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 | 1/0 | 721 | 246 | 55 | 43 | 104 | 16 | 27 | 79 | BBS2_chr16_56479385_56525024 | BBS2 | MLLPV others(716): Show |
chr16 | 56479385 | 56525024 |
a0002 | 0/0 | 721 | 132 | 18 | 21 | 81 | 0 | 12 | 71 | BBS2_chr16_56479385_56525024 | BBS2 | MLLPV others(716): Show |
chr16 | 56479385 | 56525024 |
a0003 | 0/0 | 721 | 11 | 11 | 0 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | MLLPV others(716): Show |
chr16 | 56479385 | 56525024 |
a0004 | 0/0 | 721 | 7 | 0 | 0 | 4 | 0 | 3 | 1 | BBS2_chr16_56479385_56525024 | BBS2 | MLLPV others(716): Show |
chr16 | 56479385 | 56525024 |
a0005 | 0/0 | 721 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BBS2_chr16_56479385_56525024 | BBS2 | MLLPV others(716): Show |
chr16 | 56479385 | 56525024 |
a0006 | 0/1 | 721 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | MLLPV others(716): Show |
chr16 | 56479385 | 56525024 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 2163 | 239 | 54 | 42 | 99 | 16 | 27 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0001c0005 | 0/0 | 2163 | 3 | 0 | 0 | 3 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0001c0007 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0001c0008 | 0/0 | 2163 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0001c0009 | 0/0 | 2163 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0001c0010 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0002c0002 | 0/0 | 2163 | 130 | 18 | 21 | 79 | 0 | 12 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0002c0011 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0002c0012 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0003c0003 | 0/0 | 2163 | 11 | 11 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0004c0004 | 0/0 | 2163 | 7 | 0 | 0 | 4 | 0 | 3 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0005c0013 | 0/0 | 2163 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 | ||
a0006c0006 | 0/1 | 2163 | 1 | 0 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | ATGCT others(2158): Show |
chr16 | 56479385 | 56525024 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 2704 | 235 | 50 | 42 | 99 | 16 | 27 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0001t0002 | 0/0 | 2704 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0001t0003 | 0/0 | 2704 | 2 | 2 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0001t0006 | 0/0 | 2704 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0005t0001 | 0/0 | 2704 | 3 | 0 | 0 | 3 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0007t0001 | 0/0 | 2704 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0008t0003 | 0/0 | 2704 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0009t0001 | 0/0 | 2704 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0001c0010t0001 | 0/0 | 2704 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0002c0002t0001 | 0/0 | 2704 | 95 | 16 | 16 | 58 | 0 | 5 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0002c0002t0002 | 0/0 | 2704 | 26 | 1 | 2 | 16 | 0 | 7 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0002c0002t0004 | 0/0 | 2704 | 9 | 1 | 3 | 5 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0002c0011t0001 | 0/0 | 2704 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0002c0012t0004 | 0/0 | 2704 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0003c0003t0003 | 0/0 | 2704 | 11 | 11 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0004c0004t0002 | 0/0 | 2704 | 6 | 0 | 0 | 3 | 0 | 3 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0004c0004t0005 | 0/0 | 2704 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0005c0013t0004 | 0/0 | 2704 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
chr16 | 56479385 | 56525024 |
a0006c0006t0001 | 0/1 | 2704 | 1 | 0 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | AGGCG others(2699): Show |
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 | 1/0 | 14 | 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 | 0 | 1 | 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 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 1 | 0 | 0 | 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 |
a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 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 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | 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 | 0 | 1 | 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 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 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 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0001t0001g0228 | 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 |
a0001c0001t0003g0279 | 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 |
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 |
a0001c0007t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0008t0003g0278 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0009t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0001c0010t0001g0226 | 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 |
a0002c0002t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 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 | 0 | 0 | 0 | 0 | 1 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | 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 |
a0002c0002t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0241 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0243 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 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 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0249 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 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 |
a0002c0002t0001g0264 | 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 | 0 | 0 | 1 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0002t0001g0270 | 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 |
a0002c0011t0001g0263 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0002c0012t0004g0121 | 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 |
a0003c0003t0003g0271 | 0/0 | 1 | 1 | 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 |
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 |
a0005c0013t0004g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
a0006c0006t0001g0239 | 0/1 | 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 | g0213 | EUR | GBR | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0212 | 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 | g0223 | 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 | g0202 | EAS | CHS | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG00544 | hp2 | a0001 | c0001 | t0001 | g0208 | 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 | g0204 | 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 | g0218 | AMR | PUR | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG00642 | hp1 | a0002 | c0002 | t0001 | g0250 | 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 | g0243 | 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 | c0009 | 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 | g0241 | 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 | g0246 | 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 | g0217 | 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 | g0254 | AMR | PUR | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG01106 | hp1 | a0001 | c0001 | t0001 | g0219 | AMR | PUR | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0211 | 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 | g0252 | 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 | g0092 | 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 | g0245 | AMR | CLM | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0224 | 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 | g0089 | EUR | IBS | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG01516 | hp1 | a0001 | c0001 | t0001 | g0094 | 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 | g0097 | 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 | g0216 | AFR | ACB | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG01928 | hp1 | a0001 | c0001 | t0001 | g0099 | 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 | g0272 | 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 | g0195 | EAS | KHV | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG02572 | hp1 | a0001 | c0001 | t0001 | g0096 | 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 | g0215 | AFR | GWD | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG02622 | hp2 | a0001 | c0001 | t0003 | g0279 | AFR | GWD | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG02630 | hp1 | a0001 | c0001 | t0001 | g0207 | 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 | c0008 | t0003 | g0278 | 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 | g0269 | 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 | g0275 | 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 | g0232 | 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 | g0230 | 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 | g0251 | AFR | GWD | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG03098 | hp1 | a0001 | c0001 | t0003 | g0280 | AFR | MSL | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG03098 | hp2 | a0001 | c0001 | t0001 | g0196 | AFR | MSL | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG03130 | hp1 | a0003 | c0003 | t0003 | g0273 | AFR | ESN | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG03130 | hp2 | a0001 | c0001 | t0001 | g0221 | 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 | g0276 | 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 | g0198 | 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 | g0271 | 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 | g0235 | AFR | ESN | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG03516 | hp2 | a0003 | c0003 | t0003 | g0274 | 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 | g0214 | 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 | g0206 | 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 | g0093 | 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 | g0205 | SAS | STU | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG04115 | hp2 | a0002 | c0002 | t0001 | g0249 | 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 | g0236 | 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 | g0090 | 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 | g0233 | 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 | g0267 | 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 | c0007 | 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 | g0199 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18953 | hp2 | a0002 | c0002 | t0001 | g0242 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18959 | hp1 | a0005 | c0013 | t0004 | g0160 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18959 | hp2 | a0002 | c0002 | t0001 | g0229 | 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 | c0011 | t0001 | g0263 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0227 | 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 | c0012 | t0004 | g0121 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18962 | hp2 | a0002 | c0002 | t0001 | g0265 | 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 | g0200 | 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 | g0270 | 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 | g0256 | 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 | g0253 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18978 | hp2 | a0001 | c0010 | t0001 | g0226 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18979 | hp1 | a0002 | c0002 | t0001 | g0257 | 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 | g0248 | 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 | g0091 | 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 | g0255 | 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 | g0266 | 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 | g0244 | 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 | g0237 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA18994 | hp1 | a0002 | c0002 | t0001 | g0260 | 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 | g0222 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0210 | 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 | g0225 | 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 | g0238 | 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 | g0277 | 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 | g0262 | 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 | g0201 | 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 | g0220 | 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 | g0203 | 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 | g0209 | 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 | g0258 | 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 | g0197 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA19085 | hp1 | a0002 | c0002 | t0001 | g0268 | 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 | g0264 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA19087 | hp1 | a0001 | c0001 | t0001 | g0098 | 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 | g0259 | EAS | JPT | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
NA19091 | hp1 | a0002 | c0002 | t0001 | g0261 | 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 | g0247 | 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 | g0228 | 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 | g0095 | AFR | USA | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
HG06807 | hp2 | a0002 | c0002 | t0001 | g0234 | 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 | g0231 | AFR | USA | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
homoSapiens | chm13v2 | a0006 | c0006 | t0001 | g0239 | REF | REF | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0002 | REF | REF | BBS2_chr16_56479385_56525024 | BBS2 | chr16 | 56479385 | 56525024 |
view | 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 | A | 1 | a0005 | 1 | NA18959.hp1 | missense_variant | MODERATE | c.2125A>T | p.Thr709Ser | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 17/17 | 2287/2704 | 2125/2166 | 709/721 | chr16 | 56484802 | |||
chr16:56499794 | G | A | 1 | a0003 | 11 | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
missense_variant | MODERATE | c.1511C>T | p.Ala504Val | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 12/17 | 1673/2704 | 1511/2166 | 504/721 | chr16 | 56499794 | |||
chr16:56502748 | T | C | 1 | a0004 | 7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
missense_variant | MODERATE | c.865A>G | p.Ile289Val | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 8/17 | 1027/2704 | 865/2166 | 289/721 | chr16 | 56502748 | |||
chr16:56511263 | T | C | 2 | a0002 a0005 |
133 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(130): Show |
missense_variant | MODERATE | c.367A>G | p.Ile123Val | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 3/17 | 529/2704 | 367/2166 | 123/721 | chr16 | 56511263 |
view | 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 | T | 1 | a0001c0005 | 3 | NA18948.hp2 NA18971.hp2 NA19067.hp1 |
synonymous_variant | LOW | c.2079G>A | p.Gln693Gln | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 17/17 | 2241/2704 | 2079/2166 | 693/721 | chr16 | 56484848 | |||
chr16:56497800 | A | G | 1 | a0002c0012 | 1 | NA18962.hp1 | synonymous_variant | LOW | c.1740T>C | p.Leu580Leu | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 14/17 | 1902/2704 | 1740/2166 | 580/721 | chr16 | 56497800 | |||
chr16:56500871 | G | A | 1 | a0001c0009 | 1 | HG00738.hp2 | synonymous_variant | LOW | c.1380C>T | p.Phe460Phe | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/17 | 1542/2704 | 1380/2166 | 460/721 | chr16 | 56500871 | |||
chr16:56501420 | C | T | 1 | a0002c0011 | 1 | NA18960.hp2 | synonymous_variant | LOW | c.1158G>A | p.Thr386Thr | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/17 | 1320/2704 | 1158/2166 | 386/721 | chr16 | 56501420 | |||
chr16:56501468 | A | G | 1 | a0001c0008 | 1 | HG02717.hp1 | synonymous_variant | LOW | c.1110T>C | p.Ala370Ala | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/17 | 1272/2704 | 1110/2166 | 370/721 | chr16 | 56501468 | |||
chr16:56502452 | C | T | 1 | a0001c0007 | 1 | NA18946.hp2 | synonymous_variant | LOW | c.945G>A | p.Arg315Arg | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/17 | 1107/2704 | 945/2166 | 315/721 | chr16 | 56502452 | |||
chr16:56505971 | T | G | 1 | a0001c0010 | 1 | NA18978.hp2 | synonymous_variant | LOW | c.783A>C | p.Ile261Ile | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/17 | 945/2704 | 783/2166 | 261/721 | chr16 | 56505971 |
view | 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 | C | 1 | a0001c0001t0006 | 1 | HG02895.hp1 | 3_prime_UTR_variant | MODIFIER | c.*316A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 17/17 | 316 | chr16 | 56484445 | ||||||
chr16:56484670 | G | A | 1 | a0004c0004t0005 | 1 | NA19084.hp1 | 3_prime_UTR_variant | MODIFIER | c.*91C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 17/17 | 91 | chr16 | 56484670 | ||||||
chr16:56484748 | G | A | 3 | a0002c0002t0004 a0002c0012t0004 a0005c0013t0004 |
11 | HG01346.hp2 HG01433.hp1 HG01952.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*13C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 17/17 | 13 | chr16 | 56484748 | ||||||
chr16:56519902 | A | G | 7 | a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 others(4): Show |
48 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(45): Show |
5_prime_UTR_variant | MODIFIER | c.-40T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/17 | 40 | chr16 | 56519902 | ||||||
chr16:56519904 | A | C | 7 | a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 others(4): Show |
48 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(45): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-42T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/17 | chr16 | 56519904 | |||||||
chr16:56519999 | G | C | 3 | a0001c0001t0003 a0001c0008t0003 a0003c0003t0003 |
14 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
5_prime_UTR_variant | MODIFIER | c.-137C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/17 | 137 | chr16 | 56519999 |
view | 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 | A | 1 | a0001c0001t0001g0169 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2060-151C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 16/16 | chr16 | 56485018 | |||||||
chr16:56485105 | T | C | 1 | a0002c0002t0001g0240 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.2060-238A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 16/16 | chr16 | 56485105 | |||||||
chr16:56485185 | A | G | 75 | a0001c0001t0001g0228 a0002c0002t0001g0003 a0002c0002t0001g0006 others(72): Show |
108 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(105): Show |
intron_variant | MODIFIER | c.2060-318T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 16/16 | chr16 | 56485185 | |||||||
chr16:56485216 | T | G | 1 | a0001c0001t0001g0130 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2060-349A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 16/16 | chr16 | 56485216 | |||||||
chr16:56485511 | T | C | 61 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(58): Show |
87 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.2059+79A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 16/16 | chr16 | 56485511 | |||||||
chr16:56485552 | T | C | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2059+38A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 16/16 | chr16 | 56485552 | |||||||
chr16:56485891 | C | T | 1 | a0004c0004t0002g0067 | 1 | HG03654.hp1 | intron_variant | MODIFIER | c.1911-153G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56485891 | |||||||
chr16:56486102 | T | C | 29 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(26): Show |
48 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(45): Show |
intron_variant | MODIFIER | c.1911-364A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486102 | |||||||
chr16:56486490 | C | A | 4 | a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 others(1): Show |
4 | HG02895.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1911-752G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486490 | |||||||
chr16:56486564 | A | G | 1 | a0002c0002t0002g0062 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1911-826T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486564 | |||||||
chr16:56486621 | T | A | 74 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(71): Show |
107 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(104): Show |
intron_variant | MODIFIER | c.1911-883A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486621 | |||||||
chr16:56486748 | C | CT | 10 | a0001c0001t0001g0033 a0001c0001t0001g0095 a0001c0001t0001g0138 others(7): Show |
11 | HG00673.hp1 HG01934.hp1 HG01952.hp1 others(8): Show |
intron_variant | MODIFIER | c.1911-1011dupA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486748 | |||||||
chr16:56486748 | CT | C | 27 | a0001c0001t0001g0031 a0001c0001t0001g0091 a0001c0001t0001g0137 others(24): Show |
28 | HG01358.hp1 HG01496.hp2 HG01975.hp2 others(25): Show |
intron_variant | MODIFIER | c.1911-1011delA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486748 | |||||||
chr16:56486748 | CTTTTTTT others(3): Show |
C | 1 | a0002c0002t0002g0042 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1911-1020_1911-101 others(14): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486748 | |||||||
chr16:56486867 | A | C | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1911-1129T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486867 | |||||||
chr16:56486962 | C | G | 1 | a0001c0001t0001g0228 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1911-1224G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486962 | |||||||
chr16:56486987 | C | T | 1 | a0001c0001t0001g0081 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.1911-1249G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56486987 | |||||||
chr16:56487010 | C | T | 1 | a0001c0001t0001g0148 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1911-1272G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487010 | |||||||
chr16:56487445 | A | G | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.1911-1707T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487445 | |||||||
chr16:56487496 | C | T | 2 | a0002c0002t0001g0243 a0002c0002t0001g0252 |
2 | HG00735.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.1911-1758G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487496 | |||||||
chr16:56487567 | G | A | 1 | a0002c0002t0001g0230 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1911-1829C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487567 | |||||||
chr16:56487609 | A | G | 42 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(39): Show |
47 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.1911-1871T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487609 | |||||||
chr16:56487730 | C | G | 30 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(27): Show |
33 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(30): Show |
intron_variant | MODIFIER | c.1911-1992G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487730 | |||||||
chr16:56487760 | T | C | 2 | a0002c0002t0001g0243 a0002c0002t0001g0252 |
2 | HG00735.hp1 HG01167.hp1 |
intron_variant | MODIFIER | c.1911-2022A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487760 | |||||||
chr16:56487911 | G | A | 1 | a0002c0002t0002g0047 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1911-2173C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487911 | |||||||
chr16:56487974 | T | C | 3 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 |
3 | HG02622.hp2 HG02717.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1911-2236A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487974 | |||||||
chr16:56487984 | T | C | 2 | a0001c0001t0001g0090 a0001c0001t0001g0091 |
2 | NA18612.hp1 NA18982.hp2 |
intron_variant | MODIFIER | c.1911-2246A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487984 | |||||||
chr16:56487995 | C | G | 42 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(39): Show |
47 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.1911-2257G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56487995 | |||||||
chr16:56488043 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1911-2305C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488043 | |||||||
chr16:56488053 | A | G | 1 | a0001c0001t0001g0185 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.1911-2315T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488053 | |||||||
chr16:56488256 | C | T | 1 | a0002c0002t0001g0247 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.1911-2518G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488256 | |||||||
chr16:56488296 | C | G | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1911-2558G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488296 | |||||||
chr16:56488388 | T | C | 1 | a0001c0007t0001g0128 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.1911-2650A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488388 | |||||||
chr16:56488398 | A | AT | 74 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(71): Show |
107 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(104): Show |
intron_variant | MODIFIER | c.1911-2661dupA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488398 | |||||||
chr16:56488402 | C | T | 1 | a0002c0002t0002g0041 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1911-2664G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488402 | |||||||
chr16:56488531 | T | C | 2 | a0001c0001t0001g0080 a0001c0001t0001g0212 |
2 | HG00140.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1911-2793A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488531 | |||||||
chr16:56488540 | C | T | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.1911-2802G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488540 | |||||||
chr16:56488603 | G | A | 2 | a0001c0001t0001g0076 a0001c0001t0001g0155 |
2 | HG02976.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1911-2865C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488603 | |||||||
chr16:56488773 | C | G | 2 | a0003c0003t0003g0037 a0003c0003t0003g0277 |
3 | HG02258.hp1 NA18522.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1911-3035G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488773 | |||||||
chr16:56488779 | C | T | 1 | a0001c0001t0001g0171 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1911-3041G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488779 | |||||||
chr16:56488829 | T | C | 1 | a0001c0001t0001g0228 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1911-3091A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488829 | |||||||
chr16:56488834 | C | A | 4 | a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 others(1): Show |
4 | HG02895.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.1911-3096G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488834 | |||||||
chr16:56488899 | G | C | 1 | a0004c0004t0002g0063 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1911-3161C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488899 | |||||||
chr16:56488931 | G | C | 41 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(38): Show |
46 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.1911-3193C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488931 | |||||||
chr16:56488931 | G | T | 1 | a0001c0001t0002g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1911-3193C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56488931 | |||||||
chr16:56489087 | T | TA | 23 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(20): Show |
26 | HG00673.hp2 HG00741.hp1 HG01978.hp1 others(23): Show |
intron_variant | MODIFIER | c.1911-3350dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489087 | |||||||
chr16:56489152 | A | C | 1 | a0002c0002t0001g0108 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.1911-3414T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489152 | |||||||
chr16:56489182 | T | TA | 4 | a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show |
5 | HG02559.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1911-3445dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489182 | |||||||
chr16:56489355 | T | A | 2 | a0003c0003t0003g0037 a0003c0003t0003g0277 |
3 | HG02258.hp1 NA18522.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1911-3617A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489355 | |||||||
chr16:56489449 | G | A | 2 | a0001c0001t0003g0279 a0001c0001t0003g0280 |
2 | HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.1911-3711C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489449 | |||||||
chr16:56489504 | A | T | 1 | a0001c0001t0001g0176 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.1911-3766T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489504 | |||||||
chr16:56489614 | T | C | 1 | a0001c0001t0001g0087 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.1911-3876A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489614 | |||||||
chr16:56489693 | G | A | 1 | a0001c0001t0002g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1911-3955C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489693 | |||||||
chr16:56489780 | A | C | 2 | a0001c0001t0001g0013 a0001c0001t0001g0157 |
4 | HG01109.hp2 HG01928.hp2 NA18967.hp1 others(1): Show |
intron_variant | MODIFIER | c.1911-4042T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489780 | |||||||
chr16:56489804 | GA | G | 36 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(33): Show |
56 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(53): Show |
intron_variant | MODIFIER | c.1911-4067delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489804 | |||||||
chr16:56489997 | GTCC | G | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4262_1911-426 others(7): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56489997 | |||||||
chr16:56490002 | A | T | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4264T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490002 | |||||||
chr16:56490006 | A | G | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4268T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490006 | |||||||
chr16:56490007 | C | G | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4269G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490007 | |||||||
chr16:56490008 | T | A | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4270A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490008 | |||||||
chr16:56490009 | C | G | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4271G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490009 | |||||||
chr16:56490010 | C | T | 13 | a0002c0002t0001g0003 a0002c0002t0001g0246 a0002c0002t0001g0251 others(10): Show |
24 | HG00438.hp2 HG01074.hp2 HG02027.hp1 others(21): Show |
intron_variant | MODIFIER | c.1911-4272G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490010 | |||||||
chr16:56490078 | C | T | 1 | a0002c0002t0001g0241 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1911-4340G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490078 | |||||||
chr16:56490128 | G | GCA | 31 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
50 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(47): Show |
intron_variant | MODIFIER | c.1911-4392_1911-439 others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490128 | |||||||
chr16:56490128 | GCA | G | 114 | a0001c0008t0003g0278 a0002c0002t0001g0003 a0002c0002t0001g0006 others(111): Show |
152 | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(149): Show |
intron_variant | MODIFIER | c.1911-4392_1911-439 others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490128 | |||||||
chr16:56490151 | A | C | 39 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(36): Show |
59 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(56): Show |
intron_variant | MODIFIER | c.1911-4413T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490151 | |||||||
chr16:56490153 | A | C | 2 | a0001c0001t0001g0081 a0001c0001t0001g0082 |
2 | HG02109.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1911-4415T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490153 | |||||||
chr16:56490735 | C | T | 1 | a0001c0001t0001g0148 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1911-4997G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490735 | |||||||
chr16:56490767 | A | AT | 29 | a0001c0001t0001g0008 a0001c0001t0001g0072 a0001c0001t0001g0101 others(26): Show |
34 | HG01358.hp1 HG01496.hp2 HG02056.hp2 others(31): Show |
intron_variant | MODIFIER | c.1911-5030dupA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490767 | |||||||
chr16:56490848 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1911-5110C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490848 | |||||||
chr16:56490854 | C | T | 1 | a0001c0001t0002g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1911-5116G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490854 | |||||||
chr16:56490865 | C | T | 1 | a0004c0004t0002g0066 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1911-5127G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490865 | |||||||
chr16:56490911 | G | A | 4 | a0002c0002t0002g0053 a0002c0002t0002g0055 a0002c0002t0002g0060 others(1): Show |
4 | HG01978.hp1 NA18964.hp1 NA18994.hp2 others(1): Show |
intron_variant | MODIFIER | c.1911-5173C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490911 | |||||||
chr16:56490976 | C | T | 217 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(214): Show |
301 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
intron_variant | MODIFIER | c.1911-5238G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56490976 | |||||||
chr16:56491050 | C | T | 2 | a0003c0003t0003g0037 a0003c0003t0003g0277 |
3 | HG02258.hp1 NA18522.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.1911-5312G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491050 | |||||||
chr16:56491119 | G | A | 1 | a0003c0003t0003g0273 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1911-5381C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491119 | |||||||
chr16:56491148 | G | A | 117 | a0001c0001t0001g0228 a0001c0001t0003g0279 a0001c0001t0003g0280 others(114): Show |
155 | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
intron_variant | MODIFIER | c.1911-5410C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491148 | |||||||
chr16:56491154 | G | A | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.1911-5416C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491154 | |||||||
chr16:56491188 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1911-5450C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491188 | |||||||
chr16:56491373 | T | C | 1 | a0001c0001t0001g0079 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1910+5594A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491373 | |||||||
chr16:56491480 | C | T | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1910+5487G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491480 | |||||||
chr16:56491675 | T | C | 41 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(38): Show |
46 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(43): Show |
intron_variant | MODIFIER | c.1910+5292A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491675 | |||||||
chr16:56491697 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1910+5270T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491697 | |||||||
chr16:56491725 | C | CA | 87 | a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0125 others(84): Show |
120 | HG00280.hp1 HG00438.hp2 HG00609.hp2 others(117): Show |
intron_variant | MODIFIER | c.1910+5241dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491725 | |||||||
chr16:56491725 | C | CAA | 6 | a0002c0002t0001g0113 a0002c0002t0001g0249 a0002c0002t0001g0250 others(3): Show |
6 | HG00642.hp1 HG02080.hp1 HG04115.hp2 others(3): Show |
intron_variant | MODIFIER | c.1910+5240_1910+524 others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491725 | |||||||
chr16:56491725 | CA | C | 5 | a0001c0001t0001g0152 a0001c0001t0003g0279 a0001c0001t0003g0280 others(2): Show |
6 | HG02258.hp1 HG02622.hp2 HG02717.hp1 others(3): Show |
intron_variant | MODIFIER | c.1910+5241delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491725 | |||||||
chr16:56491725 | CAAA | C | 28 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(25): Show |
31 | HG00423.hp1 HG00673.hp2 HG01978.hp1 others(28): Show |
intron_variant | MODIFIER | c.1910+5239_1910+524 others(7): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491725 | |||||||
chr16:56491828 | T | A | 1 | a0001c0001t0001g0074 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.1910+5139A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491828 | |||||||
chr16:56491844 | A | G | 3 | a0001c0001t0001g0017 a0001c0001t0001g0184 a0001c0001t0001g0225 |
5 | NA18939.hp1 NA18940.hp1 NA19002.hp1 others(2): Show |
intron_variant | MODIFIER | c.1910+5123T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56491844 | |||||||
chr16:56492038 | A | AAATTTTT others(30): Show |
1 | a0002c0002t0001g0264 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.1910+4892_1910+492 others(41): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492038 | |||||||
chr16:56492157 | C | T | 1 | a0001c0001t0001g0198 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1910+4810G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492157 | |||||||
chr16:56492462 | C | T | 3 | a0003c0003t0003g0271 a0003c0003t0003g0272 a0003c0003t0003g0274 |
3 | HG02280.hp2 HG03486.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1910+4505G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492462 | |||||||
chr16:56492510 | G | A | 1 | a0002c0002t0001g0262 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.1910+4457C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492510 | |||||||
chr16:56492569 | G | A | 22 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(19): Show |
25 | HG00673.hp2 HG01978.hp1 HG02083.hp2 others(22): Show |
intron_variant | MODIFIER | c.1910+4398C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492569 | |||||||
chr16:56492779 | G | A | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.1910+4188C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492779 | |||||||
chr16:56492956 | A | G | 218 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(215): Show |
302 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
intron_variant | MODIFIER | c.1910+4011T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492956 | |||||||
chr16:56492957 | A | C | 218 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(215): Show |
302 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
intron_variant | MODIFIER | c.1910+4010T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492957 | |||||||
chr16:56492962 | A | G | 218 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(215): Show |
302 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(299): Show |
intron_variant | MODIFIER | c.1910+4005T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56492962 | |||||||
chr16:56493208 | G | A | 1 | a0001c0001t0001g0214 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1910+3759C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493208 | |||||||
chr16:56493244 | G | A | 2 | a0001c0001t0001g0022 a0001c0001t0001g0096 |
3 | HG02280.hp1 HG02572.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1910+3723C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493244 | |||||||
chr16:56493271 | A | C | 1 | a0001c0001t0001g0166 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1910+3696T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493271 | |||||||
chr16:56493317 | T | C | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.1910+3650A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493317 | |||||||
chr16:56493383 | C | CA | 65 | a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0029 others(62): Show |
71 | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(68): Show |
intron_variant | MODIFIER | c.1910+3583dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493383 | |||||||
chr16:56493383 | CA | C | 9 | a0001c0001t0001g0089 a0001c0001t0001g0134 a0001c0001t0001g0175 others(6): Show |
9 | HG01074.hp1 HG01515.hp2 NA18946.hp2 others(6): Show |
intron_variant | MODIFIER | c.1910+3583delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493383 | |||||||
chr16:56493383 | CAAAAAA | C | 9 | a0001c0001t0003g0279 a0001c0008t0003g0278 a0003c0003t0003g0037 others(6): Show |
11 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.1910+3578_1910+358 others(10): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493383 | |||||||
chr16:56493479 | A | G | 1 | a0002c0002t0001g0070 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1910+3488T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493479 | |||||||
chr16:56493643 | G | C | 2 | a0001c0001t0001g0022 a0001c0001t0001g0096 |
3 | HG02280.hp1 HG02572.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1910+3324C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493643 | |||||||
chr16:56493805 | A | G | 26 | a0002c0002t0001g0006 a0002c0002t0001g0024 a0002c0002t0001g0026 others(23): Show |
36 | HG00609.hp2 HG01346.hp2 HG01433.hp1 others(33): Show |
intron_variant | MODIFIER | c.1910+3162T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493805 | |||||||
chr16:56493836 | C | A | 1 | a0002c0002t0001g0267 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.1910+3131G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493836 | |||||||
chr16:56493930 | T | C | 9 | a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 others(6): Show |
11 | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.1910+3037A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493930 | |||||||
chr16:56493981 | G | A | 2 | a0001c0001t0001g0222 a0001c0001t0001g0223 |
2 | HG00408.hp2 NA18999.hp2 |
intron_variant | MODIFIER | c.1910+2986C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56493981 | |||||||
chr16:56494125 | A | AT | 48 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0074 others(45): Show |
56 | HG00544.hp2 HG00621.hp2 HG00735.hp1 others(53): Show |
intron_variant | MODIFIER | c.1910+2841dupA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494125 | |||||||
chr16:56494125 | A | ATT | 10 | a0001c0001t0001g0151 a0001c0001t0003g0279 a0001c0001t0003g0280 others(7): Show |
10 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(7): Show |
intron_variant | MODIFIER | c.1910+2840_1910+284 others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494125 | |||||||
chr16:56494257 | C | T | 118 | a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0003g0279 others(115): Show |
156 | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(153): Show |
intron_variant | MODIFIER | c.1910+2710G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494257 | |||||||
chr16:56494258 | G | A | 2 | a0001c0001t0001g0016 a0001c0001t0001g0180 |
4 | HG01123.hp2 HG01168.hp2 HG01169.hp1 others(1): Show |
intron_variant | MODIFIER | c.1910+2709C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494258 | |||||||
chr16:56494285 | A | G | 1 | a0001c0001t0001g0193 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.1910+2682T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494285 | |||||||
chr16:56494286 | T | A | 1 | a0001c0001t0001g0097 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1910+2681A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494286 | |||||||
chr16:56494324 | C | T | 1 | a0001c0001t0001g0148 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1910+2643G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494324 | |||||||
chr16:56494361 | C | G | 1 | a0001c0001t0001g0133 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1910+2606G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494361 | |||||||
chr16:56494385 | A | T | 117 | a0001c0001t0001g0228 a0001c0001t0003g0279 a0001c0001t0003g0280 others(114): Show |
155 | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(152): Show |
intron_variant | MODIFIER | c.1910+2582T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494385 | |||||||
chr16:56494506 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1910+2461C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494506 | |||||||
chr16:56494662 | G | A | 2 | a0002c0002t0001g0231 a0002c0002t0001g0234 |
2 | HG06807.hp2 NA20300.hp2 |
intron_variant | MODIFIER | c.1910+2305C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494662 | |||||||
chr16:56494684 | C | T | 4 | a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show |
5 | HG02559.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.1910+2283G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494684 | |||||||
chr16:56494691 | A | G | 42 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(39): Show |
47 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.1910+2276T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494691 | |||||||
chr16:56494759 | G | A | 1 | a0001c0001t0001g0207 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.1910+2208C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494759 | |||||||
chr16:56494831 | G | A | 1 | a0002c0002t0002g0056 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.1910+2136C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494831 | |||||||
chr16:56494834 | C | T | 1 | a0001c0008t0003g0278 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1910+2133G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494834 | |||||||
chr16:56494887 | G | A | 2 | a0004c0004t0002g0039 a0004c0004t0002g0040 |
2 | HG03688.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.1910+2080C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494887 | |||||||
chr16:56494941 | G | A | 1 | a0002c0002t0001g0251 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1910+2026C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494941 | |||||||
chr16:56494957 | G | A | 9 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0035 others(6): Show |
14 | HG00544.hp2 HG00621.hp1 HG02135.hp2 others(11): Show |
intron_variant | MODIFIER | c.1910+2010C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494957 | |||||||
chr16:56494962 | G | GA | 29 | a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0001g0079 others(26): Show |
33 | HG00738.hp1 HG01099.hp2 HG01167.hp1 others(30): Show |
intron_variant | MODIFIER | c.1910+2004dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494962 | |||||||
chr16:56494962 | GA | G | 10 | a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0150 others(7): Show |
12 | HG00423.hp2 HG00621.hp2 HG00673.hp1 others(9): Show |
intron_variant | MODIFIER | c.1910+2004delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56494962 | |||||||
chr16:56495013 | T | C | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1910+1954A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495013 | |||||||
chr16:56495428 | T | C | 75 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(72): Show |
108 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(105): Show |
intron_variant | MODIFIER | c.1910+1539A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495428 | |||||||
chr16:56495453 | G | T | 9 | a0001c0001t0001g0005 a0001c0001t0001g0071 a0001c0001t0001g0123 others(6): Show |
16 | HG00280.hp2 HG00323.hp1 HG00738.hp1 others(13): Show |
intron_variant | MODIFIER | c.1910+1514C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495453 | |||||||
chr16:56495600 | T | C | 9 | a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 others(6): Show |
11 | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.1910+1367A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495600 | |||||||
chr16:56495766 | A | ATG | 4 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 others(1): Show |
4 | HG02055.hp1 HG02109.hp2 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.1910+1199_1910+120 others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495766 | |||||||
chr16:56495766 | ATG | A | 97 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(94): Show |
143 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(140): Show |
intron_variant | MODIFIER | c.1910+1199_1910+120 others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495766 | |||||||
chr16:56495766 | ATGTG | A | 99 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(96): Show |
135 | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(132): Show |
intron_variant | MODIFIER | c.1910+1197_1910+120 others(8): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495766 | |||||||
chr16:56495766 | ATGTGTG | A | 5 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(2): Show |
5 | HG01099.hp2 HG02622.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1910+1195_1910+120 others(10): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495766 | |||||||
chr16:56495766 | ATGTGTGT others(3): Show |
A | 9 | a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 others(6): Show |
11 | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.1910+1191_1910+120 others(14): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495766 | |||||||
chr16:56495790 | G | A | 2 | a0001c0001t0001g0094 a0001c0001t0001g0095 |
2 | HG01516.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.1910+1177C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495790 | |||||||
chr16:56495798 | A | G | 1 | a0001c0001t0001g0095 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1910+1169T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495798 | |||||||
chr16:56495800 | G | A | 1 | a0001c0001t0001g0095 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1910+1167C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495800 | |||||||
chr16:56495802 | A | G | 64 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(61): Show |
90 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.1910+1165T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495802 | |||||||
chr16:56495922 | G | C | 1 | a0001c0001t0001g0144 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1910+1045C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56495922 | |||||||
chr16:56496006 | T | C | 1 | a0001c0001t0001g0156 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1910+961A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56496006 | |||||||
chr16:56496057 | T | G | 2 | a0002c0002t0001g0255 a0002c0002t0001g0256 |
2 | NA18975.hp2 NA18986.hp2 |
intron_variant | MODIFIER | c.1910+910A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56496057 | |||||||
chr16:56496394 | A | G | 1 | a0002c0002t0002g0048 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.1910+573T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56496394 | |||||||
chr16:56496465 | A | G | 75 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(72): Show |
108 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(105): Show |
intron_variant | MODIFIER | c.1910+502T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56496465 | |||||||
chr16:56496838 | G | A | 11 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0003c0003t0003g0037 others(8): Show |
13 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.1910+129C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56496838 | |||||||
chr16:56496890 | G | T | 1 | a0001c0001t0001g0167 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1910+77C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 15/16 | chr16 | 56496890 | |||||||
chr16:56497191 | G | A | 1 | a0002c0002t0001g0268 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.1798-112C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 14/16 | chr16 | 56497191 | |||||||
chr16:56497273 | C | G | 217 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(214): Show |
301 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
intron_variant | MODIFIER | c.1798-194G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 14/16 | chr16 | 56497273 | |||||||
chr16:56497654 | T | C | 1 | a0002c0002t0002g0054 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1797+89A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 14/16 | chr16 | 56497654 | |||||||
chr16:56497981 | C | CAT | 3 | a0001c0001t0001g0084 a0001c0001t0002g0043 a0001c0007t0001g0128 |
3 | HG02809.hp2 NA18946.hp2 NA18975.hp1 |
intron_variant | MODIFIER | c.1660-103_1660-102d others(4): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 13/16 | chr16 | 56497981 | |||||||
chr16:56498027 | A | G | 1 | a0002c0002t0002g0053 | 1 | NA18964.hp1 | intron_variant | MODIFIER | c.1660-147T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 13/16 | chr16 | 56498027 | |||||||
chr16:56498308 | C | G | 5 | a0001c0001t0001g0022 a0001c0001t0001g0078 a0001c0001t0001g0079 others(2): Show |
6 | HG02257.hp2 HG02280.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.1659+129G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 13/16 | chr16 | 56498308 | |||||||
chr16:56498434 | T | C | 12 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(9): Show |
14 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
splice_region_variant&intron_variant | LOW | c.1659+3A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 13/16 | chr16 | 56498434 | |||||||
chr16:56498805 | T | G | 1 | a0001c0001t0001g0126 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1528-237A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 12/16 | chr16 | 56498805 | |||||||
chr16:56499047 | A | G | 1 | a0001c0001t0001g0068 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1528-479T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 12/16 | chr16 | 56499047 | |||||||
chr16:56499662 | A | G | 1 | a0001c0001t0001g0166 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.1527+116T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 12/16 | chr16 | 56499662 | |||||||
chr16:56500028 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1398-121C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/16 | chr16 | 56500028 | |||||||
chr16:56500300 | T | G | 42 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(39): Show |
47 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.1398-393A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/16 | chr16 | 56500300 | |||||||
chr16:56500624 | C | CA | 20 | a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0184 others(17): Show |
23 | HG00558.hp2 HG00673.hp2 HG01978.hp1 others(20): Show |
intron_variant | MODIFIER | c.1397+229dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/16 | chr16 | 56500624 | |||||||
chr16:56500624 | CA | C | 8 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0145 others(5): Show |
8 | HG00741.hp2 HG02895.hp1 HG02965.hp1 others(5): Show |
intron_variant | MODIFIER | c.1397+229delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/16 | chr16 | 56500624 | |||||||
chr16:56500727 | T | C | 5 | a0002c0002t0002g0011 a0002c0002t0002g0041 a0002c0002t0002g0047 others(2): Show |
7 | HG00673.hp2 HG03704.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.1397+127A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/16 | chr16 | 56500727 | |||||||
chr16:56500778 | G | T | 2 | a0001c0001t0001g0081 a0001c0001t0001g0082 |
2 | HG02109.hp2 HG02886.hp2 |
intron_variant | MODIFIER | c.1397+76C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 11/16 | chr16 | 56500778 | |||||||
chr16:56501036 | G | A | 1 | a0002c0002t0001g0113 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.1226-11C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/16 | chr16 | 56501036 | |||||||
chr16:56501135 | C | G | 7 | a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 others(4): Show |
7 | HG02083.hp2 HG03017.hp1 NA18943.hp2 others(4): Show |
intron_variant | MODIFIER | c.1226-110G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/16 | chr16 | 56501135 | |||||||
chr16:56501147 | A | G | 38 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(35): Show |
58 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(55): Show |
intron_variant | MODIFIER | c.1226-122T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/16 | chr16 | 56501147 | |||||||
chr16:56501281 | CA | C | 9 | a0001c0001t0001g0073 a0003c0003t0003g0037 a0003c0003t0003g0038 others(6): Show |
11 | HG00323.hp2 HG02258.hp1 HG02280.hp2 others(8): Show |
intron_variant | MODIFIER | c.1225+71delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/16 | chr16 | 56501281 | |||||||
chr16:56501310 | T | C | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.1225+43A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 10/16 | chr16 | 56501310 | |||||||
chr16:56501598 | A | G | 31 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(28): Show |
50 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(47): Show |
intron_variant | MODIFIER | c.1081-101T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56501598 | |||||||
chr16:56501701 | A | C | 217 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(214): Show |
301 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
intron_variant | MODIFIER | c.1081-204T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56501701 | |||||||
chr16:56501745 | C | T | 1 | a0004c0004t0002g0063 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.1081-248G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56501745 | |||||||
chr16:56501867 | A | G | 1 | a0002c0002t0001g0163 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.1081-370T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56501867 | |||||||
chr16:56502003 | T | C | 1 | a0002c0002t0001g0114 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.1080+314A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56502003 | |||||||
chr16:56502015 | A | G | 2 | a0002c0002t0001g0257 a0002c0002t0001g0261 |
2 | NA18979.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.1080+302T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56502015 | |||||||
chr16:56502109 | C | A | 2 | a0001c0001t0001g0187 a0001c0001t0001g0188 |
2 | NA18946.hp1 NA19082.hp2 |
intron_variant | MODIFIER | c.1080+208G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56502109 | |||||||
chr16:56502168 | C | T | 40 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0002c0002t0002g0011 others(37): Show |
45 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(42): Show |
intron_variant | MODIFIER | c.1080+149G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56502168 | |||||||
chr16:56502303 | G | A | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1080+14C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 9/16 | chr16 | 56502303 | |||||||
chr16:56502516 | T | G | 1 | a0002c0002t0002g0056 | 1 | NA18987.hp1 | intron_variant | MODIFIER | c.941-60A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 8/16 | chr16 | 56502516 | |||||||
chr16:56502573 | C | T | 1 | a0002c0002t0001g0105 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.940+100G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 8/16 | chr16 | 56502573 | |||||||
chr16:56502577 | A | T | 1 | a0001c0001t0001g0097 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.940+96T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 8/16 | chr16 | 56502577 | |||||||
chr16:56502582 | G | A | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.940+91C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 8/16 | chr16 | 56502582 | |||||||
chr16:56503281 | A | G | 61 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(58): Show |
87 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.805-473T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503281 | |||||||
chr16:56503488 | C | T | 1 | a0002c0002t0001g0262 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.805-680G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503488 | |||||||
chr16:56503590 | A | T | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.805-782T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503590 | |||||||
chr16:56503598 | A | C | 4 | a0001c0001t0001g0028 a0001c0001t0001g0145 a0001c0001t0001g0146 others(1): Show |
5 | NA18964.hp2 NA18968.hp2 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.805-790T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503598 | |||||||
chr16:56503833 | C | T | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.805-1025G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503833 | |||||||
chr16:56503834 | G | A | 1 | a0001c0001t0001g0097 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.805-1026C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503834 | |||||||
chr16:56503876 | G | A | 1 | a0001c0001t0001g0189 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.805-1068C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503876 | |||||||
chr16:56503905 | C | A | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.805-1097G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503905 | |||||||
chr16:56503919 | C | CA | 61 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(58): Show |
87 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(84): Show |
intron_variant | MODIFIER | c.805-1112dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56503919 | |||||||
chr16:56504128 | T | A | 1 | a0002c0002t0001g0026 | 2 | NA19002.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.805-1320A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56504128 | |||||||
chr16:56504128 | T | C | 12 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(9): Show |
14 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.805-1320A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56504128 | |||||||
chr16:56504563 | T | C | 1 | a0001c0001t0001g0224 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.804+1387A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56504563 | |||||||
chr16:56504656 | A | C | 30 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(27): Show |
33 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(30): Show |
intron_variant | MODIFIER | c.804+1294T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56504656 | |||||||
chr16:56504934 | G | C | 5 | a0002c0002t0001g0019 a0002c0002t0001g0229 a0002c0002t0001g0257 others(2): Show |
7 | NA18959.hp2 NA18979.hp1 NA18981.hp2 others(4): Show |
intron_variant | MODIFIER | c.804+1016C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56504934 | |||||||
chr16:56505136 | A | G | 1 | a0001c0001t0001g0197 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.804+814T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505136 | |||||||
chr16:56505531 | T | C | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.804+419A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505531 | |||||||
chr16:56505555 | ATG | A | 22 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(19): Show |
25 | HG00673.hp2 HG01978.hp1 HG02083.hp2 others(22): Show |
intron_variant | MODIFIER | c.804+393_804+394del others(2): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505555 | |||||||
chr16:56505722 | C | T | 1 | a0001c0001t0001g0216 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.804+228G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505722 | |||||||
chr16:56505763 | C | T | 1 | a0001c0001t0002g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.804+187G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505763 | |||||||
chr16:56505771 | G | C | 1 | a0001c0001t0001g0098 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.804+179C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505771 | |||||||
chr16:56505899 | T | A | 1 | a0003c0003t0003g0275 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.804+51A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 7/16 | chr16 | 56505899 | |||||||
chr16:56506070 | C | T | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.718-34G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 6/16 | chr16 | 56506070 | |||||||
chr16:56506278 | G | C | 61 | a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0013 others(58): Show |
83 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(80): Show |
intron_variant | MODIFIER | c.613-54C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56506278 | |||||||
chr16:56506509 | A | C | 1 | a0001c0001t0001g0165 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.613-285T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56506509 | |||||||
chr16:56507590 | G | A | 3 | a0002c0002t0001g0104 a0002c0002t0001g0115 a0002c0002t0001g0116 |
3 | HG01975.hp2 HG01981.hp1 HG02148.hp1 |
intron_variant | MODIFIER | c.613-1366C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507590 | |||||||
chr16:56507632 | G | A | 2 | a0002c0002t0001g0117 a0002c0002t0001g0118 |
2 | NA18944.hp1 NA19066.hp1 |
intron_variant | MODIFIER | c.613-1408C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507632 | |||||||
chr16:56507660 | G | C | 7 | a0003c0003t0003g0038 a0003c0003t0003g0271 a0003c0003t0003g0272 others(4): Show |
8 | HG02280.hp2 HG02717.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.613-1436C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507660 | |||||||
chr16:56507738 | C | T | 3 | a0001c0001t0001g0197 a0001c0001t0001g0202 a0001c0001t0001g0203 |
3 | HG00544.hp1 NA19075.hp2 NA19084.hp2 |
intron_variant | MODIFIER | c.613-1514G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507738 | |||||||
chr16:56507754 | G | A | 9 | a0003c0003t0003g0037 a0003c0003t0003g0038 a0003c0003t0003g0271 others(6): Show |
11 | HG02258.hp1 HG02280.hp2 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.613-1530C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507754 | |||||||
chr16:56507899 | C | T | 76 | a0001c0001t0001g0228 a0002c0002t0001g0003 a0002c0002t0001g0006 others(73): Show |
109 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(106): Show |
intron_variant | MODIFIER | c.613-1675G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507899 | |||||||
chr16:56507924 | C | T | 2 | a0001c0001t0002g0043 a0002c0002t0002g0050 |
2 | HG02809.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.613-1700G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56507924 | |||||||
chr16:56508209 | T | C | 119 | a0001c0001t0001g0215 a0001c0001t0001g0228 a0001c0001t0002g0043 others(116): Show |
157 | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(154): Show |
intron_variant | MODIFIER | c.612+1748A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508209 | |||||||
chr16:56508328 | G | A | 1 | a0001c0001t0001g0099 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.612+1629C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508328 | |||||||
chr16:56508352 | A | T | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.612+1605T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508352 | |||||||
chr16:56508405 | T | A | 12 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(9): Show |
14 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.612+1552A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508405 | |||||||
chr16:56508428 | C | G | 75 | a0001c0001t0001g0228 a0002c0002t0001g0003 a0002c0002t0001g0006 others(72): Show |
108 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(105): Show |
intron_variant | MODIFIER | c.612+1529G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508428 | |||||||
chr16:56508600 | C | T | 1 | a0001c0001t0001g0217 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.612+1357G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508600 | |||||||
chr16:56508683 | T | C | 75 | a0002c0002t0001g0003 a0002c0002t0001g0006 a0002c0002t0001g0007 others(72): Show |
108 | HG00438.hp2 HG00609.hp2 HG00642.hp1 others(105): Show |
intron_variant | MODIFIER | c.612+1274A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508683 | |||||||
chr16:56508701 | AGTGGCGT others(14): Show |
A | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02615.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.612+1235_612+1255d others(23): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508701 | |||||||
chr16:56508707 | G | A | 2 | a0001c0001t0001g0089 a0001c0001t0001g0094 |
2 | HG01515.hp2 HG01516.hp1 |
intron_variant | MODIFIER | c.612+1250C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508707 | |||||||
chr16:56508768 | C | T | 12 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 others(9): Show |
14 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
intron_variant | MODIFIER | c.612+1189G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508768 | |||||||
chr16:56508793 | G | A | 1 | a0001c0001t0002g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.612+1164C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56508793 | |||||||
chr16:56509004 | A | G | 1 | a0005c0013t0004g0160 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.612+953T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509004 | |||||||
chr16:56509030 | T | C | 1 | a0001c0001t0001g0191 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.612+927A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509030 | |||||||
chr16:56509137 | G | C | 13 | a0001c0001t0002g0043 a0001c0001t0003g0279 a0001c0001t0003g0280 others(10): Show |
15 | HG02258.hp1 HG02280.hp2 HG02622.hp2 others(12): Show |
intron_variant | MODIFIER | c.612+820C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509137 | |||||||
chr16:56509155 | T | C | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.612+802A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509155 | |||||||
chr16:56509230 | G | A | 31 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
50 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(47): Show |
intron_variant | MODIFIER | c.612+727C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509230 | |||||||
chr16:56509646 | A | G | 217 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(214): Show |
301 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(298): Show |
intron_variant | MODIFIER | c.612+311T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509646 | |||||||
chr16:56509733 | C | T | 1 | a0001c0001t0002g0043 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.612+224G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509733 | |||||||
chr16:56509915 | A | G | 3 | a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 |
3 | HG00639.hp2 HG01081.hp2 HG01106.hp1 |
intron_variant | MODIFIER | c.612+42T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509915 | |||||||
chr16:56509945 | G | T | 3 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 |
3 | HG02622.hp2 HG02717.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.612+12C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 5/16 | chr16 | 56509945 | |||||||
chr16:56510072 | T | G | 4 | a0001c0001t0001g0031 a0001c0001t0001g0158 a0001c0001t0001g0159 others(1): Show |
5 | HG02559.hp1 HG02572.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.535-38A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510072 | |||||||
chr16:56510198 | A | C | 2 | a0001c0001t0001g0080 a0001c0001t0001g0212 |
2 | HG00140.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.535-164T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510198 | |||||||
chr16:56510279 | C | T | 4 | a0001c0001t0001g0120 a0001c0001t0001g0199 a0001c0001t0001g0200 others(1): Show |
4 | NA18953.hp1 NA18966.hp2 NA19058.hp2 others(1): Show |
intron_variant | MODIFIER | c.535-245G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510279 | |||||||
chr16:56510310 | C | G | 2 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | HG02615.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.535-276G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510310 | |||||||
chr16:56510629 | G | A | 3 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 |
3 | HG02622.hp2 HG02717.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.534+230C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510629 | |||||||
chr16:56510744 | A | G | 5 | a0002c0002t0002g0011 a0002c0002t0002g0041 a0002c0002t0002g0047 others(2): Show |
7 | HG00673.hp2 HG03704.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.534+115T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510744 | |||||||
chr16:56510839 | A | G | 1 | a0002c0002t0001g0231 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.534+20T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 4/16 | chr16 | 56510839 | |||||||
chr16:56511345 | T | A | 1 | a0001c0001t0001g0192 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.346-61A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56511345 | |||||||
chr16:56511435 | C | T | 4 | a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 others(1): Show |
4 | HG02895.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.346-151G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56511435 | |||||||
chr16:56511589 | T | G | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.346-305A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56511589 | |||||||
chr16:56511598 | A | G | 1 | a0002c0002t0001g0105 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.346-314T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56511598 | |||||||
chr16:56511644 | G | T | 1 | a0002c0002t0001g0104 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.346-360C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56511644 | |||||||
chr16:56511748 | C | T | 3 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 |
3 | HG02622.hp2 HG02717.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.346-464G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56511748 | |||||||
chr16:56512003 | T | G | 3 | a0002c0002t0001g0032 a0002c0002t0001g0163 a0002c0002t0001g0164 |
4 | HG02145.hp2 HG03139.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.346-719A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56512003 | |||||||
chr16:56512349 | G | A | 1 | a0001c0001t0001g0193 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.346-1065C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56512349 | |||||||
chr16:56512374 | A | G | 5 | a0002c0002t0002g0011 a0002c0002t0002g0041 a0002c0002t0002g0047 others(2): Show |
7 | HG00673.hp2 HG03704.hp2 NA18950.hp1 others(4): Show |
intron_variant | MODIFIER | c.346-1090T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56512374 | |||||||
chr16:56512945 | G | A | 1 | a0001c0001t0001g0194 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.345+1508C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56512945 | |||||||
chr16:56513221 | G | C | 1 | a0001c0001t0001g0100 | 1 | NA18981.hp1 | intron_variant | MODIFIER | c.345+1232C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513221 | |||||||
chr16:56513251 | T | C | 1 | a0001c0001t0001g0195 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.345+1202A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513251 | |||||||
chr16:56513320 | A | C | 31 | a0001c0001t0001g0030 a0002c0002t0002g0011 a0002c0002t0002g0020 others(28): Show |
35 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.345+1133T>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513320 | |||||||
chr16:56513342 | C | T | 218 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(215): Show |
303 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
intron_variant | MODIFIER | c.345+1111G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513342 | |||||||
chr16:56513603 | A | G | 1 | a0001c0001t0001g0127 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.345+850T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513603 | |||||||
chr16:56513682 | G | C | 1 | a0002c0002t0002g0046 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.345+771C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513682 | |||||||
chr16:56513924 | T | C | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.345+529A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56513924 | |||||||
chr16:56514085 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.345+368C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56514085 | |||||||
chr16:56514365 | C | T | 1 | a0002c0002t0001g0240 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.345+88G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 2/16 | chr16 | 56514365 | |||||||
chr16:56514797 | C | G | 1 | a0002c0002t0002g0046 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.118-117G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56514797 | |||||||
chr16:56514865 | C | T | 60 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(57): Show |
86 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(83): Show |
intron_variant | MODIFIER | c.118-185G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56514865 | |||||||
chr16:56515109 | A | AT | 42 | a0001c0001t0002g0043 a0001c0001t0003g0279 a0001c0001t0003g0280 others(39): Show |
47 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.118-430dupA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515109 | |||||||
chr16:56515415 | G | A | 1 | a0001c0001t0001g0195 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.118-735C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515415 | |||||||
chr16:56515433 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.118-753G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515433 | |||||||
chr16:56515526 | A | G | 1 | a0001c0001t0001g0077 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.118-846T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515526 | |||||||
chr16:56515615 | T | C | 1 | a0003c0003t0003g0276 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.118-935A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515615 | |||||||
chr16:56515762 | G | A | 11 | a0002c0002t0001g0003 a0002c0002t0001g0259 a0002c0002t0001g0262 others(8): Show |
22 | HG00438.hp2 HG02027.hp1 HG02129.hp1 others(19): Show |
intron_variant | MODIFIER | c.118-1082C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515762 | |||||||
chr16:56515980 | T | A | 29 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(26): Show |
32 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.118-1300A>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56515980 | |||||||
chr16:56516126 | C | G | 1 | a0001c0001t0001g0197 | 1 | NA19084.hp2 | intron_variant | MODIFIER | c.118-1446G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516126 | |||||||
chr16:56516149 | T | C | 1 | a0002c0002t0002g0045 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.118-1469A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516149 | |||||||
chr16:56516223 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.118-1543C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516223 | |||||||
chr16:56516239 | C | G | 2 | a0001c0001t0001g0124 a0001c0001t0001g0125 |
2 | HG04199.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.118-1559G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516239 | |||||||
chr16:56516241 | A | G | 2 | a0001c0001t0001g0071 a0001c0001t0001g0123 |
2 | HG00323.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.118-1561T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516241 | |||||||
chr16:56516484 | C | T | 2 | a0001c0001t0003g0279 a0001c0001t0003g0280 |
2 | HG02622.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.118-1804G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516484 | |||||||
chr16:56516499 | G | C | 42 | a0001c0001t0002g0043 a0001c0001t0003g0279 a0001c0001t0003g0280 others(39): Show |
47 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(44): Show |
intron_variant | MODIFIER | c.118-1819C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516499 | |||||||
chr16:56516805 | C | A | 1 | a0001c0001t0001g0227 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.118-2125G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516805 | |||||||
chr16:56516993 | T | TTTATTA | 10 | a0001c0001t0001g0120 a0001c0001t0001g0197 a0001c0001t0001g0198 others(7): Show |
10 | HG00544.hp1 HG02622.hp2 HG03098.hp1 others(7): Show |
intron_variant | MODIFIER | c.118-2319_118-2314d others(8): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56516993 | |||||||
chr16:56517076 | CTCTA | C | 3 | a0002c0002t0001g0237 a0002c0002t0001g0238 a0002c0002t0001g0260 |
3 | NA18992.hp2 NA18994.hp1 NA19005.hp1 |
intron_variant | MODIFIER | c.118-2400_118-2397d others(6): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517076 | |||||||
chr16:56517109 | C | A | 3 | a0002c0002t0004g0027 a0002c0002t0004g0122 a0002c0012t0004g0121 |
4 | NA18941.hp2 NA18962.hp1 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.118-2429G>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517109 | |||||||
chr16:56517110 | G | A | 1 | a0001c0001t0001g0204 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.118-2430C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517110 | |||||||
chr16:56517152 | G | A | 1 | a0002c0002t0001g0269 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.118-2472C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517152 | |||||||
chr16:56517388 | G | A | 2 | a0001c0001t0001g0205 a0001c0001t0001g0206 |
2 | HG03688.hp2 HG04115.hp1 |
intron_variant | MODIFIER | c.117+2358C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517388 | |||||||
chr16:56517519 | C | G | 2 | a0001c0001t0001g0214 a0001c0001t0001g0216 |
2 | HG01891.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.117+2227G>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517519 | |||||||
chr16:56517654 | G | A | 3 | a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 |
3 | HG02083.hp2 NA18979.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.117+2092C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517654 | |||||||
chr16:56517781 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.117+1965T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517781 | |||||||
chr16:56517805 | T | G | 1 | a0002c0002t0002g0060 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.117+1941A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517805 | |||||||
chr16:56517821 | C | CT | 34 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 others(31): Show |
44 | HG00609.hp2 HG01346.hp2 HG01433.hp1 others(41): Show |
intron_variant | MODIFIER | c.117+1924dupA | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517821 | |||||||
chr16:56517840 | G | C | 3 | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0008t0003g0278 |
3 | HG02622.hp2 HG02717.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.117+1906C>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517840 | |||||||
chr16:56517926 | TC | T | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.117+1819delG | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517926 | |||||||
chr16:56517991 | A | G | 2 | a0002c0002t0001g0010 a0002c0002t0001g0235 |
5 | HG02451.hp1 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.117+1755T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56517991 | |||||||
chr16:56518219 | T | G | 1 | a0001c0001t0001g0207 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.117+1527A>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518219 | |||||||
chr16:56518261 | A | G | 43 | a0001c0001t0002g0043 a0001c0001t0003g0279 a0001c0001t0003g0280 others(40): Show |
48 | HG00423.hp1 HG00558.hp2 HG00673.hp2 others(45): Show |
intron_variant | MODIFIER | c.117+1485T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518261 | |||||||
chr16:56518432 | T | C | 2 | a0001c0001t0001g0208 a0001c0001t0001g0209 |
2 | HG00544.hp2 NA19081.hp1 |
intron_variant | MODIFIER | c.117+1314A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518432 | |||||||
chr16:56518670 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.117+1076C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518670 | |||||||
chr16:56518674 | T | C | 1 | a0001c0001t0001g0210 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.117+1072A>G | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518674 | |||||||
chr16:56518768 | A | G | 31 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
50 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(47): Show |
intron_variant | MODIFIER | c.117+978T>C | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518768 | |||||||
chr16:56518771 | A | AGCATTTT others(46): Show |
31 | a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0023 others(28): Show |
50 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(47): Show |
intron_variant | MODIFIER | c.117+974_117+975ins others(53): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518771 | |||||||
chr16:56518907 | G | A | 23 | a0002c0002t0002g0011 a0002c0002t0002g0020 a0002c0002t0002g0041 others(20): Show |
26 | HG00673.hp2 HG00741.hp1 HG01978.hp1 others(23): Show |
intron_variant | MODIFIER | c.117+839C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518907 | |||||||
chr16:56518974 | G | T | 4 | a0002c0002t0001g0231 a0002c0002t0001g0232 a0002c0002t0001g0233 others(1): Show |
4 | HG02895.hp2 HG06807.hp2 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.117+772C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56518974 | |||||||
chr16:56519255 | C | T | 1 | a0001c0001t0001g0021 | 2 | HG01109.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.117+491G>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519255 | |||||||
chr16:56519280 | G | A | 1 | a0001c0001t0001g0211 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.117+466C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519280 | |||||||
chr16:56519320 | G | A | 1 | a0002c0002t0001g0230 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.117+426C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519320 | |||||||
chr16:56519321 | A | T | 1 | a0002c0002t0001g0230 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.117+425T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519321 | |||||||
chr16:56519330 | C | CA | 32 | a0001c0001t0001g0036 a0001c0001t0001g0212 a0001c0001t0001g0213 others(29): Show |
44 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(41): Show |
intron_variant | MODIFIER | c.117+415dupT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519330 | |||||||
chr16:56519330 | C | CAA | 8 | a0002c0002t0001g0270 a0004c0004t0002g0039 a0004c0004t0002g0040 others(5): Show |
8 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(5): Show |
intron_variant | MODIFIER | c.117+414_117+415dup others(2): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519330 | |||||||
chr16:56519330 | CA | C | 19 | a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 others(16): Show |
21 | HG00323.hp2 HG01169.hp2 HG01515.hp1 others(18): Show |
intron_variant | MODIFIER | c.117+415delT | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519330 | |||||||
chr16:56519377 | G | A | 45 | a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0010 others(42): Show |
67 | HG00438.hp2 HG00642.hp1 HG00733.hp1 others(64): Show |
intron_variant | MODIFIER | c.117+369C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519377 | |||||||
chr16:56519439 | A | T | 1 | a0001c0001t0001g0068 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.117+307T>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519439 | |||||||
chr16:56519579 | G | A | 7 | a0004c0004t0002g0039 a0004c0004t0002g0040 a0004c0004t0002g0063 others(4): Show |
7 | HG00423.hp1 HG00558.hp2 HG02135.hp1 others(4): Show |
intron_variant | MODIFIER | c.117+167C>T | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519579 | |||||||
chr16:56519672 | G | T | 2 | a0004c0004t0002g0039 a0004c0004t0002g0040 |
2 | HG03688.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.117+74C>A | BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 1/16 | chr16 | 56519672 |