0273 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0274 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0275 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0276 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0277 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0003c0003t0003g0278 0/0 1 1 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0002g0039 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0002g0040 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0002g0063 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0002g0064 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0002g0066 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0002g0067 0/0 1 0 0 0 0 1 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0004c0004t0005g0065 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0005c0012t0004g0160 0/0 1 0 0 1 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
a0006c0013t0001g0195 1/0 1 0 0 0 0 0 BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0036 EUR GBR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00099 hp2 a0001 c0001 t0001 g0001 EUR GBR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00140 hp1 a0001 c0001 t0001 g0214 EUR GBR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00140 hp2 a0001 c0001 t0001 g0213 EUR GBR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00280 hp1 a0001 c0001 t0001 g0193 EUR FIN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00280 hp2 a0001 c0001 t0001 g0005 EUR FIN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00323 hp1 a0001 c0001 t0001 g0123 EUR FIN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00323 hp2 a0001 c0001 t0001 g0073 EUR FIN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00408 hp1 a0001 c0001 t0001 g0002 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00408 hp2 a0001 c0001 t0001 g0224 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00423 hp1 a0004 c0004 t0002 g0066 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00423 hp2 a0001 c0001 t0001 g0014 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00438 hp1 a0001 c0001 t0001 g0002 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00438 hp2 a0002 c0002 t0001 g0003 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00544 hp1 a0001 c0001 t0001 g0203 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00544 hp2 a0001 c0001 t0001 g0209 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00558 hp1 a0001 c0001 t0001 g0002 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00558 hp2 a0004 c0004 t0002 g0063 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00609 hp1 a0001 c0001 t0001 g0002 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00609 hp2 a0002 c0002 t0001 g0114 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00621 hp1 a0001 c0001 t0001 g0035 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00621 hp2 a0001 c0001 t0001 g0205 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00639 hp1 a0001 c0001 t0001 g0001 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00639 hp2 a0001 c0001 t0001 g0219 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00642 hp1 a0002 c0002 t0001 g0251 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00642 hp2 a0001 c0001 t0001 g0002 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00673 hp1 a0001 c0001 t0001 g0173 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00673 hp2 a0002 c0002 t0002 g0011 EAS CHS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00733 hp1 a0002 c0002 t0001 g0007 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00733 hp2 a0001 c0001 t0001 g0015 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00735 hp1 a0002 c0002 t0001 g0244 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00735 hp2 a0001 c0001 t0001 g0001 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00738 hp1 a0001 c0001 t0001 g0171 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00738 hp2 a0001 c0008 t0001 g0186 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00741 hp1 a0002 c0002 t0002 g0045 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG00741 hp2 a0002 c0002 t0001 g0242 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01074 hp1 a0001 c0001 t0001 g0175 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01074 hp2 a0002 c0002 t0001 g0247 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01081 hp1 a0001 c0001 t0001 g0001 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01081 hp2 a0001 c0001 t0001 g0218 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01099 hp1 a0001 c0001 t0001 g0192 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01099 hp2 a0002 c0002 t0001 g0255 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01106 hp1 a0001 c0001 t0001 g0220 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01106 hp2 a0001 c0001 t0001 g0212 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01109 hp1 a0001 c0001 t0001 g0021 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01109 hp2 a0001 c0001 t0001 g0157 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01167 hp1 a0002 c0002 t0001 g0253 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01167 hp2 a0001 c0001 t0001 g0001 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01168 hp1 a0002 c0002 t0001 g0240 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01168 hp2 a0001 c0001 t0001 g0016 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01169 hp1 a0001 c0001 t0001 g0016 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01169 hp2 a0001 c0001 t0001 g0069 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01192 hp1 a0001 c0001 t0001 g0005 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01192 hp2 a0001 c0001 t0001 g0036 AMR PUR BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01255 hp1 a0001 c0001 t0001 g0091 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01255 hp2 a0001 c0001 t0001 g0180 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01256 hp1 a0001 c0001 t0001 g0174 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01256 hp2 a0002 c0002 t0001 g0246 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01258 hp1 a0001 c0001 t0001 g0225 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01258 hp2 a0001 c0001 t0001 g0177 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01346 hp1 a0001 c0001 t0001 g0005 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01346 hp2 a0002 c0002 t0004 g0106 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01358 hp1 a0001 c0001 t0001 g0141 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01358 hp2 a0001 c0001 t0001 g0190 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01433 hp1 a0002 c0002 t0004 g0110 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01433 hp2 a0001 c0001 t0001 g0169 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01496 hp1 a0001 c0001 t0001 g0005 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01496 hp2 a0001 c0001 t0001 g0137 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01515 hp1 a0001 c0001 t0001 g0071 EUR IBS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01515 hp2 a0001 c0001 t0001 g0098 EUR IBS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01516 hp1 a0001 c0001 t0001 g0099 EUR IBS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01516 hp2 a0001 c0001 t0001 g0015 EUR IBS BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01884 hp1 a0001 c0001 t0001 g0095 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01884 hp2 a0001 c0001 t0001 g0004 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01891 hp1 a0001 c0001 t0001 g0004 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01891 hp2 a0001 c0001 t0001 g0217 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01928 hp1 a0001 c0001 t0001 g0097 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01928 hp2 a0001 c0001 t0001 g0013 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01934 hp1 a0002 c0002 t0001 g0109 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01934 hp2 a0001 c0001 t0001 g0182 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01952 hp1 a0001 c0001 t0001 g0033 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01952 hp2 a0002 c0002 t0004 g0025 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01975 hp1 a0001 c0001 t0001 g0002 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01975 hp2 a0002 c0002 t0001 g0116 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01978 hp1 a0002 c0002 t0002 g0062 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01978 hp2 a0001 c0001 t0001 g0088 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01981 hp1 a0002 c0002 t0001 g0104 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01981 hp2 a0001 c0001 t0001 g0087 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02004 hp1 a0001 c0001 t0001 g0002 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02004 hp2 a0002 c0002 t0001 g0024 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02015 hp1 a0001 c0001 t0001 g0004 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02015 hp2 a0001 c0001 t0001 g0002 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02027 hp1 a0002 c0002 t0001 g0003 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02027 hp2 a0002 c0002 t0001 g0006 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02055 hp1 a0001 c0001 t0001 g0085 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02055 hp2 a0001 c0001 t0001 g0029 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02056 hp1 a0001 c0001 t0001 g0029 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02056 hp2 a0001 c0001 t0001 g0136 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02080 hp1 a0002 c0002 t0001 g0113 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02080 hp2 a0001 c0001 t0001 g0008 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02083 hp1 a0001 c0001 t0001 g0140 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02083 hp2 a0002 c0002 t0002 g0058 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02129 hp1 a0002 c0002 t0001 g0003 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02129 hp2 a0001 c0001 t0001 g0002 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02135 hp1 a0004 c0004 t0002 g0064 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02135 hp2 a0001 c0001 t0001 g0035 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02145 hp1 a0001 c0001 t0001 g0150 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02145 hp2 a0002 c0002 t0001 g0163 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02148 hp1 a0002 c0002 t0001 g0115 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02148 hp2 a0001 c0001 t0001 g0126 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02155 hp1 a0002 c0002 t0001 g0006 EAS CDX BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02155 hp2 a0001 c0001 t0001 g0191 EAS CDX BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02257 hp1 a0001 c0001 t0001 g0102 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02257 hp2 a0001 c0001 t0001 g0083 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02258 hp1 a0003 c0003 t0003 g0037 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02258 hp2 a0001 c0001 t0001 g0008 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02280 hp1 a0001 c0001 t0001 g0022 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02280 hp2 a0003 c0003 t0003 g0273 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02293 hp1 a0002 c0002 t0001 g0024 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02293 hp2 a0001 c0001 t0001 g0101 AMR PEL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02451 hp1 a0002 c0002 t0001 g0010 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02451 hp2 a0001 c0001 t0001 g0156 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02523 hp1 a0001 c0001 t0001 g0001 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02523 hp2 a0001 c0001 t0001 g0196 EAS KHV BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02572 hp1 a0001 c0001 t0001 g0094 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02572 hp2 a0001 c0001 t0001 g0159 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02602 hp1 a0001 c0001 t0001 g0005 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02602 hp2 a0002 c0002 t0002 g0061 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02615 hp1 a0001 c0001 t0001 g0078 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02615 hp2 a0002 c0002 t0001 g0010 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02622 hp1 a0001 c0001 t0001 g0216 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02622 hp2 a0001 c0001 t0003 g0280 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02630 hp1 a0001 c0001 t0001 g0208 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02630 hp2 a0001 c0001 t0001 g0132 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02698 hp1 a0001 c0001 t0001 g0004 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02698 hp2 a0001 c0001 t0001 g0001 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02717 hp1 a0001 c0007 t0003 g0279 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02717 hp2 a0003 c0003 t0003 g0038 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02723 hp1 a0001 c0001 t0001 g0004 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02723 hp2 a0002 c0002 t0001 g0010 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02735 hp1 a0001 c0001 t0001 g0077 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02735 hp2 a0001 c0001 t0001 g0008 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02738 hp1 a0002 c0002 t0001 g0270 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02738 hp2 a0001 c0001 t0001 g0168 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02809 hp1 a0001 c0001 t0001 g0031 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02809 hp2 a0001 c0001 t0002 g0043 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02818 hp1 a0001 c0001 t0001 g0001 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02818 hp2 a0003 c0003 t0003 g0276 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02886 hp1 a0001 c0001 t0001 g0139 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02886 hp2 a0001 c0001 t0001 g0081 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02895 hp1 a0001 c0001 t0006 g0129 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02895 hp2 a0002 c0002 t0001 g0233 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02965 hp1 a0001 c0001 t0001 g0148 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02965 hp2 a0002 c0002 t0001 g0162 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02970 hp1 a0001 c0001 t0001 g0004 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02970 hp2 a0001 c0001 t0001 g0012 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02976 hp1 a0002 c0002 t0001 g0231 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02976 hp2 a0001 c0001 t0001 g0076 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03017 hp1 a0002 c0002 t0002 g0050 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03017 hp2 a0001 c0001 t0001 g0001 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03041 hp1 a0001 c0001 t0001 g0131 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03041 hp2 a0002 c0002 t0001 g0252 AFR GWD BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03098 hp1 a0001 c0001 t0003 g0281 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03098 hp2 a0001 c0001 t0001 g0197 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03130 hp1 a0003 c0003 t0003 g0274 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03130 hp2 a0001 c0001 t0001 g0222 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03139 hp1 a0002 c0002 t0001 g0032 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03139 hp2 a0003 c0003 t0003 g0038 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03195 hp1 a0001 c0001 t0001 g0142 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03195 hp2 a0001 c0001 t0001 g0004 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03209 hp1 a0001 c0001 t0001 g0144 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03209 hp2 a0003 c0003 t0003 g0277 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03225 hp1 a0001 c0001 t0001 g0022 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03225 hp2 a0001 c0001 t0001 g0199 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03453 hp1 a0001 c0001 t0001 g0012 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03453 hp2 a0002 c0002 t0001 g0164 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03486 hp1 a0001 c0001 t0001 g0155 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03486 hp2 a0003 c0003 t0003 g0272 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03490 hp1 a0002 c0002 t0001 g0007 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03490 hp2 a0001 c0001 t0001 g0005 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03491 hp1 a0001 c0001 t0001 g0008 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03491 hp2 a0002 c0002 t0002 g0020 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03492 hp1 a0002 c0002 t0002 g0020 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03492 hp2 a0001 c0001 t0001 g0005 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03516 hp1 a0002 c0002 t0001 g0236 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03516 hp2 a0003 c0003 t0003 g0275 AFR ESN BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03579 hp1 a0001 c0001 t0001 g0009 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03579 hp2 a0001 c0001 t0001 g0215 AFR MSL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03654 hp1 a0004 c0004 t0002 g0067 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03654 hp2 a0001 c0001 t0001 g0127 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03688 hp1 a0004 c0004 t0002 g0039 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03688 hp2 a0001 c0001 t0001 g0207 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03704 hp1 a0001 c0001 t0001 g0130 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03704 hp2 a0002 c0002 t0002 g0011 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03710 hp1 a0001 c0001 t0001 g0001 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03710 hp2 a0001 c0001 t0001 g0176 SAS PJL BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03831 hp1 a0001 c0001 t0001 g0092 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03831 hp2 a0002 c0002 t0002 g0042 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03834 hp1 a0002 c0002 t0001 g0007 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03834 hp2 a0001 c0001 t0001 g0170 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03927 hp1 a0001 c0001 t0001 g0001 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03927 hp2 a0001 c0001 t0001 g0166 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03942 hp1 a0001 c0001 t0001 g0154 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG03942 hp2 a0001 c0001 t0001 g0133 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04115 hp1 a0001 c0001 t0001 g0206 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04115 hp2 a0002 c0002 t0001 g0250 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04184 hp1 a0001 c0001 t0001 g0135 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04184 hp2 a0001 c0001 t0001 g0001 SAS BEB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04199 hp1 a0001 c0001 t0001 g0125 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04199 hp2 a0004 c0004 t0002 g0040 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04204 hp1 a0002 c0002 t0001 g0237 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG04204 hp2 a0002 c0002 t0002 g0054 SAS STU BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18522 hp1 a0001 c0001 t0001 g0079 AFR YRI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18522 hp2 a0003 c0003 t0003 g0037 AFR YRI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18612 hp1 a0001 c0001 t0001 g0089 EAS CHB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18612 hp2 a0002 c0002 t0001 g0108 EAS CHB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18747 hp1 a0001 c0001 t0001 g0152 EAS CHB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18747 hp2 a0001 c0001 t0001 g0014 EAS CHB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18906 hp1 a0001 c0001 t0001 g0021 AFR YRI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18906 hp2 a0002 c0002 t0001 g0234 AFR YRI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18939 hp1 a0001 c0001 t0001 g0017 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18939 hp2 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18940 hp1 a0001 c0001 t0001 g0184 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18940 hp2 a0001 c0001 t0001 g0001 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18941 hp1 a0001 c0001 t0001 g0001 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18941 hp2 a0002 c0002 t0004 g0122 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18942 hp1 a0002 c0002 t0001 g0268 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18942 hp2 a0001 c0001 t0001 g0008 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18943 hp1 a0001 c0001 t0001 g0002 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18943 hp2 a0002 c0002 t0002 g0052 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18944 hp1 a0002 c0002 t0001 g0118 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18944 hp2 a0001 c0001 t0001 g0119 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18945 hp1 a0001 c0001 t0001 g0001 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18945 hp2 a0001 c0001 t0001 g0178 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18946 hp1 a0001 c0001 t0001 g0187 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18946 hp2 a0001 c0006 t0001 g0128 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18947 hp1 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18947 hp2 a0001 c0001 t0001 g0149 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18948 hp1 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18948 hp2 a0001 c0005 t0001 g0034 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18949 hp1 a0001 c0001 t0001 g0134 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18949 hp2 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18950 hp1 a0002 c0002 t0002 g0048 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18950 hp2 a0002 c0002 t0001 g0006 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18951 hp1 a0001 c0001 t0001 g0014 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18951 hp2 a0002 c0002 t0001 g0007 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18952 hp1 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18952 hp2 a0002 c0002 t0002 g0011 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18953 hp1 a0001 c0001 t0001 g0200 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18953 hp2 a0002 c0002 t0001 g0243 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18959 hp1 a0005 c0012 t0004 g0160 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18959 hp2 a0002 c0002 t0001 g0230 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18960 hp1 a0001 c0001 t0001 g0004 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18960 hp2 a0002 c0010 t0001 g0264 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18961 hp1 a0001 c0001 t0001 g0228 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18961 hp2 a0001 c0001 t0001 g0103 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18962 hp1 a0002 c0011 t0004 g0121 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18962 hp2 a0002 c0002 t0001 g0266 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18964 hp1 a0002 c0002 t0002 g0053 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18964 hp2 a0001 c0001 t0001 g0147 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18966 hp1 a0001 c0001 t0001 g0143 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18966 hp2 a0001 c0001 t0001 g0201 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18967 hp1 a0001 c0001 t0001 g0013 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18967 hp2 a0002 c0002 t0001 g0271 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18968 hp1 a0001 c0001 t0001 g0018 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18968 hp2 a0001 c0001 t0001 g0146 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18969 hp1 a0001 c0001 t0001 g0189 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18969 hp2 a0002 c0002 t0002 g0041 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18971 hp1 a0001 c0001 t0001 g0153 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18971 hp2 a0001 c0005 t0001 g0034 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18975 hp1 a0001 c0001 t0001 g0084 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18975 hp2 a0002 c0002 t0001 g0257 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18977 hp1 a0002 c0002 t0001 g0006 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18977 hp2 a0001 c0001 t0001 g0033 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18978 hp1 a0002 c0002 t0001 g0254 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18978 hp2 a0001 c0009 t0001 g0227 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18979 hp1 a0002 c0002 t0001 g0258 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18979 hp2 a0002 c0002 t0002 g0059 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18980 hp1 a0001 c0001 t0001 g0013 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18980 hp2 a0002 c0002 t0001 g0249 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18981 hp1 a0001 c0001 t0001 g0100 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18981 hp2 a0002 c0002 t0001 g0019 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18982 hp1 a0001 c0001 t0001 g0074 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18982 hp2 a0001 c0001 t0001 g0090 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18983 hp1 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18983 hp2 a0002 c0002 t0001 g0019 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18985 hp1 a0001 c0001 t0001 g0030 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18985 hp2 a0001 c0001 t0001 g0072 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18986 hp1 a0001 c0001 t0001 g0075 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18986 hp2 a0002 c0002 t0001 g0256 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18987 hp1 a0002 c0002 t0002 g0056 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18987 hp2 a0002 c0002 t0004 g0112 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18988 hp1 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18988 hp2 a0002 c0002 t0001 g0070 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18989 hp1 a0002 c0002 t0002 g0044 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18989 hp2 a0001 c0001 t0001 g0151 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18990 hp1 a0001 c0001 t0001 g0172 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18990 hp2 a0002 c0002 t0001 g0267 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18991 hp1 a0001 c0001 t0001 g0179 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18991 hp2 a0002 c0002 t0001 g0245 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18992 hp1 a0001 c0001 t0001 g0023 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18992 hp2 a0002 c0002 t0001 g0238 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18994 hp1 a0002 c0002 t0001 g0261 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18994 hp2 a0002 c0002 t0002 g0060 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18999 hp1 a0002 c0002 t0001 g0007 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18999 hp2 a0001 c0001 t0001 g0223 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19000 hp1 a0001 c0001 t0001 g0211 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19000 hp2 a0001 c0001 t0001 g0185 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19001 hp1 a0001 c0001 t0001 g0002 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19001 hp2 a0002 c0002 t0001 g0161 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19002 hp1 a0001 c0001 t0001 g0226 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19002 hp2 a0002 c0002 t0001 g0026 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19003 hp1 a0002 c0002 t0001 g0026 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19003 hp2 a0001 c0001 t0001 g0008 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19004 hp1 a0002 c0002 t0001 g0007 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19004 hp2 a0001 c0001 t0001 g0018 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19005 hp1 a0002 c0002 t0001 g0239 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19005 hp2 a0001 c0001 t0001 g0002 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19006 hp1 a0001 c0001 t0001 g0181 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19006 hp2 a0001 c0001 t0001 g0030 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19009 hp1 a0001 c0001 t0001 g0001 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19009 hp2 a0002 c0002 t0001 g0007 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19010 hp1 a0001 c0001 t0001 g0028 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19010 hp2 a0002 c0002 t0001 g0105 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19011 hp1 a0002 c0002 t0002 g0051 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19011 hp2 a0001 c0001 t0001 g0167 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19012 hp1 a0001 c0001 t0001 g0017 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19012 hp2 a0001 c0001 t0001 g0009 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19030 hp1 a0003 c0003 t0003 g0278 AFR LWK BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19030 hp2 a0002 c0002 t0002 g0046 AFR LWK BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19043 hp1 a0001 c0001 t0001 g0086 AFR LWK BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19043 hp2 a0002 c0002 t0001 g0010 AFR LWK BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19056 hp1 a0001 c0001 t0001 g0017 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19056 hp2 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19057 hp1 a0001 c0001 t0001 g0028 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19057 hp2 a0002 c0002 t0001 g0263 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19058 hp1 a0002 c0002 t0001 g0006 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19058 hp2 a0001 c0001 t0001 g0202 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19062 hp1 a0001 c0001 t0001 g0009 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19062 hp2 a0002 c0002 t0001 g0006 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19065 hp1 a0002 c0002 t0004 g0027 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19065 hp2 a0001 c0001 t0001 g0002 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19066 hp1 a0002 c0002 t0001 g0117 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19066 hp2 a0002 c0002 t0002 g0049 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19067 hp1 a0001 c0005 t0001 g0183 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19067 hp2 a0001 c0001 t0001 g0221 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19070 hp1 a0002 c0002 t0004 g0027 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19070 hp2 a0001 c0001 t0001 g0165 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19075 hp1 a0002 c0002 t0002 g0047 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19075 hp2 a0001 c0001 t0001 g0204 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19076 hp1 a0001 c0001 t0001 g0145 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19076 hp2 a0001 c0001 t0001 g0018 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19077 hp1 a0002 c0002 t0001 g0003 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19077 hp2 a0001 c0001 t0001 g0001 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19079 hp1 a0002 c0002 t0001 g0111 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19079 hp2 a0002 c0002 t0002 g0057 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19080 hp1 a0002 c0002 t0001 g0006 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19080 hp2 a0001 c0001 t0001 g0001 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19081 hp1 a0001 c0001 t0001 g0210 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19081 hp2 a0002 c0002 t0001 g0019 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19082 hp1 a0002 c0002 t0001 g0259 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19082 hp2 a0001 c0001 t0001 g0188 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19084 hp1 a0004 c0004 t0005 g0065 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19084 hp2 a0001 c0001 t0001 g0198 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19085 hp1 a0002 c0002 t0001 g0269 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19085 hp2 a0001 c0001 t0001 g0015 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19086 hp1 a0002 c0002 t0002 g0055 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19086 hp2 a0002 c0002 t0001 g0265 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19087 hp1 a0001 c0001 t0001 g0096 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19087 hp2 a0002 c0002 t0004 g0107 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19090 hp1 a0001 c0001 t0001 g0120 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19090 hp2 a0002 c0002 t0001 g0260 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19091 hp1 a0002 c0002 t0001 g0262 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19091 hp2 a0001 c0001 t0001 g0009 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19240 hp1 a0001 c0001 t0001 g0031 AFR YRI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA19240 hp2 a0001 c0001 t0001 g0068 AFR YRI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20129 hp1 a0002 c0002 t0004 g0025 AFR ASW BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20129 hp2 a0001 c0001 t0001 g0012 AFR ASW BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20752 hp1 a0001 c0001 t0001 g0004 EUR TSI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20752 hp2 a0001 c0001 t0001 g0194 EUR TSI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20805 hp1 a0001 c0001 t0001 g0004 EUR TSI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20805 hp2 a0001 c0001 t0001 g0005 EUR TSI BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20905 hp1 a0001 c0001 t0001 g0124 SAS GIH BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20905 hp2 a0001 c0001 t0001 g0080 SAS GIH BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01123 hp1 a0002 c0002 t0001 g0248 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG01123 hp2 a0001 c0001 t0001 g0016 AMR CLM BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02109 hp1 a0001 c0001 t0001 g0229 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02109 hp2 a0001 c0001 t0001 g0082 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02559 hp1 a0001 c0001 t0001 g0158 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG02559 hp2 a0001 c0001 t0001 g0138 AFR ACB BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG06807 hp1 a0001 c0001 t0001 g0093 AFR USA BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
HG06807 hp2 a0002 c0002 t0001 g0235 AFR USA BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18955 hp1 a0001 c0001 t0001 g0023 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA18955 hp2 a0001 c0001 t0001 g0009 EAS JPT BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20300 hp1 a0002 c0002 t0001 g0032 AFR USA BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
NA20300 hp2 a0002 c0002 t0001 g0232 AFR USA BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
homoSapiens_chm13v2 hp1 a0002 c0002 t0001 g0241 REF REF BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024
homoSapiens_grch38 hp1 a0006 c0013 t0001 g0195 REF REF BBS2_chr16_56479385_56525024 BBS2 chr16 56479385 56525024

chr:pos ref alt #
# of ahapid:amino-acid(protein) level
 ahapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr16:56484802 T
T
 A
A
 1 a0005
a0005
 1 NA18959.hp1
NA18959.hp1
 missense_variant MODERATE c.2125A>T
c.2125A>T
 p.Thr709Ser
p.Thr709Ser
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 17/17 2287/2704 2125/2166 709/721 chr16 56484802
chr16:56499794 G
G
 A
A
 1 a0003
a0003
 11 HG02258.hp1
HG02280.hp2
HG02717.hp2
others(8): Show 
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 missense_variant MODERATE c.1511C>T
c.1511C>T
 p.Ala504Val
p.Ala504Val
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 12/17 1673/2704 1511/2166 504/721 chr16 56499794
chr16:56502748 T
T
 C
C
 1 a0004
a0004
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 missense_variant MODERATE c.865A>G
c.865A>G
 p.Ile289Val
p.Ile289Val
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 8/17 1027/2704 865/2166 289/721 chr16 56502748
chr16:56511263 T
T
 C
C
 2 a0002
a0005
a0002
a0005
 134 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(131): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.367A>G
c.367A>G
 p.Ile123Val
p.Ile123Val
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 3/17 529/2704 367/2166 123/721 chr16 56511263
chr16:56514589 C
C
 T
T
 5 a0001
a0002
a0003
others(2): Show 
a0001
a0002
a0003
a0004
a0005
 397 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(394): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.209G>A
c.209G>A
 p.Ser70Asn
p.Ser70Asn
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/17 371/2704 209/2166 70/721 chr16 56514589

chr:pos ref alt #
# of chapid
 chapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr16:56484848 C
C
 T
T
 1 a0001c0005
a0001c0005
 3 NA18948.hp2
NA18971.hp2
NA19067.hp1
NA18948.hp2
NA18971.hp2
NA19067.hp1
 synonymous_variant LOW c.2079G>A
c.2079G>A
 p.Gln693Gln
p.Gln693Gln
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 17/17 2241/2704 2079/2166 693/721 chr16 56484848
chr16:56497800 A
A
 G
G
 1 a0002c0011
a0002c0011
 1 NA18962.hp1
NA18962.hp1
 synonymous_variant LOW c.1740T>C
c.1740T>C
 p.Leu580Leu
p.Leu580Leu
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 14/17 1902/2704 1740/2166 580/721 chr16 56497800
chr16:56500871 G
G
 A
A
 1 a0001c0008
a0001c0008
 1 HG00738.hp2
HG00738.hp2
 synonymous_variant LOW c.1380C>T
c.1380C>T
 p.Phe460Phe
p.Phe460Phe
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/17 1542/2704 1380/2166 460/721 chr16 56500871
chr16:56501420 C
C
 T
T
 1 a0002c0010
a0002c0010
 1 NA18960.hp2
NA18960.hp2
 synonymous_variant LOW c.1158G>A
c.1158G>A
 p.Thr386Thr
p.Thr386Thr
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/17 1320/2704 1158/2166 386/721 chr16 56501420
chr16:56501468 A
A
 G
G
 1 a0001c0007
a0001c0007
 1 HG02717.hp1
HG02717.hp1
 synonymous_variant LOW c.1110T>C
c.1110T>C
 p.Ala370Ala
p.Ala370Ala
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/17 1272/2704 1110/2166 370/721 chr16 56501468
chr16:56502452 C
C
 T
T
 1 a0001c0006
a0001c0006
 1 NA18946.hp2
NA18946.hp2
 synonymous_variant LOW c.945G>A
c.945G>A
 p.Arg315Arg
p.Arg315Arg
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/17 1107/2704 945/2166 315/721 chr16 56502452
chr16:56505971 T
T
 G
G
 1 a0001c0009
a0001c0009
 1 NA18978.hp2
NA18978.hp2
 synonymous_variant LOW c.783A>C
c.783A>C
 p.Ile261Ile
p.Ile261Ile
 BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/17 945/2704 783/2166 261/721 chr16 56505971

chr:pos ref alt #
# of thapid:transcript level
 thapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid transcript_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr16:56484445 T
T
 C
C
 1 a0001c0001t0006
a0001c0001t0006
 1 HG02895.hp1
HG02895.hp1
 3_prime_UTR_variant MODIFIER c.*316A>G
c.*316A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 17/17 316 chr16 56484445
chr16:56484670 G
G
 A
A
 1 a0004c0004t0005
a0004c0004t0005
 1 NA19084.hp1
NA19084.hp1
 3_prime_UTR_variant MODIFIER c.*91C>T
c.*91C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 17/17 91 chr16 56484670
chr16:56484748 G
G
 A
A
 3 a0002c0002t0004
a0002c0011t0004
a0005c0012t0004
a0002c0002t0004
a0002c0011t0004
a0005c0012t0004
 11 HG01346.hp2
HG01433.hp1
HG01952.hp2
others(8): Show 
HG01346.hp2
HG01433.hp1
HG01952.hp2
NA18941.hp2
NA18959.hp1
NA18962.hp1
NA18987.hp2
NA19065.hp1
NA19070.hp1
NA19087.hp2
NA20129.hp1
 3_prime_UTR_variant MODIFIER c.*13C>T
c.*13C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 17/17 13 chr16 56484748
chr16:56519902 A
A
 G
G
 7 a0001c0001t0002
a0001c0001t0003
a0001c0007t0003
others(4): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0007t0003
a0002c0002t0002
a0003c0003t0003
a0004c0004t0002
a0004c0004t0005
 48 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(45): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 5_prime_UTR_variant MODIFIER c.-40T>C
c.-40T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/17 40 chr16 56519902
chr16:56519904 A
A
 C
C
 7 a0001c0001t0002
a0001c0001t0003
a0001c0007t0003
others(4): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0007t0003
a0002c0002t0002
a0003c0003t0003
a0004c0004t0002
a0004c0004t0005
 48 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(45): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-42T>G
c.-42T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/17 chr16 56519904
chr16:56519999 G
G
 C
C
 3 a0001c0001t0003
a0001c0007t0003
a0003c0003t0003
a0001c0001t0003
a0001c0007t0003
a0003c0003t0003
 14 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(11): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 5_prime_UTR_variant MODIFIER c.-137C>G
c.-137C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/17 137 chr16 56519999

chr:pos ref alt #
# of ghapid:genebody level
 ghapids #
# of haplotypeids
 haplotypeids annotation impact hgvs_c hgvs_p genename geneid featuretype featureid genebody_biotype rank cdna
cdna pos length
 cds
cds pos length
 aa
aa pos length
 distance status chr pos
chr16:56485018 G
G
 A
A
 1 a0001c0001t0001g0169
a0001c0001t0001g0169
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.2060-151C>T
c.2060-151C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 16/16 chr16 56485018
chr16:56485105 T
T
 C
C
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.2060-238A>G
c.2060-238A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 16/16 chr16 56485105
chr16:56485185 A
A
 G
G
 76 a0001c0001t0001g0229
a0002c0002t0001g0003
a0002c0002t0001g0006
others(73): Show 
a0001c0001t0001g0229
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 109 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(106): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2060-318T>C
c.2060-318T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 16/16 chr16 56485185
chr16:56485216 T
T
 G
G
 1 a0001c0001t0001g0130
a0001c0001t0001g0130
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.2060-349A>C
c.2060-349A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 16/16 chr16 56485216
chr16:56485511 T
T
 C
C
 61 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
others(58): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0006g0129
a0001c0006t0001g0128
 87 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(84): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
NA18747.hp1
NA18906.hp1
NA18942.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19067.hp2
NA19076.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.2059+79A>G
c.2059+79A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 16/16 chr16 56485511
chr16:56485552 T
T
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.2059+38A>G
c.2059+38A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 16/16 chr16 56485552
chr16:56485891 C
C
 T
T
 1 a0004c0004t0002g0067
a0004c0004t0002g0067
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.1911-153G>A
c.1911-153G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56485891
chr16:56486102 T
T
 C
C
 29 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0013
others(26): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
 48 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(45): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp1
HG02523.hp2
HG02698.hp1
HG02723.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG03942.hp1
NA18747.hp1
NA18906.hp1
NA18947.hp2
NA18955.hp2
NA18960.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19076.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.1911-364A>G
c.1911-364A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486102
chr16:56486490 C
C
 A
A
 4 a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
others(1): Show 
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
 4 HG02895.hp2
HG06807.hp2
NA18906.hp2
others(1): Show 
HG02895.hp2
HG06807.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1911-752G>T
c.1911-752G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486490
chr16:56486564 A
A
 G
G
 1 a0002c0002t0002g0062
a0002c0002t0002g0062
 1 HG01978.hp1
HG01978.hp1
 intron_variant MODIFIER c.1911-826T>C
c.1911-826T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486564
chr16:56486621 T
T
 A
A
 75 a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
others(72): Show 
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 108 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(105): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-883A>T
c.1911-883A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486621
chr16:56486748 C
C
 CT
CT
 10 a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0138
others(7): Show 
a0001c0001t0001g0033
a0001c0001t0001g0093
a0001c0001t0001g0138
a0001c0001t0001g0143
a0001c0001t0001g0168
a0001c0001t0001g0173
a0001c0001t0001g0222
a0002c0002t0001g0109
a0002c0002t0001g0115
a0002c0002t0001g0250
 11 HG00673.hp1
HG01934.hp1
HG01952.hp1
others(8): Show 
HG00673.hp1
HG01934.hp1
HG01952.hp1
HG02148.hp1
HG02559.hp2
HG02738.hp2
HG03130.hp2
HG04115.hp2
HG06807.hp1
NA18966.hp1
NA18977.hp2
 intron_variant MODIFIER c.1911-1011dupA
c.1911-1011dupA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486748
chr16:56486748 CT
CT
 C
C
 27 a0001c0001t0001g0031
a0001c0001t0001g0090
a0001c0001t0001g0137
others(24): Show 
a0001c0001t0001g0031
a0001c0001t0001g0090
a0001c0001t0001g0137
a0001c0001t0001g0141
a0001c0001t0001g0152
a0001c0001t0001g0156
a0001c0001t0001g0159
a0001c0001t0001g0189
a0001c0001t0001g0197
a0001c0001t0001g0202
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0001g0070
a0002c0002t0001g0116
a0002c0002t0001g0162
a0002c0002t0001g0164
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0249
a0002c0002t0001g0266
a0005c0012t0004g0160
 28 HG01358.hp1
HG01496.hp2
HG01975.hp2
others(25): Show 
HG01358.hp1
HG01496.hp2
HG01975.hp2
HG02109.hp1
HG02451.hp2
HG02572.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02809.hp2
HG02895.hp2
HG02965.hp2
HG03098.hp1
HG03098.hp2
HG03453.hp2
HG06807.hp2
NA18747.hp1
NA18906.hp2
NA18959.hp1
NA18961.hp1
NA18962.hp2
NA18969.hp1
NA18980.hp2
NA18982.hp2
NA18988.hp2
NA19058.hp2
NA19240.hp1
NA20300.hp2
 intron_variant MODIFIER c.1911-1011delA
c.1911-1011delA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486748
chr16:56486748 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0002c0002t0002g0042
a0002c0002t0002g0042
 1 HG03831.hp2
HG03831.hp2
 intron_variant MODIFIER c.1911-1020_1911-101
others(14): Show 
c.1911-1020_1911-1011delAAAAAAAAAA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486748
chr16:56486867 A
A
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.1911-1129T>G
c.1911-1129T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486867
chr16:56486962 C
C
 G
G
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1911-1224G>C
c.1911-1224G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486962
chr16:56486987 C
C
 T
T
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.1911-1249G>A
c.1911-1249G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56486987
chr16:56487010 C
C
 T
T
 1 a0001c0001t0001g0148
a0001c0001t0001g0148
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1911-1272G>A
c.1911-1272G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487010
chr16:56487445 A
A
 G
G
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.1911-1707T>C
c.1911-1707T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487445
chr16:56487496 C
C
 T
T
 3 a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0253
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0253
 3 HG00735.hp1
HG01167.hp1
homoSapiens_chm13v2.hp1
HG00735.hp1
HG01167.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-1758G>A
c.1911-1758G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487496
chr16:56487567 G
G
 A
A
 1 a0002c0002t0001g0231
a0002c0002t0001g0231
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.1911-1829C>T
c.1911-1829C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487567
chr16:56487609 A
A
 G
G
 42 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(39): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 47 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(44): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1911-1871T>C
c.1911-1871T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487609
chr16:56487730 C
C
 G
G
 30 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(27): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 33 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(30): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1911-1992G>C
c.1911-1992G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487730
chr16:56487760 T
T
 C
C
 3 a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0253
a0002c0002t0001g0241
a0002c0002t0001g0244
a0002c0002t0001g0253
 3 HG00735.hp1
HG01167.hp1
homoSapiens_chm13v2.hp1
HG00735.hp1
HG01167.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-2022A>G
c.1911-2022A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487760
chr16:56487911 G
G
 A
A
 1 a0002c0002t0002g0047
a0002c0002t0002g0047
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.1911-2173C>T
c.1911-2173C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487911
chr16:56487974 T
T
 C
C
 3 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
 3 HG02622.hp2
HG02717.hp1
HG03098.hp1
HG02622.hp2
HG02717.hp1
HG03098.hp1
 intron_variant MODIFIER c.1911-2236A>G
c.1911-2236A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487974
chr16:56487984 T
T
 C
C
 2 a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0089
a0001c0001t0001g0090
 2 NA18612.hp1
NA18982.hp2
NA18612.hp1
NA18982.hp2
 intron_variant MODIFIER c.1911-2246A>G
c.1911-2246A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487984
chr16:56487995 C
C
 G
G
 42 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(39): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 47 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(44): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1911-2257G>C
c.1911-2257G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56487995
chr16:56488043 G
G
 A
A
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1911-2305C>T
c.1911-2305C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488043
chr16:56488053 A
A
 G
G
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.1911-2315T>C
c.1911-2315T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488053
chr16:56488256 C
C
 T
T
 1 a0002c0002t0001g0248
a0002c0002t0001g0248
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.1911-2518G>A
c.1911-2518G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488256
chr16:56488296 C
C
 G
G
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.1911-2558G>C
c.1911-2558G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488296
chr16:56488388 T
T
 C
C
 1 a0001c0006t0001g0128
a0001c0006t0001g0128
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.1911-2650A>G
c.1911-2650A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488388
chr16:56488398 A
A
 AT
AT
 75 a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
others(72): Show 
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 108 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(105): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-2661dupA
c.1911-2661dupA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488398
chr16:56488402 C
C
 T
T
 1 a0002c0002t0002g0041
a0002c0002t0002g0041
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.1911-2664G>A
c.1911-2664G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488402
chr16:56488531 T
T
 C
C
 2 a0001c0001t0001g0080
a0001c0001t0001g0213
a0001c0001t0001g0080
a0001c0001t0001g0213
 2 HG00140.hp2
NA20905.hp2
HG00140.hp2
NA20905.hp2
 intron_variant MODIFIER c.1911-2793A>G
c.1911-2793A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488531
chr16:56488540 C
C
 T
T
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.1911-2802G>A
c.1911-2802G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488540
chr16:56488603 G
G
 A
A
 2 a0001c0001t0001g0076
a0001c0001t0001g0155
a0001c0001t0001g0076
a0001c0001t0001g0155
 2 HG02976.hp2
HG03486.hp1
HG02976.hp2
HG03486.hp1
 intron_variant MODIFIER c.1911-2865C>T
c.1911-2865C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488603
chr16:56488773 C
C
 G
G
 2 a0003c0003t0003g0037
a0003c0003t0003g0278
a0003c0003t0003g0037
a0003c0003t0003g0278
 3 HG02258.hp1
NA18522.hp2
NA19030.hp1
HG02258.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1911-3035G>C
c.1911-3035G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488773
chr16:56488779 C
C
 T
T
 1 a0001c0001t0001g0171
a0001c0001t0001g0171
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1911-3041G>A
c.1911-3041G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488779
chr16:56488829 T
T
 C
C
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.1911-3091A>G
c.1911-3091A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488829
chr16:56488834 C
C
 A
A
 4 a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
others(1): Show 
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
 4 HG02895.hp2
HG06807.hp2
NA18906.hp2
others(1): Show 
HG02895.hp2
HG06807.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.1911-3096G>T
c.1911-3096G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488834
chr16:56488899 G
G
 C
C
 1 a0004c0004t0002g0063
a0004c0004t0002g0063
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1911-3161C>G
c.1911-3161C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488899
chr16:56488931 G
G
 C
C
 41 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(38): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 46 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(43): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1911-3193C>G
c.1911-3193C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488931
chr16:56488931 G
G
 T
T
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1911-3193C>A
c.1911-3193C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56488931
chr16:56489087 T
T
 TA
TA
 23 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(20): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
 26 HG00673.hp2
HG00741.hp1
HG01978.hp1
others(23): Show 
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03831.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19086.hp1
 intron_variant MODIFIER c.1911-3350dupT
c.1911-3350dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489087
chr16:56489152 A
A
 C
C
 1 a0002c0002t0001g0108
a0002c0002t0001g0108
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.1911-3414T>G
c.1911-3414T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489152
chr16:56489182 T
T
 TA
TA
 4 a0001c0001t0001g0031
a0001c0001t0001g0158
a0001c0001t0001g0159
others(1): Show 
a0001c0001t0001g0031
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0197
 5 HG02559.hp1
HG02572.hp2
HG02809.hp1
others(2): Show 
HG02559.hp1
HG02572.hp2
HG02809.hp1
HG03098.hp2
NA19240.hp1
 intron_variant MODIFIER c.1911-3445dupT
c.1911-3445dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489182
chr16:56489355 T
T
 A
A
 2 a0003c0003t0003g0037
a0003c0003t0003g0278
a0003c0003t0003g0037
a0003c0003t0003g0278
 3 HG02258.hp1
NA18522.hp2
NA19030.hp1
HG02258.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1911-3617A>T
c.1911-3617A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489355
chr16:56489449 G
G
 A
A
 2 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0003g0280
a0001c0001t0003g0281
 2 HG02622.hp2
HG03098.hp1
HG02622.hp2
HG03098.hp1
 intron_variant MODIFIER c.1911-3711C>T
c.1911-3711C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489449
chr16:56489504 A
A
 T
T
 1 a0001c0001t0001g0176
a0001c0001t0001g0176
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.1911-3766T>A
c.1911-3766T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489504
chr16:56489614 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.1911-3876A>G
c.1911-3876A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489614
chr16:56489693 G
G
 A
A
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1911-3955C>T
c.1911-3955C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489693
chr16:56489780 A
A
 C
C
 2 a0001c0001t0001g0013
a0001c0001t0001g0157
a0001c0001t0001g0013
a0001c0001t0001g0157
 4 HG01109.hp2
HG01928.hp2
NA18967.hp1
others(1): Show 
HG01109.hp2
HG01928.hp2
NA18967.hp1
NA18980.hp1
 intron_variant MODIFIER c.1911-4042T>G
c.1911-4042T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489780
chr16:56489804 GA
GA
 G
G
 36 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(33): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0197
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0002g0043
 56 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(53): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG03017.hp2
HG03098.hp2
HG03225.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.1911-4067delT
c.1911-4067delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489804
chr16:56489997 GTCC
GTCC
 G
G
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4262_1911-426
others(7): Show 
c.1911-4262_1911-4260delGGA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56489997
chr16:56490002 A
A
 T
T
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4264T>A
c.1911-4264T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490002
chr16:56490006 A
A
 G
G
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4268T>C
c.1911-4268T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490006
chr16:56490007 C
C
 G
G
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4269G>C
c.1911-4269G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490007
chr16:56490008 T
T
 A
A
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4270A>T
c.1911-4270A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490008
chr16:56490009 C
C
 G
G
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4271G>C
c.1911-4271G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490009
chr16:56490010 C
C
 T
T
 13 a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
others(10): Show 
a0002c0002t0001g0003
a0002c0002t0001g0247
a0002c0002t0001g0252
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 24 HG00438.hp2
HG01074.hp2
HG02027.hp1
others(21): Show 
HG00438.hp2
HG01074.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
HG03041.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.1911-4272G>A
c.1911-4272G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490010
chr16:56490078 C
C
 T
T
 1 a0002c0002t0001g0242
a0002c0002t0001g0242
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.1911-4340G>A
c.1911-4340G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490078
chr16:56490128 G
G
 GCA
GCA
 31 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(28): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0100
a0001c0001t0001g0124
a0001c0001t0001g0148
a0001c0001t0001g0156
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0229
 50 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(47): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01884.hp1
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp2
HG02280.hp1
HG02451.hp2
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02965.hp1
HG03017.hp2
HG03225.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.1911-4392_1911-439
others(6): Show 
c.1911-4392_1911-4391dupTG
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490128
chr16:56490128 GCA
GCA
 G
G
 115 a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
others(112): Show 
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 153 HG00423.hp1
HG00438.hp2
HG00558.hp2
others(150): Show 
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-4392_1911-439
others(6): Show 
c.1911-4392_1911-4391delTG
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490128
chr16:56490151 A
A
 C
C
 39 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(36): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0197
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0225
a0001c0001t0002g0043
 59 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(56): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01258.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG03017.hp2
HG03098.hp2
HG03225.hp1
HG03579.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.1911-4413T>G
c.1911-4413T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490151
chr16:56490153 A
A
 C
C
 2 a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0081
a0001c0001t0001g0082
 2 HG02109.hp2
HG02886.hp2
HG02109.hp2
HG02886.hp2
 intron_variant MODIFIER c.1911-4415T>G
c.1911-4415T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490153
chr16:56490735 C
C
 T
T
 1 a0001c0001t0001g0148
a0001c0001t0001g0148
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1911-4997G>A
c.1911-4997G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490735
chr16:56490767 A
A
 AT
AT
 29 a0001c0001t0001g0008
a0001c0001t0001g0072
a0001c0001t0001g0101
others(26): Show 
a0001c0001t0001g0008
a0001c0001t0001g0072
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0002c0002t0001g0270
 34 HG01358.hp1
HG01496.hp2
HG02056.hp2
others(31): Show 
HG01358.hp1
HG01496.hp2
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp2
HG02622.hp2
HG02630.hp2
HG02735.hp2
HG02738.hp1
HG02886.hp1
HG02895.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03491.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
NA18942.hp2
NA18946.hp2
NA18949.hp1
NA18961.hp2
NA18966.hp1
NA18985.hp2
NA19000.hp1
NA19003.hp2
NA19067.hp2
 intron_variant MODIFIER c.1911-5030dupA
c.1911-5030dupA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490767
chr16:56490848 G
G
 A
A
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1911-5110C>T
c.1911-5110C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490848
chr16:56490854 C
C
 T
T
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.1911-5116G>A
c.1911-5116G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490854
chr16:56490865 C
C
 T
T
 1 a0004c0004t0002g0066
a0004c0004t0002g0066
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.1911-5127G>A
c.1911-5127G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490865
chr16:56490911 G
G
 A
A
 4 a0002c0002t0002g0053
a0002c0002t0002g0055
a0002c0002t0002g0060
others(1): Show 
a0002c0002t0002g0053
a0002c0002t0002g0055
a0002c0002t0002g0060
a0002c0002t0002g0062
 4 HG01978.hp1
NA18964.hp1
NA18994.hp2
others(1): Show 
HG01978.hp1
NA18964.hp1
NA18994.hp2
NA19086.hp1
 intron_variant MODIFIER c.1911-5173C>T
c.1911-5173C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490911
chr16:56490976 C
C
 T
T
 218 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(215): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-5238G>A
c.1911-5238G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56490976
chr16:56491050 C
C
 T
T
 2 a0003c0003t0003g0037
a0003c0003t0003g0278
a0003c0003t0003g0037
a0003c0003t0003g0278
 3 HG02258.hp1
NA18522.hp2
NA19030.hp1
HG02258.hp1
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1911-5312G>A
c.1911-5312G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491050
chr16:56491119 G
G
 A
A
 1 a0003c0003t0003g0274
a0003c0003t0003g0274
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.1911-5381C>T
c.1911-5381C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491119
chr16:56491148 G
G
 A
A
 118 a0001c0001t0001g0229
a0001c0001t0003g0280
a0001c0001t0003g0281
others(115): Show 
a0001c0001t0001g0229
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 156 HG00423.hp1
HG00438.hp2
HG00558.hp2
others(153): Show 
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1911-5410C>T
c.1911-5410C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491148
chr16:56491154 G
G
 A
A
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1911-5416C>T
c.1911-5416C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491154
chr16:56491188 G
G
 A
A
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1911-5450C>T
c.1911-5450C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491188
chr16:56491373 T
T
 C
C
 1 a0001c0001t0001g0079
a0001c0001t0001g0079
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.1910+5594A>G
c.1910+5594A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491373
chr16:56491480 C
C
 T
T
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.1910+5487G>A
c.1910+5487G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491480
chr16:56491675 T
T
 C
C
 41 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(38): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 46 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(43): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1910+5292A>G
c.1910+5292A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491675
chr16:56491697 A
A
 G
G
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1910+5270T>C
c.1910+5270T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491697
chr16:56491725 C
C
 CA
CA
 88 a0001c0001t0001g0091
a0001c0001t0001g0096
a0001c0001t0001g0125
others(85): Show 
a0001c0001t0001g0091
a0001c0001t0001g0096
a0001c0001t0001g0125
a0001c0001t0001g0136
a0001c0001t0001g0139
a0001c0001t0001g0153
a0001c0001t0001g0159
a0001c0001t0001g0174
a0001c0001t0001g0177
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0185
a0001c0001t0001g0193
a0001c0001t0001g0198
a0001c0001t0001g0216
a0001c0001t0002g0043
a0001c0005t0001g0183
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0002g0045
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0273
a0003c0003t0003g0276
a0005c0012t0004g0160
 121 HG00280.hp1
HG00438.hp2
HG00609.hp2
others(118): Show 
HG00280.hp1
HG00438.hp2
HG00609.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02056.hp2
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18971.hp1
NA18975.hp2
NA18977.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19000.hp2
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19006.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19067.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp2
NA19085.hp1
NA19086.hp2
NA19087.hp1
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+5241dupT
c.1910+5241dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491725
chr16:56491725 C
C
 CAA
CAA
 6 a0002c0002t0001g0113
a0002c0002t0001g0250
a0002c0002t0001g0251
others(3): Show 
a0002c0002t0001g0113
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0254
a0002c0002t0001g0271
a0002c0002t0004g0107
 6 HG00642.hp1
HG02080.hp1
HG04115.hp2
others(3): Show 
HG00642.hp1
HG02080.hp1
HG04115.hp2
NA18967.hp2
NA18978.hp1
NA19087.hp2
 intron_variant MODIFIER c.1910+5240_1910+524
others(6): Show 
c.1910+5240_1910+5241dupTT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491725
chr16:56491725 CA
CA
 C
C
 5 a0001c0001t0001g0152
a0001c0001t0003g0280
a0001c0001t0003g0281
others(2): Show 
a0001c0001t0001g0152
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0003c0003t0003g0037
 6 HG02258.hp1
HG02622.hp2
HG02717.hp1
others(3): Show 
HG02258.hp1
HG02622.hp2
HG02717.hp1
HG03098.hp1
NA18522.hp2
NA18747.hp1
 intron_variant MODIFIER c.1910+5241delT
c.1910+5241delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491725
chr16:56491725 CAAA
CAAA
 C
C
 28 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(25): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 31 HG00423.hp1
HG00673.hp2
HG01978.hp1
others(28): Show 
HG00423.hp1
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1910+5239_1910+524
others(7): Show 
c.1910+5239_1910+5241delTTT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491725
chr16:56491828 T
T
 A
A
 1 a0001c0001t0001g0074
a0001c0001t0001g0074
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.1910+5139A>T
c.1910+5139A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491828
chr16:56491844 A
A
 G
G
 3 a0001c0001t0001g0017
a0001c0001t0001g0184
a0001c0001t0001g0226
a0001c0001t0001g0017
a0001c0001t0001g0184
a0001c0001t0001g0226
 5 NA18939.hp1
NA18940.hp1
NA19002.hp1
others(2): Show 
NA18939.hp1
NA18940.hp1
NA19002.hp1
NA19012.hp1
NA19056.hp1
 intron_variant MODIFIER c.1910+5123T>C
c.1910+5123T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56491844
chr16:56492038 A
A
 AAATTTTT
others(30): Show 
AAATTTTTAATGATTAAATATTAAAAATTTAAATTTTT
 1 a0002c0002t0001g0265
a0002c0002t0001g0265
 1 NA19086.hp2
NA19086.hp2
 intron_variant MODIFIER c.1910+4892_1910+492
others(41): Show 
c.1910+4892_1910+4928dupAAAAATTTAAATTTTTAATATTTAAT
CATTAAAAATT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492038
chr16:56492157 C
C
 T
T
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.1910+4810G>A
c.1910+4810G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492157
chr16:56492462 C
C
 T
T
 3 a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0275
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0275
 3 HG02280.hp2
HG03486.hp2
HG03516.hp2
HG02280.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.1910+4505G>A
c.1910+4505G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492462
chr16:56492510 G
G
 A
A
 1 a0002c0002t0001g0263
a0002c0002t0001g0263
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.1910+4457C>T
c.1910+4457C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492510
chr16:56492569 G
G
 A
A
 22 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(19): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
 25 HG00673.hp2
HG01978.hp1
HG02083.hp2
others(22): Show 
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03831.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19086.hp1
 intron_variant MODIFIER c.1910+4398C>T
c.1910+4398C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492569
chr16:56492779 G
G
 A
A
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1910+4188C>T
c.1910+4188C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492779
chr16:56492956 A
A
 G
G
 219 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(216): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0178
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 303 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(300): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+4011T>C
c.1910+4011T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492956
chr16:56492957 A
A
 C
C
 219 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(216): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0178
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 303 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(300): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+4010T>G
c.1910+4010T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492957
chr16:56492962 A
A
 G
G
 219 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(216): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0178
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 303 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(300): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+4005T>C
c.1910+4005T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56492962
chr16:56493208 G
G
 A
A
 1 a0001c0001t0001g0215
a0001c0001t0001g0215
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.1910+3759C>T
c.1910+3759C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493208
chr16:56493244 G
G
 A
A
 2 a0001c0001t0001g0022
a0001c0001t0001g0094
a0001c0001t0001g0022
a0001c0001t0001g0094
 3 HG02280.hp1
HG02572.hp1
HG03225.hp1
HG02280.hp1
HG02572.hp1
HG03225.hp1
 intron_variant MODIFIER c.1910+3723C>T
c.1910+3723C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493244
chr16:56493271 A
A
 C
C
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1910+3696T>G
c.1910+3696T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493271
chr16:56493317 T
T
 C
C
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1910+3650A>G
c.1910+3650A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493317
chr16:56493383 C
C
 CA
CA
 65 a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0029
others(62): Show 
a0001c0001t0001g0015
a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0035
a0001c0001t0001g0087
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0103
a0001c0001t0001g0119
a0001c0001t0001g0136
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0143
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0170
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0185
a0001c0001t0001g0188
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0215
a0001c0001t0001g0220
a0001c0005t0001g0183
a0002c0002t0001g0111
a0002c0002t0001g0117
a0002c0002t0001g0163
a0002c0002t0001g0234
a0002c0002t0001g0236
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0252
a0002c0002t0001g0254
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0267
a0002c0002t0001g0270
a0002c0002t0002g0041
a0002c0002t0002g0044
a0002c0002t0002g0049
a0002c0002t0002g0052
a0002c0002t0002g0054
a0002c0002t0002g0059
a0002c0002t0002g0061
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0004c0004t0002g0066
 71 HG00423.hp1
HG00621.hp1
HG00621.hp2
others(68): Show 
HG00423.hp1
HG00621.hp1
HG00621.hp2
HG00733.hp2
HG00735.hp1
HG01106.hp1
HG01106.hp2
HG01255.hp1
HG01358.hp1
HG01433.hp1
HG01516.hp2
HG01928.hp1
HG01981.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02083.hp1
HG02135.hp2
HG02145.hp2
HG02572.hp1
HG02602.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG03041.hp2
HG03225.hp2
HG03486.hp1
HG03516.hp1
HG03579.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04204.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp2
NA18978.hp1
NA18979.hp2
NA18987.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp1
NA18992.hp1
NA18994.hp1
NA19000.hp1
NA19000.hp2
NA19011.hp2
NA19058.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19076.hp1
NA19079.hp1
NA19082.hp1
NA19082.hp2
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19240.hp1
 intron_variant MODIFIER c.1910+3583dupT
c.1910+3583dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493383
chr16:56493383 CA
CA
 C
C
 9 a0001c0001t0001g0098
a0001c0001t0001g0134
a0001c0001t0001g0175
others(6): Show 
a0001c0001t0001g0098
a0001c0001t0001g0134
a0001c0001t0001g0175
a0001c0001t0001g0228
a0001c0006t0001g0128
a0002c0002t0001g0230
a0002c0002t0001g0245
a0002c0002t0001g0256
a0002c0002t0001g0263
 9 HG01074.hp1
HG01515.hp2
NA18946.hp2
others(6): Show 
HG01074.hp1
HG01515.hp2
NA18946.hp2
NA18949.hp1
NA18959.hp2
NA18961.hp1
NA18986.hp2
NA18991.hp2
NA19057.hp2
 intron_variant MODIFIER c.1910+3583delT
c.1910+3583delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493383
chr16:56493383 CAAAAAA
CAAAAAA
 C
C
 9 a0001c0001t0003g0280
a0001c0007t0003g0279
a0003c0003t0003g0037
others(6): Show 
a0001c0001t0003g0280
a0001c0007t0003g0279
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0276
a0003c0003t0003g0277
 11 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(8): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
NA18522.hp2
 intron_variant MODIFIER c.1910+3578_1910+358
others(10): Show 
c.1910+3578_1910+3583delTTTTTT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493383
chr16:56493479 A
A
 G
G
 1 a0002c0002t0001g0070
a0002c0002t0001g0070
 1 NA18988.hp2
NA18988.hp2
 intron_variant MODIFIER c.1910+3488T>C
c.1910+3488T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493479
chr16:56493643 G
G
 C
C
 2 a0001c0001t0001g0022
a0001c0001t0001g0094
a0001c0001t0001g0022
a0001c0001t0001g0094
 3 HG02280.hp1
HG02572.hp1
HG03225.hp1
HG02280.hp1
HG02572.hp1
HG03225.hp1
 intron_variant MODIFIER c.1910+3324C>G
c.1910+3324C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493643
chr16:56493805 A
A
 G
G
 26 a0002c0002t0001g0006
a0002c0002t0001g0024
a0002c0002t0001g0026
others(23): Show 
a0002c0002t0001g0006
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0011t0004g0121
a0005c0012t0004g0160
 36 HG00609.hp2
HG01346.hp2
HG01433.hp1
others(33): Show 
HG00609.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp2
HG02080.hp1
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02965.hp2
NA18612.hp2
NA18941.hp2
NA18944.hp1
NA18950.hp2
NA18959.hp1
NA18962.hp1
NA18977.hp1
NA18987.hp2
NA18988.hp2
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19010.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19087.hp2
NA20129.hp1
 intron_variant MODIFIER c.1910+3162T>C
c.1910+3162T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493805
chr16:56493836 C
C
 A
A
 1 a0002c0002t0001g0268
a0002c0002t0001g0268
 1 NA18942.hp1
NA18942.hp1
 intron_variant MODIFIER c.1910+3131G>T
c.1910+3131G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493836
chr16:56493930 T
T
 C
C
 9 a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
others(6): Show 
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 11 HG02258.hp1
HG02280.hp2
HG02717.hp2
others(8): Show 
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1910+3037A>G
c.1910+3037A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493930
chr16:56493981 G
G
 A
A
 2 a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0223
a0001c0001t0001g0224
 2 HG00408.hp2
NA18999.hp2
HG00408.hp2
NA18999.hp2
 intron_variant MODIFIER c.1910+2986C>T
c.1910+2986C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56493981
chr16:56494125 A
A
 AT
AT
 48 a0001c0001t0001g0009
a0001c0001t0001g0029
a0001c0001t0001g0074
others(45): Show 
a0001c0001t0001g0009
a0001c0001t0001g0029
a0001c0001t0001g0074
a0001c0001t0001g0085
a0001c0001t0001g0088
a0001c0001t0001g0097
a0001c0001t0001g0101
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0146
a0001c0001t0001g0168
a0001c0001t0001g0172
a0001c0001t0001g0174
a0001c0001t0001g0185
a0001c0001t0001g0200
a0001c0001t0001g0205
a0001c0001t0001g0209
a0001c0001t0001g0211
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0229
a0001c0007t0003g0279
a0001c0009t0001g0227
a0002c0002t0001g0024
a0002c0002t0001g0104
a0002c0002t0001g0115
a0002c0002t0001g0161
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0261
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0044
a0002c0002t0002g0057
a0002c0002t0004g0106
a0002c0002t0004g0107
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 56 HG00544.hp2
HG00621.hp2
HG00735.hp1
others(53): Show 
HG00544.hp2
HG00621.hp2
HG00735.hp1
HG01256.hp1
HG01346.hp2
HG01928.hp1
HG01978.hp2
HG01981.hp1
HG02004.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02109.hp1
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03579.hp1
HG04184.hp1
HG04199.hp1
NA18522.hp2
NA18949.hp1
NA18953.hp1
NA18953.hp2
NA18955.hp2
NA18967.hp2
NA18968.hp2
NA18978.hp2
NA18982.hp1
NA18989.hp1
NA18990.hp1
NA18994.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp2
NA19012.hp2
NA19030.hp1
NA19062.hp1
NA19079.hp2
NA19087.hp2
NA19091.hp2
NA20905.hp1
 intron_variant MODIFIER c.1910+2841dupA
c.1910+2841dupA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494125
chr16:56494125 A
A
 ATT
ATT
 10 a0001c0001t0001g0151
a0001c0001t0003g0280
a0001c0001t0003g0281
others(7): Show 
a0001c0001t0001g0151
a0001c0001t0003g0280
a0001c0001t0003g0281
a0002c0002t0002g0046
a0003c0003t0003g0275
a0004c0004t0002g0039
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0005g0065
 10 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(7): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG02622.hp2
HG03098.hp1
HG03516.hp2
HG03688.hp1
NA18989.hp2
NA19030.hp2
NA19084.hp1
 intron_variant MODIFIER c.1910+2840_1910+284
others(6): Show 
c.1910+2840_1910+2841dupAA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494125
chr16:56494257 C
C
 T
T
 119 a0001c0001t0001g0216
a0001c0001t0001g0229
a0001c0001t0003g0280
others(116): Show 
a0001c0001t0001g0216
a0001c0001t0001g0229
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 157 HG00423.hp1
HG00438.hp2
HG00558.hp2
others(154): Show 
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+2710G>A
c.1910+2710G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494257
chr16:56494258 G
G
 A
A
 2 a0001c0001t0001g0016
a0001c0001t0001g0180
a0001c0001t0001g0016
a0001c0001t0001g0180
 4 HG01123.hp2
HG01168.hp2
HG01169.hp1
others(1): Show 
HG01123.hp2
HG01168.hp2
HG01169.hp1
HG01255.hp2
 intron_variant MODIFIER c.1910+2709C>T
c.1910+2709C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494258
chr16:56494285 A
A
 G
G
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.1910+2682T>C
c.1910+2682T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494285
chr16:56494286 T
T
 A
A
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.1910+2681A>T
c.1910+2681A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494286
chr16:56494286 T
T
 C
C
 1 a0002c0002t0001g0241
a0002c0002t0001g0241
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+2681A>G
c.1910+2681A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494286
chr16:56494324 C
C
 T
T
 1 a0001c0001t0001g0148
a0001c0001t0001g0148
 1 HG02965.hp1
HG02965.hp1
 intron_variant MODIFIER c.1910+2643G>A
c.1910+2643G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494324
chr16:56494361 C
C
 G
G
 1 a0001c0001t0001g0133
a0001c0001t0001g0133
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1910+2606G>C
c.1910+2606G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494361
chr16:56494385 A
A
 T
T
 118 a0001c0001t0001g0229
a0001c0001t0003g0280
a0001c0001t0003g0281
others(115): Show 
a0001c0001t0001g0229
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 156 HG00423.hp1
HG00438.hp2
HG00558.hp2
others(153): Show 
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+2582T>A
c.1910+2582T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494385
chr16:56494506 G
G
 A
A
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1910+2461C>T
c.1910+2461C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494506
chr16:56494662 G
G
 A
A
 2 a0002c0002t0001g0232
a0002c0002t0001g0235
a0002c0002t0001g0232
a0002c0002t0001g0235
 2 HG06807.hp2
NA20300.hp2
HG06807.hp2
NA20300.hp2
 intron_variant MODIFIER c.1910+2305C>T
c.1910+2305C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494662
chr16:56494684 C
C
 T
T
 4 a0001c0001t0001g0031
a0001c0001t0001g0158
a0001c0001t0001g0159
others(1): Show 
a0001c0001t0001g0031
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0197
 5 HG02559.hp1
HG02572.hp2
HG02809.hp1
others(2): Show 
HG02559.hp1
HG02572.hp2
HG02809.hp1
HG03098.hp2
NA19240.hp1
 intron_variant MODIFIER c.1910+2283G>A
c.1910+2283G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494684
chr16:56494691 A
A
 G
G
 42 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(39): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 47 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(44): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1910+2276T>C
c.1910+2276T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494691
chr16:56494759 G
G
 A
A
 1 a0001c0001t0001g0208
a0001c0001t0001g0208
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.1910+2208C>T
c.1910+2208C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494759
chr16:56494831 G
G
 A
A
 1 a0002c0002t0002g0056
a0002c0002t0002g0056
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.1910+2136C>T
c.1910+2136C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494831
chr16:56494834 C
C
 T
T
 1 a0001c0007t0003g0279
a0001c0007t0003g0279
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.1910+2133G>A
c.1910+2133G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494834
chr16:56494887 G
G
 A
A
 2 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0039
a0004c0004t0002g0040
 2 HG03688.hp1
HG04199.hp2
HG03688.hp1
HG04199.hp2
 intron_variant MODIFIER c.1910+2080C>T
c.1910+2080C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494887
chr16:56494941 G
G
 A
A
 1 a0002c0002t0001g0252
a0002c0002t0001g0252
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.1910+2026C>T
c.1910+2026C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494941
chr16:56494957 G
G
 A
A
 9 a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0035
others(6): Show 
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0035
a0001c0001t0001g0181
a0001c0001t0001g0184
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0226
a0001c0009t0001g0227
 14 HG00544.hp2
HG00621.hp1
HG02135.hp2
others(11): Show 
HG00544.hp2
HG00621.hp1
HG02135.hp2
NA18939.hp1
NA18940.hp1
NA18968.hp1
NA18978.hp2
NA19002.hp1
NA19004.hp2
NA19006.hp1
NA19012.hp1
NA19056.hp1
NA19076.hp2
NA19081.hp1
 intron_variant MODIFIER c.1910+2010C>T
c.1910+2010C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494957
chr16:56494962 G
G
 GA
GA
 30 a0001c0001t0001g0022
a0001c0001t0001g0078
a0001c0001t0001g0079
others(27): Show 
a0001c0001t0001g0022
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0103
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0171
a0001c0001t0001g0182
a0001c0001t0001g0185
a0001c0001t0001g0204
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0005t0001g0183
a0001c0009t0001g0227
a0002c0002t0001g0010
a0002c0002t0001g0111
a0002c0002t0001g0118
a0002c0002t0001g0236
a0002c0002t0001g0241
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0270
a0002c0002t0004g0112
a0003c0003t0003g0278
 34 HG00738.hp1
HG01099.hp2
HG01167.hp1
others(31): Show 
HG00738.hp1
HG01099.hp2
HG01167.hp1
HG01934.hp2
HG02257.hp2
HG02280.hp1
HG02451.hp1
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02723.hp2
HG02738.hp1
HG03195.hp1
HG03225.hp1
HG03516.hp1
HG03579.hp2
HG03688.hp2
HG03831.hp1
NA18522.hp1
NA18944.hp1
NA18961.hp2
NA18966.hp1
NA18978.hp1
NA18978.hp2
NA18987.hp2
NA19000.hp1
NA19000.hp2
NA19030.hp1
NA19043.hp2
NA19067.hp1
NA19075.hp2
NA19079.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+2004dupT
c.1910+2004dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494962
chr16:56494962 GA
GA
 G
G
 10 a0001c0001t0001g0014
a0001c0001t0001g0126
a0001c0001t0001g0150
others(7): Show 
a0001c0001t0001g0014
a0001c0001t0001g0126
a0001c0001t0001g0150
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0187
a0001c0001t0001g0205
a0001c0001t0001g0228
a0002c0002t0001g0238
a0002c0002t0004g0122
 12 HG00423.hp2
HG00621.hp2
HG00673.hp1
others(9): Show 
HG00423.hp2
HG00621.hp2
HG00673.hp1
HG02145.hp1
HG02148.hp2
NA18747.hp2
NA18941.hp2
NA18946.hp1
NA18951.hp1
NA18961.hp1
NA18990.hp1
NA18992.hp2
 intron_variant MODIFIER c.1910+2004delT
c.1910+2004delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56494962
chr16:56495013 T
T
 C
C
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.1910+1954A>G
c.1910+1954A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495013
chr16:56495428 T
T
 C
C
 76 a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
others(73): Show 
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0045
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 109 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(106): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+1539A>G
c.1910+1539A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495428
chr16:56495453 G
G
 T
T
 9 a0001c0001t0001g0005
a0001c0001t0001g0071
a0001c0001t0001g0123
others(6): Show 
a0001c0001t0001g0005
a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0208
a0001c0001t0001g0212
 16 HG00280.hp2
HG00323.hp1
HG00738.hp1
others(13): Show 
HG00280.hp2
HG00323.hp1
HG00738.hp1
HG01106.hp2
HG01192.hp1
HG01346.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG02602.hp1
HG02630.hp1
HG02738.hp2
HG03490.hp2
HG03492.hp2
HG03834.hp2
NA20805.hp2
 intron_variant MODIFIER c.1910+1514C>A
c.1910+1514C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495453
chr16:56495600 T
T
 C
C
 9 a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
others(6): Show 
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 11 HG02258.hp1
HG02280.hp2
HG02717.hp2
others(8): Show 
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1910+1367A>G
c.1910+1367A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495600
chr16:56495766 A
A
 ATG
ATG
 4 a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
others(1): Show 
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0086
 4 HG02055.hp1
HG02109.hp2
HG02886.hp2
others(1): Show 
HG02055.hp1
HG02109.hp2
HG02886.hp2
NA19043.hp1
 intron_variant MODIFIER c.1910+1199_1910+120
others(6): Show 
c.1910+1199_1910+1200dupCA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495766
chr16:56495766 ATG
ATG
 A
A
 97 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(94): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0119
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0006g0129
a0001c0006t0001g0128
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0004g0122
 143 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(140): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00639.hp1
HG00639.hp2
HG00735.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01978.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02145.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04184.hp2
NA18522.hp1
NA18612.hp1
NA18747.hp1
NA18906.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp2
NA18945.hp1
NA18946.hp2
NA18949.hp1
NA18955.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18975.hp1
NA18980.hp1
NA18981.hp1
NA18982.hp1
NA18982.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18989.hp2
NA18992.hp1
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19009.hp1
NA19010.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19067.hp2
NA19076.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
 intron_variant MODIFIER c.1910+1199_1910+120
others(6): Show 
c.1910+1199_1910+1200delCA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495766
chr16:56495766 ATGTG
ATGTG
 A
A
 100 a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
others(97): Show 
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0045
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0011t0004g0121
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 136 HG00423.hp1
HG00438.hp2
HG00558.hp2
others(133): Show 
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+1197_1910+120
others(8): Show 
c.1910+1197_1910+1200delCACA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495766
chr16:56495766 ATGTGTG
ATGTGTG
 A
A
 5 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(2): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0001g0255
a0002c0010t0001g0264
 5 HG01099.hp2
HG02622.hp2
HG02717.hp1
others(2): Show 
HG01099.hp2
HG02622.hp2
HG02717.hp1
HG03098.hp1
NA18960.hp2
 intron_variant MODIFIER c.1910+1195_1910+120
others(10): Show 
c.1910+1195_1910+1200delCACACA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495766
chr16:56495766 ATGTGTGT
others(3): Show 
ATGTGTGTGTG
 A
A
 9 a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
others(6): Show 
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 11 HG02258.hp1
HG02280.hp2
HG02717.hp2
others(8): Show 
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1910+1191_1910+120
others(14): Show 
c.1910+1191_1910+1200delCACACACACA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495766
chr16:56495790 G
G
 A
A
 2 a0001c0001t0001g0093
a0001c0001t0001g0099
a0001c0001t0001g0093
a0001c0001t0001g0099
 2 HG01516.hp1
HG06807.hp1
HG01516.hp1
HG06807.hp1
 intron_variant MODIFIER c.1910+1177C>T
c.1910+1177C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495790
chr16:56495798 A
A
 G
G
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1910+1169T>C
c.1910+1169T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495798
chr16:56495800 G
G
 A
A
 1 a0001c0001t0001g0093
a0001c0001t0001g0093
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.1910+1167C>T
c.1910+1167C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495800
chr16:56495802 A
A
 G
G
 64 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
others(61): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0006g0129
a0001c0006t0001g0128
 90 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(87): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00544.hp1
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
NA18747.hp1
NA18906.hp1
NA18942.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19067.hp2
NA19075.hp2
NA19076.hp1
NA19084.hp2
NA19091.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.1910+1165T>C
c.1910+1165T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495802
chr16:56495922 G
G
 C
C
 1 a0001c0001t0001g0144
a0001c0001t0001g0144
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.1910+1045C>G
c.1910+1045C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56495922
chr16:56496006 T
T
 C
C
 1 a0001c0001t0001g0156
a0001c0001t0001g0156
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1910+961A>G
c.1910+961A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56496006
chr16:56496057 T
T
 G
G
 2 a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0256
a0002c0002t0001g0257
 2 NA18975.hp2
NA18986.hp2
NA18975.hp2
NA18986.hp2
 intron_variant MODIFIER c.1910+910A>C
c.1910+910A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56496057
chr16:56496394 A
A
 G
G
 1 a0002c0002t0002g0048
a0002c0002t0002g0048
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.1910+573T>C
c.1910+573T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56496394
chr16:56496465 A
A
 G
G
 76 a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
others(73): Show 
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0045
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 109 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(106): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1910+502T>C
c.1910+502T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56496465
chr16:56496838 G
G
 A
A
 11 a0001c0001t0003g0280
a0001c0001t0003g0281
a0003c0003t0003g0037
others(8): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 13 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(10): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1910+129C>T
c.1910+129C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56496838
chr16:56496890 G
G
 T
T
 1 a0001c0001t0001g0167
a0001c0001t0001g0167
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.1910+77C>A
c.1910+77C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 15/16 chr16 56496890
chr16:56497191 G
G
 A
A
 1 a0002c0002t0001g0269
a0002c0002t0001g0269
 1 NA19085.hp1
NA19085.hp1
 intron_variant MODIFIER c.1798-112C>T
c.1798-112C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 14/16 chr16 56497191
chr16:56497273 C
C
 G
G
 218 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(215): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1798-194G>C
c.1798-194G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 14/16 chr16 56497273
chr16:56497654 T
T
 C
C
 1 a0002c0002t0002g0054
a0002c0002t0002g0054
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.1797+89A>G
c.1797+89A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 14/16 chr16 56497654
chr16:56497981 C
C
 CAT
CAT
 3 a0001c0001t0001g0084
a0001c0001t0002g0043
a0001c0006t0001g0128
a0001c0001t0001g0084
a0001c0001t0002g0043
a0001c0006t0001g0128
 3 HG02809.hp2
NA18946.hp2
NA18975.hp1
HG02809.hp2
NA18946.hp2
NA18975.hp1
 intron_variant MODIFIER c.1660-103_1660-102d
others(4): Show 
c.1660-103_1660-102dupAT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 13/16 chr16 56497981
chr16:56498027 A
A
 G
G
 1 a0002c0002t0002g0053
a0002c0002t0002g0053
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.1660-147T>C
c.1660-147T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 13/16 chr16 56498027
chr16:56498308 C
C
 G
G
 5 a0001c0001t0001g0022
a0001c0001t0001g0078
a0001c0001t0001g0079
others(2): Show 
a0001c0001t0001g0022
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0083
a0001c0001t0001g0094
 6 HG02257.hp2
HG02280.hp1
HG02572.hp1
others(3): Show 
HG02257.hp2
HG02280.hp1
HG02572.hp1
HG02615.hp1
HG03225.hp1
NA18522.hp1
 intron_variant MODIFIER c.1659+129G>C
c.1659+129G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 13/16 chr16 56498308
chr16:56498434 T
T
 C
C
 12 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(9): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 14 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(11): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 splice_region_variant&intron_variant LOW c.1659+3A>G
c.1659+3A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 13/16 chr16 56498434
chr16:56498805 T
T
 G
G
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.1528-237A>C
c.1528-237A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 12/16 chr16 56498805
chr16:56499047 A
A
 G
G
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.1528-479T>C
c.1528-479T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 12/16 chr16 56499047
chr16:56499662 A
A
 G
G
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.1527+116T>C
c.1527+116T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 12/16 chr16 56499662
chr16:56500028 G
G
 A
A
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1398-121C>T
c.1398-121C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/16 chr16 56500028
chr16:56500300 T
T
 G
G
 42 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(39): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 47 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(44): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1398-393A>C
c.1398-393A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/16 chr16 56500300
chr16:56500624 C
C
 CA
CA
 20 a0001c0001t0001g0094
a0001c0001t0001g0103
a0001c0001t0001g0184
others(17): Show 
a0001c0001t0001g0094
a0001c0001t0001g0103
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0222
a0001c0001t0001g0229
a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0055
a0002c0002t0002g0062
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0004c0004t0002g0063
 23 HG00558.hp2
HG00673.hp2
HG01978.hp1
others(20): Show 
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02109.hp1
HG02280.hp2
HG02572.hp1
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
HG03704.hp2
NA18940.hp1
NA18950.hp1
NA18952.hp2
NA18961.hp2
NA18969.hp2
NA19000.hp2
NA19066.hp2
NA19086.hp1
 intron_variant MODIFIER c.1397+229dupT
c.1397+229dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/16 chr16 56500624
chr16:56500624 CA
CA
 C
C
 8 a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0145
others(5): Show 
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0148
a0001c0001t0001g0200
a0001c0001t0006g0129
a0002c0002t0001g0242
 8 HG00741.hp2
HG02895.hp1
HG02965.hp1
others(5): Show 
HG00741.hp2
HG02895.hp1
HG02965.hp1
HG03041.hp1
HG03704.hp1
NA18953.hp1
NA18968.hp2
NA19076.hp1
 intron_variant MODIFIER c.1397+229delT
c.1397+229delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/16 chr16 56500624
chr16:56500727 T
T
 C
C
 5 a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0047
others(2): Show 
a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
 7 HG00673.hp2
HG03704.hp2
NA18950.hp1
others(4): Show 
HG00673.hp2
HG03704.hp2
NA18950.hp1
NA18952.hp2
NA18969.hp2
NA19066.hp2
NA19075.hp1
 intron_variant MODIFIER c.1397+127A>G
c.1397+127A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/16 chr16 56500727
chr16:56500778 G
G
 T
T
 2 a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0081
a0001c0001t0001g0082
 2 HG02109.hp2
HG02886.hp2
HG02109.hp2
HG02886.hp2
 intron_variant MODIFIER c.1397+76C>A
c.1397+76C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 11/16 chr16 56500778
chr16:56501036 G
G
 A
A
 1 a0002c0002t0001g0113
a0002c0002t0001g0113
 1 HG02080.hp1
HG02080.hp1
 intron_variant MODIFIER c.1226-11C>T
c.1226-11C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/16 chr16 56501036
chr16:56501135 C
C
 G
G
 7 a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
others(4): Show 
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
 7 HG02083.hp2
HG03017.hp1
NA18943.hp2
others(4): Show 
HG02083.hp2
HG03017.hp1
NA18943.hp2
NA18979.hp2
NA18987.hp1
NA19011.hp1
NA19079.hp2
 intron_variant MODIFIER c.1226-110G>C
c.1226-110G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/16 chr16 56501135
chr16:56501147 A
A
 G
G
 38 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(35): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0031
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0197
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0002g0043
 58 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(55): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02523.hp1
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp2
HG03017.hp2
HG03098.hp2
HG03225.hp1
HG03579.hp2
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.1226-122T>C
c.1226-122T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/16 chr16 56501147
chr16:56501281 CA
CA
 C
C
 9 a0001c0001t0001g0073
a0003c0003t0003g0037
a0003c0003t0003g0038
others(6): Show 
a0001c0001t0001g0073
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 11 HG00323.hp2
HG02258.hp1
HG02280.hp2
others(8): Show 
HG00323.hp2
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.1225+71delT
c.1225+71delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/16 chr16 56501281
chr16:56501310 T
T
 C
C
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.1225+43A>G
c.1225+43A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 10/16 chr16 56501310
chr16:56501598 A
A
 G
G
 31 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0013
others(28): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
 50 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(47): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02145.hp1
HG02451.hp2
HG02523.hp2
HG02698.hp1
HG02723.hp1
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03195.hp2
HG03486.hp1
HG03579.hp1
HG03942.hp1
NA18747.hp1
NA18906.hp1
NA18947.hp2
NA18955.hp2
NA18960.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19076.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.1081-101T>C
c.1081-101T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56501598
chr16:56501701 A
A
 C
C
 218 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(215): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1081-204T>G
c.1081-204T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56501701
chr16:56501745 C
C
 T
T
 1 a0004c0004t0002g0063
a0004c0004t0002g0063
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.1081-248G>A
c.1081-248G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56501745
chr16:56501867 A
A
 G
G
 1 a0002c0002t0001g0163
a0002c0002t0001g0163
 1 HG02145.hp2
HG02145.hp2
 intron_variant MODIFIER c.1081-370T>C
c.1081-370T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56501867
chr16:56502003 T
T
 C
C
 1 a0002c0002t0001g0114
a0002c0002t0001g0114
 1 HG00609.hp2
HG00609.hp2
 intron_variant MODIFIER c.1080+314A>G
c.1080+314A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56502003
chr16:56502015 A
A
 G
G
 2 a0002c0002t0001g0258
a0002c0002t0001g0262
a0002c0002t0001g0258
a0002c0002t0001g0262
 2 NA18979.hp1
NA19091.hp1
NA18979.hp1
NA19091.hp1
 intron_variant MODIFIER c.1080+302T>C
c.1080+302T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56502015
chr16:56502109 C
C
 A
A
 2 a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0187
a0001c0001t0001g0188
 2 NA18946.hp1
NA19082.hp2
NA18946.hp1
NA19082.hp2
 intron_variant MODIFIER c.1080+208G>T
c.1080+208G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56502109
chr16:56502168 C
C
 T
T
 40 a0001c0001t0003g0280
a0001c0001t0003g0281
a0002c0002t0002g0011
others(37): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 45 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(42): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.1080+149G>A
c.1080+149G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56502168
chr16:56502303 G
G
 A
A
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.1080+14C>T
c.1080+14C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 9/16 chr16 56502303
chr16:56502516 T
T
 G
G
 1 a0002c0002t0002g0056
a0002c0002t0002g0056
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.941-60A>C
c.941-60A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 8/16 chr16 56502516
chr16:56502573 C
C
 T
T
 1 a0002c0002t0001g0105
a0002c0002t0001g0105
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.940+100G>A
c.940+100G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 8/16 chr16 56502573
chr16:56502577 A
A
 T
T
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.940+96T>A
c.940+96T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 8/16 chr16 56502577
chr16:56502582 G
G
 A
A
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.940+91C>T
c.940+91C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 8/16 chr16 56502582
chr16:56503281 A
A
 G
G
 61 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
others(58): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0006g0129
a0001c0006t0001g0128
 87 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(84): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
NA18747.hp1
NA18906.hp1
NA18942.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19067.hp2
NA19076.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.805-473T>C
c.805-473T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503281
chr16:56503488 C
C
 T
T
 1 a0002c0002t0001g0263
a0002c0002t0001g0263
 1 NA19057.hp2
NA19057.hp2
 intron_variant MODIFIER c.805-680G>A
c.805-680G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503488
chr16:56503590 A
A
 T
T
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.805-782T>A
c.805-782T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503590
chr16:56503598 A
A
 C
C
 4 a0001c0001t0001g0028
a0001c0001t0001g0145
a0001c0001t0001g0146
others(1): Show 
a0001c0001t0001g0028
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
 5 NA18964.hp2
NA18968.hp2
NA19010.hp1
others(2): Show 
NA18964.hp2
NA18968.hp2
NA19010.hp1
NA19057.hp1
NA19076.hp1
 intron_variant MODIFIER c.805-790T>G
c.805-790T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503598
chr16:56503833 C
C
 T
T
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.805-1025G>A
c.805-1025G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503833
chr16:56503834 G
G
 A
A
 1 a0001c0001t0001g0095
a0001c0001t0001g0095
 1 HG01884.hp1
HG01884.hp1
 intron_variant MODIFIER c.805-1026C>T
c.805-1026C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503834
chr16:56503876 G
G
 A
A
 1 a0001c0001t0001g0189
a0001c0001t0001g0189
 1 NA18969.hp1
NA18969.hp1
 intron_variant MODIFIER c.805-1068C>T
c.805-1068C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503876
chr16:56503905 C
C
 A
A
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.805-1097G>T
c.805-1097G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503905
chr16:56503919 C
C
 CA
CA
 61 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
others(58): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0190
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0006g0129
a0001c0006t0001g0128
 87 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(84): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
NA18747.hp1
NA18906.hp1
NA18942.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19067.hp2
NA19091.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.805-1112dupT
c.805-1112dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56503919
chr16:56504128 T
T
 A
A
 1 a0002c0002t0001g0026
a0002c0002t0001g0026
 2 NA19002.hp2
NA19003.hp1
NA19002.hp2
NA19003.hp1
 intron_variant MODIFIER c.805-1320A>T
c.805-1320A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56504128
chr16:56504128 T
T
 C
C
 12 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(9): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 14 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(11): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.805-1320A>G
c.805-1320A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56504128
chr16:56504563 T
T
 C
C
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 HG01258.hp1
HG01258.hp1
 intron_variant MODIFIER c.804+1387A>G
c.804+1387A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56504563
chr16:56504656 A
A
 C
C
 30 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(27): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 33 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(30): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.804+1294T>G
c.804+1294T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56504656
chr16:56504934 G
G
 C
C
 5 a0002c0002t0001g0019
a0002c0002t0001g0230
a0002c0002t0001g0258
others(2): Show 
a0002c0002t0001g0019
a0002c0002t0001g0230
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0262
 7 NA18959.hp2
NA18979.hp1
NA18981.hp2
others(4): Show 
NA18959.hp2
NA18979.hp1
NA18981.hp2
NA18983.hp2
NA19081.hp2
NA19082.hp1
NA19091.hp1
 intron_variant MODIFIER c.804+1016C>G
c.804+1016C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56504934
chr16:56505136 A
A
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.804+814T>C
c.804+814T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505136
chr16:56505531 T
T
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.804+419A>G
c.804+419A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505531
chr16:56505555 ATG
ATG
 A
A
 22 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(19): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
 25 HG00673.hp2
HG01978.hp1
HG02083.hp2
others(22): Show 
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03831.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19086.hp1
 intron_variant MODIFIER c.804+393_804+394del
others(2): Show 
c.804+393_804+394delCA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505555
chr16:56505722 C
C
 T
T
 1 a0001c0001t0001g0217
a0001c0001t0001g0217
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.804+228G>A
c.804+228G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505722
chr16:56505763 C
C
 T
T
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.804+187G>A
c.804+187G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505763
chr16:56505771 G
G
 C
C
 1 a0001c0001t0001g0096
a0001c0001t0001g0096
 1 NA19087.hp1
NA19087.hp1
 intron_variant MODIFIER c.804+179C>G
c.804+179C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505771
chr16:56505899 T
T
 A
A
 1 a0003c0003t0003g0276
a0003c0003t0003g0276
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.804+51A>T
c.804+51A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 7/16 chr16 56505899
chr16:56506070 C
C
 T
T
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.718-34G>A
c.718-34G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 6/16 chr16 56506070
chr16:56506278 G
G
 C
C
 61 a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0013
others(58): Show 
a0001c0001t0001g0004
a0001c0001t0001g0009
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0196
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0002g0043
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 83 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(80): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00639.hp2
HG00673.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01192.hp2
HG01258.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG01978.hp1
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp2
HG02135.hp1
HG02145.hp1
HG02451.hp2
HG02523.hp2
HG02602.hp2
HG02698.hp1
HG02723.hp1
HG02809.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03017.hp1
HG03195.hp2
HG03486.hp1
HG03491.hp2
HG03492.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03942.hp1
HG04199.hp2
HG04204.hp2
NA18747.hp1
NA18906.hp1
NA18943.hp2
NA18947.hp2
NA18950.hp1
NA18952.hp2
NA18955.hp2
NA18960.hp1
NA18964.hp1
NA18964.hp2
NA18967.hp1
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18979.hp2
NA18980.hp1
NA18982.hp1
NA18986.hp1
NA18987.hp1
NA18989.hp1
NA18989.hp2
NA18994.hp2
NA18999.hp2
NA19010.hp1
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19057.hp1
NA19062.hp1
NA19066.hp2
NA19075.hp1
NA19076.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
NA19091.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.613-54C>G
c.613-54C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56506278
chr16:56506509 A
A
 C
C
 1 a0001c0001t0001g0165
a0001c0001t0001g0165
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.613-285T>G
c.613-285T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56506509
chr16:56506943 T
T
 A
A
 1 a0002c0002t0001g0241
a0002c0002t0001g0241
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.613-719A>T
c.613-719A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56506943
chr16:56507021 C
C
 G
G
 1 a0002c0002t0001g0241
a0002c0002t0001g0241
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.613-797G>C
c.613-797G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507021
chr16:56507037 A
A
 G
G
 1 a0002c0002t0001g0241
a0002c0002t0001g0241
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.613-813T>C
c.613-813T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507037
chr16:56507590 G
G
 A
A
 3 a0002c0002t0001g0104
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0104
a0002c0002t0001g0115
a0002c0002t0001g0116
 3 HG01975.hp2
HG01981.hp1
HG02148.hp1
HG01975.hp2
HG01981.hp1
HG02148.hp1
 intron_variant MODIFIER c.613-1366C>T
c.613-1366C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507590
chr16:56507632 G
G
 A
A
 2 a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0117
a0002c0002t0001g0118
 2 NA18944.hp1
NA19066.hp1
NA18944.hp1
NA19066.hp1
 intron_variant MODIFIER c.613-1408C>T
c.613-1408C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507632
chr16:56507660 G
G
 C
C
 7 a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
others(4): Show 
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
 8 HG02280.hp2
HG02717.hp2
HG02818.hp2
others(5): Show 
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
 intron_variant MODIFIER c.613-1436C>G
c.613-1436C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507660
chr16:56507738 C
C
 T
T
 3 a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0198
a0001c0001t0001g0203
a0001c0001t0001g0204
 3 HG00544.hp1
NA19075.hp2
NA19084.hp2
HG00544.hp1
NA19075.hp2
NA19084.hp2
 intron_variant MODIFIER c.613-1514G>A
c.613-1514G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507738
chr16:56507754 G
G
 A
A
 9 a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
others(6): Show 
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 11 HG02258.hp1
HG02280.hp2
HG02717.hp2
others(8): Show 
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.613-1530C>T
c.613-1530C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507754
chr16:56507899 C
C
 T
T
 77 a0001c0001t0001g0229
a0002c0002t0001g0003
a0002c0002t0001g0006
others(74): Show 
a0001c0001t0001g0229
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0045
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 110 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(107): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.613-1675G>A
c.613-1675G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507899
chr16:56507924 C
C
 T
T
 2 a0001c0001t0002g0043
a0002c0002t0002g0050
a0001c0001t0002g0043
a0002c0002t0002g0050
 2 HG02809.hp2
HG03017.hp1
HG02809.hp2
HG03017.hp1
 intron_variant MODIFIER c.613-1700G>A
c.613-1700G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56507924
chr16:56508209 T
T
 C
C
 120 a0001c0001t0001g0216
a0001c0001t0001g0229
a0001c0001t0002g0043
others(117): Show 
a0001c0001t0001g0216
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 158 HG00423.hp1
HG00438.hp2
HG00558.hp2
others(155): Show 
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03017.hp1
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03209.hp2
HG03453.hp2
HG03486.hp2
HG03490.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG03834.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18967.hp2
NA18969.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19070.hp1
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.612+1748A>G
c.612+1748A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508209
chr16:56508328 G
G
 A
A
 1 a0001c0001t0001g0097
a0001c0001t0001g0097
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.612+1629C>T
c.612+1629C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508328
chr16:56508352 A
A
 T
T
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.612+1605T>A
c.612+1605T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508352
chr16:56508405 T
T
 A
A
 12 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(9): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 14 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(11): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.612+1552A>T
c.612+1552A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508405
chr16:56508428 C
C
 G
G
 76 a0001c0001t0001g0229
a0002c0002t0001g0003
a0002c0002t0001g0006
others(73): Show 
a0001c0001t0001g0229
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 109 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(106): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.612+1529G>C
c.612+1529G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508428
chr16:56508600 C
C
 T
T
 1 a0001c0001t0001g0218
a0001c0001t0001g0218
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.612+1357G>A
c.612+1357G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508600
chr16:56508679 TC
TC
 T
T
 280 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(277): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0005t0001g0034
a0001c0005t0001g0183
a0001c0006t0001g0128
a0001c0007t0003g0279
a0001c0008t0001g0186
a0001c0009t0001g0227
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 397 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(394): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.612+1277delG
c.612+1277delG
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508679
chr16:56508683 T
T
 C
C
 76 a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
others(73): Show 
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0045
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0005c0012t0004g0160
 109 HG00438.hp2
HG00609.hp2
HG00642.hp1
others(106): Show 
HG00438.hp2
HG00609.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp1
HG02027.hp2
HG02080.hp1
HG02129.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02293.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03139.hp1
HG03453.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18612.hp2
NA18906.hp2
NA18939.hp2
NA18941.hp2
NA18942.hp1
NA18944.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19010.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.612+1274A>G
c.612+1274A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508683
chr16:56508684 GC
GC
 G
G
 280 a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
others(277): Show 
a0001c0001t0001g0001
a0001c0001t0001g0002
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0014
a0001c0001t0001g0015
a0001c0001t0001g0016
a0001c0001t0001g0017
a0001c0001t0001g0018
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0123
a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0126
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0165
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0168
a0001c0001t0001g0169
a0001c0001t0001g0170
a0001c0001t0001g0171
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0174
a0001c0001t0001g0175
a0001c0001t0001g0176
a0001c0001t0001g0177
a0001c0001t0001g0178
a0001c0001t0001g0179
a0001c0001t0001g0180
a0001c0001t0001g0181
a0001c0001t0001g0182
a0001c0001t0001g0184
a0001c0001t0001g0185
a0001c0001t0001g0187
a0001c0001t0001g0188
a0001c0001t0001g0189
a0001c0001t0001g0190
a0001c0001t0001g0191
a0001c0001t0001g0192
a0001c0001t0001g0193
a0001c0001t0001g0194
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0001g0205
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0208
a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0211
a0001c0001t0001g0212
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0005t0001g0034
a0001c0005t0001g0183
a0001c0006t0001g0128
a0001c0007t0003g0279
a0001c0008t0001g0186
a0001c0009t0001g0227
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 397 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(394): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00544.hp1
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18948.hp2
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19001.hp1
NA19001.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19006.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp1
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19075.hp1
NA19075.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19082.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.612+1272delG
c.612+1272delG
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508684
chr16:56508701 AGTGGCGT
others(14): Show 
AGTGGCGTGATCATAGCTCACT
 A
A
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02615.hp1
NA18522.hp1
HG02615.hp1
NA18522.hp1
 intron_variant MODIFIER c.612+1235_612+1255d
others(23): Show 
c.612+1235_612+1255delAGTGAGCTATGATCACGCCAC
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508701
chr16:56508707 G
G
 A
A
 2 a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0098
a0001c0001t0001g0099
 2 HG01515.hp2
HG01516.hp1
HG01515.hp2
HG01516.hp1
 intron_variant MODIFIER c.612+1250C>T
c.612+1250C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508707
chr16:56508768 C
C
 T
T
 12 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
others(9): Show 
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 14 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(11): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.612+1189G>A
c.612+1189G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508768
chr16:56508793 G
G
 A
A
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.612+1164C>T
c.612+1164C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56508793
chr16:56509004 A
A
 G
G
 1 a0005c0012t0004g0160
a0005c0012t0004g0160
 1 NA18959.hp1
NA18959.hp1
 intron_variant MODIFIER c.612+953T>C
c.612+953T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509004
chr16:56509030 T
T
 C
C
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.612+927A>G
c.612+927A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509030
chr16:56509137 G
G
 C
C
 13 a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
others(10): Show 
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
 15 HG02258.hp1
HG02280.hp2
HG02622.hp2
others(12): Show 
HG02258.hp1
HG02280.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.612+820C>G
c.612+820C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509137
chr16:56509155 T
T
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.612+802A>G
c.612+802A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509155
chr16:56509230 G
G
 A
A
 31 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(28): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0213
a0001c0001t0001g0214
 50 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(47): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG03017.hp2
HG03225.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.612+727C>T
c.612+727C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509230
chr16:56509646 A
A
 G
G
 218 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(215): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 302 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(299): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.612+311T>C
c.612+311T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509646
chr16:56509733 C
C
 T
T
 1 a0001c0001t0002g0043
a0001c0001t0002g0043
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.612+224G>A
c.612+224G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509733
chr16:56509915 A
A
 G
G
 3 a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
 3 HG00639.hp2
HG01081.hp2
HG01106.hp1
HG00639.hp2
HG01081.hp2
HG01106.hp1
 intron_variant MODIFIER c.612+42T>C
c.612+42T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509915
chr16:56509945 G
G
 T
T
 3 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
 3 HG02622.hp2
HG02717.hp1
HG03098.hp1
HG02622.hp2
HG02717.hp1
HG03098.hp1
 intron_variant MODIFIER c.612+12C>A
c.612+12C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 5/16 chr16 56509945
chr16:56510072 T
T
 G
G
 4 a0001c0001t0001g0031
a0001c0001t0001g0158
a0001c0001t0001g0159
others(1): Show 
a0001c0001t0001g0031
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0197
 5 HG02559.hp1
HG02572.hp2
HG02809.hp1
others(2): Show 
HG02559.hp1
HG02572.hp2
HG02809.hp1
HG03098.hp2
NA19240.hp1
 intron_variant MODIFIER c.535-38A>C
c.535-38A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510072
chr16:56510198 A
A
 C
C
 2 a0001c0001t0001g0080
a0001c0001t0001g0213
a0001c0001t0001g0080
a0001c0001t0001g0213
 2 HG00140.hp2
NA20905.hp2
HG00140.hp2
NA20905.hp2
 intron_variant MODIFIER c.535-164T>G
c.535-164T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510198
chr16:56510279 C
C
 T
T
 4 a0001c0001t0001g0120
a0001c0001t0001g0200
a0001c0001t0001g0201
others(1): Show 
a0001c0001t0001g0120
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
 4 NA18953.hp1
NA18966.hp2
NA19058.hp2
others(1): Show 
NA18953.hp1
NA18966.hp2
NA19058.hp2
NA19090.hp1
 intron_variant MODIFIER c.535-245G>A
c.535-245G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510279
chr16:56510310 C
C
 G
G
 2 a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0078
a0001c0001t0001g0079
 2 HG02615.hp1
NA18522.hp1
HG02615.hp1
NA18522.hp1
 intron_variant MODIFIER c.535-276G>C
c.535-276G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510310
chr16:56510629 G
G
 A
A
 3 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
 3 HG02622.hp2
HG02717.hp1
HG03098.hp1
HG02622.hp2
HG02717.hp1
HG03098.hp1
 intron_variant MODIFIER c.534+230C>T
c.534+230C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510629
chr16:56510744 A
A
 G
G
 5 a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0047
others(2): Show 
a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
 7 HG00673.hp2
HG03704.hp2
NA18950.hp1
others(4): Show 
HG00673.hp2
HG03704.hp2
NA18950.hp1
NA18952.hp2
NA18969.hp2
NA19066.hp2
NA19075.hp1
 intron_variant MODIFIER c.534+115T>C
c.534+115T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510744
chr16:56510839 A
A
 G
G
 1 a0002c0002t0001g0232
a0002c0002t0001g0232
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.534+20T>C
c.534+20T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 4/16 chr16 56510839
chr16:56511345 T
T
 A
A
 1 a0001c0001t0001g0192
a0001c0001t0001g0192
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.346-61A>T
c.346-61A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56511345
chr16:56511435 C
C
 T
T
 4 a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
others(1): Show 
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
 4 HG02895.hp2
HG06807.hp2
NA18906.hp2
others(1): Show 
HG02895.hp2
HG06807.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.346-151G>A
c.346-151G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56511435
chr16:56511589 T
T
 G
G
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.346-305A>C
c.346-305A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56511589
chr16:56511598 A
A
 G
G
 1 a0002c0002t0001g0105
a0002c0002t0001g0105
 1 NA19010.hp2
NA19010.hp2
 intron_variant MODIFIER c.346-314T>C
c.346-314T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56511598
chr16:56511644 G
G
 T
T
 1 a0002c0002t0001g0104
a0002c0002t0001g0104
 1 HG01981.hp1
HG01981.hp1
 intron_variant MODIFIER c.346-360C>A
c.346-360C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56511644
chr16:56511748 C
C
 T
T
 3 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
 3 HG02622.hp2
HG02717.hp1
HG03098.hp1
HG02622.hp2
HG02717.hp1
HG03098.hp1
 intron_variant MODIFIER c.346-464G>A
c.346-464G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56511748
chr16:56512003 T
T
 G
G
 3 a0002c0002t0001g0032
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0032
a0002c0002t0001g0163
a0002c0002t0001g0164
 4 HG02145.hp2
HG03139.hp1
HG03453.hp2
others(1): Show 
HG02145.hp2
HG03139.hp1
HG03453.hp2
NA20300.hp1
 intron_variant MODIFIER c.346-719A>C
c.346-719A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56512003
chr16:56512349 G
G
 A
A
 1 a0001c0001t0001g0193
a0001c0001t0001g0193
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.346-1065C>T
c.346-1065C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56512349
chr16:56512374 A
A
 G
G
 5 a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0047
others(2): Show 
a0002c0002t0002g0011
a0002c0002t0002g0041
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
 7 HG00673.hp2
HG03704.hp2
NA18950.hp1
others(4): Show 
HG00673.hp2
HG03704.hp2
NA18950.hp1
NA18952.hp2
NA18969.hp2
NA19066.hp2
NA19075.hp1
 intron_variant MODIFIER c.346-1090T>C
c.346-1090T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56512374
chr16:56512945 G
G
 A
A
 1 a0001c0001t0001g0194
a0001c0001t0001g0194
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.345+1508C>T
c.345+1508C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56512945
chr16:56513221 G
G
 C
C
 1 a0001c0001t0001g0100
a0001c0001t0001g0100
 1 NA18981.hp1
NA18981.hp1
 intron_variant MODIFIER c.345+1232C>G
c.345+1232C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513221
chr16:56513251 T
T
 C
C
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.345+1202A>G
c.345+1202A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513251
chr16:56513320 A
A
 C
C
 31 a0001c0001t0001g0030
a0002c0002t0002g0011
a0002c0002t0002g0020
others(28): Show 
a0001c0001t0001g0030
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 35 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(32): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18985.hp1
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19006.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.345+1133T>G
c.345+1133T>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513320
chr16:56513342 C
C
 T
T
 219 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
others(216): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0030
a0001c0001t0001g0031
a0001c0001t0001g0036
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0157
a0001c0001t0001g0158
a0001c0001t0001g0159
a0001c0001t0001g0196
a0001c0001t0001g0197
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0006g0129
a0001c0006t0001g0128
a0001c0007t0003g0279
a0002c0002t0001g0003
a0002c0002t0001g0006
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0032
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0161
a0002c0002t0001g0162
a0002c0002t0001g0163
a0002c0002t0001g0164
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0010t0001g0264
a0002c0011t0004g0121
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
a0005c0012t0004g0160
 304 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(301): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00438.hp2
HG00558.hp2
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01256.hp2
HG01258.hp1
HG01346.hp2
HG01358.hp1
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18946.hp2
NA18947.hp1
NA18947.hp2
NA18948.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18955.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp1
NA18975.hp1
NA18975.hp2
NA18977.hp1
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp2
NA18991.hp2
NA18992.hp1
NA18992.hp2
NA18994.hp1
NA18994.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19001.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19005.hp1
NA19006.hp2
NA19009.hp1
NA19009.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19056.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19062.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19067.hp2
NA19070.hp1
NA19075.hp1
NA19076.hp1
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19086.hp1
NA19086.hp2
NA19087.hp1
NA19087.hp2
NA19090.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.345+1111G>A
c.345+1111G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513342
chr16:56513603 A
A
 G
G
 1 a0001c0001t0001g0127
a0001c0001t0001g0127
 1 HG03654.hp2
HG03654.hp2
 intron_variant MODIFIER c.345+850T>C
c.345+850T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513603
chr16:56513682 G
G
 C
C
 1 a0002c0002t0002g0046
a0002c0002t0002g0046
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.345+771C>G
c.345+771C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513682
chr16:56513924 T
T
 C
C
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.345+529A>G
c.345+529A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56513924
chr16:56514085 G
G
 A
A
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.345+368C>T
c.345+368C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56514085
chr16:56514365 C
C
 T
T
 1 a0002c0002t0001g0240
a0002c0002t0001g0240
 1 HG01168.hp1
HG01168.hp1
 intron_variant MODIFIER c.345+88G>A
c.345+88G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 2/16 chr16 56514365
chr16:56514797 C
C
 G
G
 1 a0002c0002t0002g0046
a0002c0002t0002g0046
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.118-117G>C
c.118-117G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56514797
chr16:56514865 C
C
 T
T
 60 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
others(57): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0012
a0001c0001t0001g0013
a0001c0001t0001g0021
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0127
a0001c0001t0001g0130
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0133
a0001c0001t0001g0134
a0001c0001t0001g0135
a0001c0001t0001g0136
a0001c0001t0001g0137
a0001c0001t0001g0138
a0001c0001t0001g0139
a0001c0001t0001g0140
a0001c0001t0001g0141
a0001c0001t0001g0142
a0001c0001t0001g0143
a0001c0001t0001g0144
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0147
a0001c0001t0001g0148
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0151
a0001c0001t0001g0152
a0001c0001t0001g0153
a0001c0001t0001g0154
a0001c0001t0001g0155
a0001c0001t0001g0156
a0001c0001t0001g0196
a0001c0001t0001g0199
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0211
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0006g0129
a0001c0006t0001g0128
 86 HG00099.hp1
HG00323.hp2
HG00408.hp2
others(83): Show 
HG00099.hp1
HG00323.hp2
HG00408.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01109.hp1
HG01192.hp2
HG01258.hp1
HG01358.hp1
HG01496.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp2
HG02015.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02080.hp2
HG02083.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02293.hp2
HG02451.hp2
HG02523.hp2
HG02559.hp2
HG02630.hp2
HG02698.hp1
HG02723.hp1
HG02735.hp2
HG02886.hp1
HG02895.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03491.hp1
HG03579.hp1
HG03654.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
NA18747.hp1
NA18906.hp1
NA18942.hp2
NA18946.hp2
NA18947.hp2
NA18949.hp1
NA18955.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18967.hp1
NA18968.hp2
NA18971.hp1
NA18980.hp1
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18989.hp2
NA18999.hp2
NA19000.hp1
NA19003.hp2
NA19010.hp1
NA19012.hp2
NA19057.hp1
NA19062.hp1
NA19067.hp2
NA19076.hp1
NA19091.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp1
 intron_variant MODIFIER c.118-185G>A
c.118-185G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56514865
chr16:56515109 A
A
 AT
AT
 42 a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
others(39): Show 
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 47 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(44): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.118-430dupA
c.118-430dupA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515109
chr16:56515415 G
G
 A
A
 1 a0001c0001t0001g0196
a0001c0001t0001g0196
 1 HG02523.hp2
HG02523.hp2
 intron_variant MODIFIER c.118-735C>T
c.118-735C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515415
chr16:56515433 C
C
 T
T
 1 a0001c0001t0001g0126
a0001c0001t0001g0126
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.118-753G>A
c.118-753G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515433
chr16:56515526 A
A
 G
G
 1 a0001c0001t0001g0077
a0001c0001t0001g0077
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.118-846T>C
c.118-846T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515526
chr16:56515615 T
T
 C
C
 1 a0003c0003t0003g0277
a0003c0003t0003g0277
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.118-935A>G
c.118-935A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515615
chr16:56515762 G
G
 A
A
 11 a0002c0002t0001g0003
a0002c0002t0001g0260
a0002c0002t0001g0263
others(8): Show 
a0002c0002t0001g0003
a0002c0002t0001g0260
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 22 HG00438.hp2
HG02027.hp1
HG02129.hp1
others(19): Show 
HG00438.hp2
HG02027.hp1
HG02129.hp1
HG02738.hp1
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
 intron_variant MODIFIER c.118-1082C>T
c.118-1082C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515762
chr16:56515980 T
T
 A
A
 29 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(26): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 32 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(29): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.118-1300A>T
c.118-1300A>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56515980
chr16:56516126 C
C
 G
G
 1 a0001c0001t0001g0198
a0001c0001t0001g0198
 1 NA19084.hp2
NA19084.hp2
 intron_variant MODIFIER c.118-1446G>C
c.118-1446G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516126
chr16:56516149 T
T
 C
C
 1 a0002c0002t0002g0045
a0002c0002t0002g0045
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.118-1469A>G
c.118-1469A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516149
chr16:56516223 G
G
 A
A
 1 a0001c0001t0001g0197
a0001c0001t0001g0197
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.118-1543C>T
c.118-1543C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516223
chr16:56516239 C
C
 G
G
 2 a0001c0001t0001g0124
a0001c0001t0001g0125
a0001c0001t0001g0124
a0001c0001t0001g0125
 2 HG04199.hp1
NA20905.hp1
HG04199.hp1
NA20905.hp1
 intron_variant MODIFIER c.118-1559G>C
c.118-1559G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516239
chr16:56516241 A
A
 G
G
 2 a0001c0001t0001g0071
a0001c0001t0001g0123
a0001c0001t0001g0071
a0001c0001t0001g0123
 2 HG00323.hp1
HG01515.hp1
HG00323.hp1
HG01515.hp1
 intron_variant MODIFIER c.118-1561T>C
c.118-1561T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516241
chr16:56516484 C
C
 T
T
 2 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0001t0003g0280
a0001c0001t0003g0281
 2 HG02622.hp2
HG03098.hp1
HG02622.hp2
HG03098.hp1
 intron_variant MODIFIER c.118-1804G>A
c.118-1804G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516484
chr16:56516499 G
G
 C
C
 42 a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
others(39): Show 
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 47 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(44): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.118-1819C>G
c.118-1819C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516499
chr16:56516805 C
C
 A
A
 1 a0001c0001t0001g0228
a0001c0001t0001g0228
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.118-2125G>T
c.118-2125G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516805
chr16:56516993 T
T
 TTTATTA
TTTATTA
 10 a0001c0001t0001g0120
a0001c0001t0001g0198
a0001c0001t0001g0199
others(7): Show 
a0001c0001t0001g0120
a0001c0001t0001g0198
a0001c0001t0001g0199
a0001c0001t0001g0200
a0001c0001t0001g0201
a0001c0001t0001g0202
a0001c0001t0001g0203
a0001c0001t0001g0204
a0001c0001t0003g0280
a0001c0001t0003g0281
 10 HG00544.hp1
HG02622.hp2
HG03098.hp1
others(7): Show 
HG00544.hp1
HG02622.hp2
HG03098.hp1
HG03225.hp2
NA18953.hp1
NA18966.hp2
NA19058.hp2
NA19075.hp2
NA19084.hp2
NA19090.hp1
 intron_variant MODIFIER c.118-2319_118-2314d
others(8): Show 
c.118-2319_118-2314dupTAATAA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56516993
chr16:56517076 CTCTA
CTCTA
 C
C
 3 a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0261
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0261
 3 NA18992.hp2
NA18994.hp1
NA19005.hp1
NA18992.hp2
NA18994.hp1
NA19005.hp1
 intron_variant MODIFIER c.118-2400_118-2397d
others(6): Show 
c.118-2400_118-2397delTAGA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517076
chr16:56517109 C
C
 A
A
 3 a0002c0002t0004g0027
a0002c0002t0004g0122
a0002c0011t0004g0121
a0002c0002t0004g0027
a0002c0002t0004g0122
a0002c0011t0004g0121
 4 NA18941.hp2
NA18962.hp1
NA19065.hp1
others(1): Show 
NA18941.hp2
NA18962.hp1
NA19065.hp1
NA19070.hp1
 intron_variant MODIFIER c.118-2429G>T
c.118-2429G>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517109
chr16:56517110 G
G
 A
A
 1 a0001c0001t0001g0205
a0001c0001t0001g0205
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.118-2430C>T
c.118-2430C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517110
chr16:56517152 G
G
 A
A
 1 a0002c0002t0001g0270
a0002c0002t0001g0270
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.118-2472C>T
c.118-2472C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517152
chr16:56517388 G
G
 A
A
 2 a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0206
a0001c0001t0001g0207
 2 HG03688.hp2
HG04115.hp1
HG03688.hp2
HG04115.hp1
 intron_variant MODIFIER c.117+2358C>T
c.117+2358C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517388
chr16:56517519 C
C
 G
G
 2 a0001c0001t0001g0215
a0001c0001t0001g0217
a0001c0001t0001g0215
a0001c0001t0001g0217
 2 HG01891.hp2
HG03579.hp2
HG01891.hp2
HG03579.hp2
 intron_variant MODIFIER c.117+2227G>C
c.117+2227G>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517519
chr16:56517654 G
G
 A
A
 3 a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
 3 HG02083.hp2
NA18979.hp2
NA19079.hp2
HG02083.hp2
NA18979.hp2
NA19079.hp2
 intron_variant MODIFIER c.117+2092C>T
c.117+2092C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517654
chr16:56517781 A
A
 G
G
 1 a0001c0001t0001g0216
a0001c0001t0001g0216
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.117+1965T>C
c.117+1965T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517781
chr16:56517805 T
T
 G
G
 1 a0002c0002t0002g0060
a0002c0002t0002g0060
 1 NA18994.hp2
NA18994.hp2
 intron_variant MODIFIER c.117+1941A>C
c.117+1941A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517805
chr16:56517821 C
C
 CT
CT
 34 a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
others(31): Show 
a0001c0001t0001g0101
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0119
a0001c0001t0001g0120
a0001c0001t0001g0211
a0001c0001t0001g0215
a0001c0001t0002g0043
a0002c0002t0001g0006
a0002c0002t0001g0024
a0002c0002t0001g0026
a0002c0002t0001g0070
a0002c0002t0001g0104
a0002c0002t0001g0105
a0002c0002t0001g0108
a0002c0002t0001g0109
a0002c0002t0001g0111
a0002c0002t0001g0113
a0002c0002t0001g0114
a0002c0002t0001g0115
a0002c0002t0001g0116
a0002c0002t0001g0117
a0002c0002t0001g0118
a0002c0002t0001g0237
a0002c0002t0001g0260
a0002c0002t0002g0044
a0002c0002t0004g0025
a0002c0002t0004g0027
a0002c0002t0004g0106
a0002c0002t0004g0107
a0002c0002t0004g0110
a0002c0002t0004g0112
a0002c0002t0004g0122
a0002c0011t0004g0121
 44 HG00609.hp2
HG01346.hp2
HG01433.hp1
others(41): Show 
HG00609.hp2
HG01346.hp2
HG01433.hp1
HG01934.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG02004.hp2
HG02027.hp2
HG02080.hp1
HG02148.hp1
HG02155.hp1
HG02257.hp1
HG02293.hp1
HG02293.hp2
HG02809.hp2
HG03579.hp2
HG04204.hp1
NA18612.hp2
NA18941.hp2
NA18944.hp1
NA18944.hp2
NA18950.hp2
NA18961.hp2
NA18962.hp1
NA18977.hp1
NA18987.hp2
NA18988.hp2
NA18989.hp1
NA19000.hp1
NA19002.hp2
NA19003.hp1
NA19010.hp2
NA19058.hp1
NA19062.hp2
NA19065.hp1
NA19066.hp1
NA19070.hp1
NA19079.hp1
NA19080.hp1
NA19087.hp2
NA19090.hp1
NA19090.hp2
NA20129.hp1
 intron_variant MODIFIER c.117+1924dupA
c.117+1924dupA
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517821
chr16:56517840 G
G
 C
C
 3 a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
 3 HG02622.hp2
HG02717.hp1
HG03098.hp1
HG02622.hp2
HG02717.hp1
HG03098.hp1
 intron_variant MODIFIER c.117+1906C>G
c.117+1906C>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517840
chr16:56517926 TC
TC
 T
T
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.117+1819delG
c.117+1819delG
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517926
chr16:56517991 A
A
 G
G
 2 a0002c0002t0001g0010
a0002c0002t0001g0236
a0002c0002t0001g0010
a0002c0002t0001g0236
 5 HG02451.hp1
HG02615.hp2
HG02723.hp2
others(2): Show 
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG03516.hp1
NA19043.hp2
 intron_variant MODIFIER c.117+1755T>C
c.117+1755T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56517991
chr16:56518219 T
T
 G
G
 1 a0001c0001t0001g0208
a0001c0001t0001g0208
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.117+1527A>C
c.117+1527A>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518219
chr16:56518261 A
A
 G
G
 43 a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
others(40): Show 
a0001c0001t0002g0043
a0001c0001t0003g0280
a0001c0001t0003g0281
a0001c0007t0003g0279
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
a0003c0003t0003g0278
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 48 HG00423.hp1
HG00558.hp2
HG00673.hp2
others(45): Show 
HG00423.hp1
HG00558.hp2
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02135.hp1
HG02258.hp1
HG02280.hp2
HG02602.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02818.hp2
HG03017.hp1
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03654.hp1
HG03688.hp1
HG03704.hp2
HG03831.hp2
HG04199.hp2
HG04204.hp2
NA18522.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19084.hp1
NA19086.hp1
 intron_variant MODIFIER c.117+1485T>C
c.117+1485T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518261
chr16:56518432 T
T
 C
C
 2 a0001c0001t0001g0209
a0001c0001t0001g0210
a0001c0001t0001g0209
a0001c0001t0001g0210
 2 HG00544.hp2
NA19081.hp1
HG00544.hp2
NA19081.hp1
 intron_variant MODIFIER c.117+1314A>G
c.117+1314A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518432
chr16:56518670 G
G
 A
A
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.117+1076C>T
c.117+1076C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518670
chr16:56518674 T
T
 C
C
 1 a0001c0001t0001g0211
a0001c0001t0001g0211
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.117+1072A>G
c.117+1072A>G
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518674
chr16:56518768 A
A
 G
G
 31 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(28): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0213
a0001c0001t0001g0214
 50 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(47): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG03017.hp2
HG03225.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.117+978T>C
c.117+978T>C
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518768
chr16:56518771 A
A
 AGCATTTT
others(46): Show 
AGCATTTTGGGCATGCCTCCGTCAAATACACAGGGCTCTGATTTGCCTTG
TCTG
 31 a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
others(28): Show 
a0001c0001t0001g0001
a0001c0001t0001g0022
a0001c0001t0001g0023
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0079
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0086
a0001c0001t0001g0087
a0001c0001t0001g0088
a0001c0001t0001g0089
a0001c0001t0001g0090
a0001c0001t0001g0091
a0001c0001t0001g0092
a0001c0001t0001g0093
a0001c0001t0001g0094
a0001c0001t0001g0095
a0001c0001t0001g0096
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0213
a0001c0001t0001g0214
 50 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(47): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00639.hp1
HG00735.hp2
HG01081.hp1
HG01167.hp2
HG01169.hp2
HG01255.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp1
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02109.hp2
HG02257.hp2
HG02280.hp1
HG02523.hp1
HG02572.hp1
HG02615.hp1
HG02698.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG03017.hp2
HG03225.hp1
HG03710.hp1
HG03831.hp1
HG03927.hp1
HG04184.hp2
HG06807.hp1
NA18522.hp1
NA18612.hp1
NA18940.hp2
NA18941.hp1
NA18945.hp1
NA18955.hp1
NA18975.hp1
NA18981.hp1
NA18982.hp2
NA18992.hp1
NA19009.hp1
NA19043.hp1
NA19077.hp2
NA19080.hp2
NA19087.hp1
NA19240.hp2
NA20905.hp2
 intron_variant MODIFIER c.117+974_117+975ins
others(53): Show 
c.117+974_117+975insCAGACAAGGCAAATCAGAGCCCTGTGTATT
TGACGGAGGCATGCCCAAAATGC
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518771
chr16:56518907 G
G
 A
A
 23 a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
others(20): Show 
a0002c0002t0002g0011
a0002c0002t0002g0020
a0002c0002t0002g0041
a0002c0002t0002g0042
a0002c0002t0002g0044
a0002c0002t0002g0045
a0002c0002t0002g0046
a0002c0002t0002g0047
a0002c0002t0002g0048
a0002c0002t0002g0049
a0002c0002t0002g0050
a0002c0002t0002g0051
a0002c0002t0002g0052
a0002c0002t0002g0053
a0002c0002t0002g0054
a0002c0002t0002g0055
a0002c0002t0002g0056
a0002c0002t0002g0057
a0002c0002t0002g0058
a0002c0002t0002g0059
a0002c0002t0002g0060
a0002c0002t0002g0061
a0002c0002t0002g0062
 26 HG00673.hp2
HG00741.hp1
HG01978.hp1
others(23): Show 
HG00673.hp2
HG00741.hp1
HG01978.hp1
HG02083.hp2
HG02602.hp2
HG03017.hp1
HG03491.hp2
HG03492.hp1
HG03704.hp2
HG03831.hp2
HG04204.hp2
NA18943.hp2
NA18950.hp1
NA18952.hp2
NA18964.hp1
NA18969.hp2
NA18979.hp2
NA18987.hp1
NA18989.hp1
NA18994.hp2
NA19011.hp1
NA19030.hp2
NA19066.hp2
NA19075.hp1
NA19079.hp2
NA19086.hp1
 intron_variant MODIFIER c.117+839C>T
c.117+839C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518907
chr16:56518974 G
G
 T
T
 4 a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
others(1): Show 
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
 4 HG02895.hp2
HG06807.hp2
NA18906.hp2
others(1): Show 
HG02895.hp2
HG06807.hp2
NA18906.hp2
NA20300.hp2
 intron_variant MODIFIER c.117+772C>A
c.117+772C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56518974
chr16:56519255 C
C
 T
T
 1 a0001c0001t0001g0021
a0001c0001t0001g0021
 2 HG01109.hp1
NA18906.hp1
HG01109.hp1
NA18906.hp1
 intron_variant MODIFIER c.117+491G>A
c.117+491G>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519255
chr16:56519280 G
G
 A
A
 1 a0001c0001t0001g0212
a0001c0001t0001g0212
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.117+466C>T
c.117+466C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519280
chr16:56519320 G
G
 A
A
 1 a0002c0002t0001g0231
a0002c0002t0001g0231
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.117+426C>T
c.117+426C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519320
chr16:56519321 A
A
 T
T
 1 a0002c0002t0001g0231
a0002c0002t0001g0231
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.117+425T>A
c.117+425T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519321
chr16:56519330 C
C
 CA
CA
 32 a0001c0001t0001g0036
a0001c0001t0001g0213
a0001c0001t0001g0214
others(29): Show 
a0001c0001t0001g0036
a0001c0001t0001g0213
a0001c0001t0001g0214
a0001c0001t0001g0215
a0001c0001t0001g0216
a0001c0001t0001g0217
a0001c0001t0001g0218
a0001c0001t0001g0219
a0001c0001t0001g0220
a0001c0001t0001g0221
a0001c0001t0001g0222
a0001c0001t0001g0223
a0001c0001t0001g0224
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0009t0001g0227
a0002c0002t0001g0003
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0002g0061
a0002c0002t0002g0062
a0002c0010t0001g0264
 44 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(41): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00408.hp2
HG00438.hp2
HG00639.hp2
HG01081.hp2
HG01106.hp1
HG01192.hp2
HG01258.hp1
HG01891.hp2
HG01978.hp1
HG02027.hp1
HG02109.hp1
HG02129.hp1
HG02602.hp2
HG02622.hp1
HG02738.hp1
HG03130.hp2
HG03579.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18952.hp1
NA18960.hp2
NA18961.hp1
NA18962.hp2
NA18978.hp2
NA18983.hp1
NA18988.hp1
NA18990.hp2
NA18994.hp1
NA18999.hp2
NA19002.hp1
NA19056.hp2
NA19057.hp2
NA19067.hp2
NA19077.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
NA19091.hp1
 intron_variant MODIFIER c.117+415dupT
c.117+415dupT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519330
chr16:56519330 C
C
 CAA
CAA
 8 a0002c0002t0001g0271
a0004c0004t0002g0039
a0004c0004t0002g0040
others(5): Show 
a0002c0002t0001g0271
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 8 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(5): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA18967.hp2
NA19084.hp1
 intron_variant MODIFIER c.117+414_117+415dup
others(2): Show 
c.117+414_117+415dupTT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519330
chr16:56519330 CA
CA
 C
C
 19 a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0072
others(16): Show 
a0001c0001t0001g0069
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0002c0002t0001g0070
a0002c0002t0001g0230
a0002c0002t0002g0041
a0002c0002t0002g0042
a0003c0003t0003g0037
a0003c0003t0003g0038
a0003c0003t0003g0272
a0003c0003t0003g0273
a0003c0003t0003g0274
a0003c0003t0003g0275
a0003c0003t0003g0276
a0003c0003t0003g0277
 21 HG00323.hp2
HG01169.hp2
HG01515.hp1
others(18): Show 
HG00323.hp2
HG01169.hp2
HG01515.hp1
HG02258.hp1
HG02280.hp2
HG02717.hp2
HG02818.hp2
HG02976.hp2
HG03130.hp1
HG03139.hp2
HG03209.hp2
HG03486.hp2
HG03516.hp2
HG03831.hp2
NA18522.hp2
NA18959.hp2
NA18969.hp2
NA18982.hp1
NA18985.hp2
NA18986.hp1
NA18988.hp2
 intron_variant MODIFIER c.117+415delT
c.117+415delT
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519330
chr16:56519377 G
G
 A
A
 46 a0002c0002t0001g0003
a0002c0002t0001g0007
a0002c0002t0001g0010
others(43): Show 
a0002c0002t0001g0003
a0002c0002t0001g0007
a0002c0002t0001g0010
a0002c0002t0001g0019
a0002c0002t0001g0230
a0002c0002t0001g0231
a0002c0002t0001g0232
a0002c0002t0001g0233
a0002c0002t0001g0234
a0002c0002t0001g0235
a0002c0002t0001g0236
a0002c0002t0001g0237
a0002c0002t0001g0238
a0002c0002t0001g0239
a0002c0002t0001g0240
a0002c0002t0001g0241
a0002c0002t0001g0242
a0002c0002t0001g0243
a0002c0002t0001g0244
a0002c0002t0001g0245
a0002c0002t0001g0246
a0002c0002t0001g0247
a0002c0002t0001g0248
a0002c0002t0001g0249
a0002c0002t0001g0250
a0002c0002t0001g0251
a0002c0002t0001g0252
a0002c0002t0001g0253
a0002c0002t0001g0254
a0002c0002t0001g0255
a0002c0002t0001g0256
a0002c0002t0001g0257
a0002c0002t0001g0258
a0002c0002t0001g0259
a0002c0002t0001g0260
a0002c0002t0001g0261
a0002c0002t0001g0262
a0002c0002t0001g0263
a0002c0002t0001g0265
a0002c0002t0001g0266
a0002c0002t0001g0267
a0002c0002t0001g0268
a0002c0002t0001g0269
a0002c0002t0001g0270
a0002c0002t0001g0271
a0002c0010t0001g0264
 68 HG00438.hp2
HG00642.hp1
HG00733.hp1
others(65): Show 
HG00438.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01256.hp2
HG02027.hp1
HG02129.hp1
HG02451.hp1
HG02615.hp2
HG02723.hp2
HG02738.hp1
HG02895.hp2
HG02976.hp1
HG03041.hp2
HG03490.hp1
HG03516.hp1
HG03834.hp1
HG04115.hp2
HG04204.hp1
HG06807.hp2
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18948.hp1
NA18949.hp2
NA18951.hp2
NA18952.hp1
NA18953.hp2
NA18959.hp2
NA18960.hp2
NA18962.hp2
NA18967.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18980.hp2
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18986.hp2
NA18988.hp1
NA18990.hp2
NA18991.hp2
NA18992.hp2
NA18994.hp1
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19009.hp2
NA19043.hp2
NA19056.hp2
NA19057.hp2
NA19077.hp1
NA19081.hp2
NA19082.hp1
NA19085.hp1
NA19086.hp2
NA19090.hp2
NA19091.hp1
NA20300.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.117+369C>T
c.117+369C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519377
chr16:56519439 A
A
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.117+307T>A
c.117+307T>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519439
chr16:56519579 G
G
 A
A
 7 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
others(4): Show 
a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0063
a0004c0004t0002g0064
a0004c0004t0002g0066
a0004c0004t0002g0067
a0004c0004t0005g0065
 7 HG00423.hp1
HG00558.hp2
HG02135.hp1
others(4): Show 
HG00423.hp1
HG00558.hp2
HG02135.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp2
NA19084.hp1
 intron_variant MODIFIER c.117+167C>T
c.117+167C>T
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519579
chr16:56519672 G
G
 T
T
 2 a0004c0004t0002g0039
a0004c0004t0002g0040
a0004c0004t0002g0039
a0004c0004t0002g0040
 2 HG03688.hp1
HG04199.hp2
HG03688.hp1
HG04199.hp2
 intron_variant MODIFIER c.117+74C>A
c.117+74C>A
BBS2 ENSG00000125124.14 transcript ENST00000245157.11 protein_coding 1/16 chr16 56519672

  • GeneCards
  • OpenTarget
  • The Human Protein Atlas
  • Gnomad v4.1.0
  • PhewebJP (Japan)
  • UKB-TOPMed (UMich) (UK and US)
  • FinnGen r11 (Finland)
  • KoGES (Korean)
  • Mouse Phenotype
  • Zebra Phenotype
  • TogoVar

  • DNA
  • Satellite
  • All Snps 1.4.2
  • RC
  • snRNA
  • SINE
  • GC %
  • Simple_repeat
  • RNA
  • Retroposon
  • Unknown
  • Low_complexity
  • LINE
  • scRNA
  • CpG Islands
  • Phastcons (20 way)
  • srpRNA
  • Common Snps 1.4.2
  • rRNA
  • LTR
  • tRNA

  • Axiom Genome-Wide Array (Japonica Array V1)
  • Axiom Genome-Wide Array (Japonica Array V2)
  • Axiom Genome-Wide ASI Array V1 (ASI V1)
​

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