Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 582 |
| ensemblid | ENSG00000174483.20 |
| hgncid | 966 |
| symbol | BBS1 |
| name | Bardet-Biedl syndrome 1 |
| refseq_nuc | NM_024649.5 |
| refseq_prot | NP_078925.3 |
| ensembl_nuc | ENST00000318312.12 |
| ensembl_prot | ENSP00000317469.7 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 66510635 |
| end | 66533598 |
| strand | + |
| ver | v1.2 |
| region | chr11:66510635-66533598 |
| region5000 | chr11:66505635-66538598 |
| regionname0 | BBS1_chr11_66510635_66533598 |
| regionname5000 | BBS1_chr11_66505635_66538598 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 593 | 362 | 75 | 55 | 173 | 14 | 43 | 136 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| a0002 | 0/0 | 593 | 9 | 8 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| a0003 | 0/0 | 593 | 9 | 8 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| a0004 | 0/0 | 593 | 2 | 0 | 0 | 2 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| a0005 | 0/0 | 548 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(543): Show |
chr11 | 66505635 | 66538598 |
| a0006 | 0/0 | 593 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| a0007 | 0/0 | 593 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| a0008 | 0/0 | 593 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | MAAAS others(588): Show |
chr11 | 66505635 | 66538598 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 1779 | 259 | 62 | 39 | 111 | 11 | 34 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0001c0002 | 0/0 | 1779 | 62 | 3 | 14 | 34 | 3 | 8 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0001c0003 | 0/0 | 1779 | 38 | 9 | 2 | 27 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0001c0007 | 0/0 | 1779 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0001c0009 | 0/0 | 1779 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0001c0013 | 0/0 | 1779 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0002c0005 | 0/0 | 1779 | 9 | 8 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0003c0004 | 0/0 | 1779 | 9 | 8 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0004c0006 | 0/0 | 1779 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0005c0012 | 0/0 | 1779 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0006c0011 | 0/0 | 1779 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0007c0010 | 0/0 | 1779 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 | ||
| a0008c0008 | 0/0 | 1779 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | ATGGC others(1774): Show |
chr11 | 66505635 | 66538598 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3368 | 130 | 10 | 19 | 72 | 3 | 26 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0002 | 0/1 | 3368 | 114 | 48 | 19 | 32 | 7 | 7 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0006 | 0/0 | 3368 | 4 | 0 | 0 | 4 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0007 | 1/0 | 3368 | 2 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0008 | 0/0 | 3368 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0009 | 0/0 | 3368 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0010 | 0/0 | 3368 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0011 | 0/0 | 3368 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0012 | 0/0 | 3368 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0013 | 0/0 | 3378 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3373): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0014 | 0/0 | 3368 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0016 | 0/0 | 3368 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0001t0017 | 0/0 | 3368 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0002t0003 | 0/0 | 3368 | 62 | 3 | 14 | 34 | 3 | 8 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0003t0003 | 0/0 | 3368 | 38 | 9 | 2 | 27 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0007t0001 | 0/0 | 3368 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0009t0002 | 0/0 | 3368 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0001c0013t0002 | 0/0 | 3368 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0002c0005t0003 | 0/0 | 3368 | 2 | 1 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0002c0005t0004 | 0/0 | 3368 | 7 | 7 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0003c0004t0002 | 0/0 | 3368 | 3 | 2 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0003c0004t0005 | 0/0 | 3368 | 5 | 5 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0003c0004t0015 | 0/0 | 3368 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0004c0006t0001 | 0/0 | 3368 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0005c0012t0008 | 0/0 | 3368 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0006c0011t0001 | 0/0 | 3368 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0007c0010t0003 | 0/0 | 3368 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| a0008c0008t0003 | 0/0 | 3368 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | GGTTG others(3363): Show |
chr11 | 66505635 | 66538598 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0002 | 0/0 | 17 | 2 | 5 | 3 | 0 | 7 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0003 | 0/0 | 9 | 4 | 0 | 4 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0007 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0012 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0015 | 0/0 | 4 | 0 | 1 | 1 | 0 | 2 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0016 | 0/0 | 4 | 0 | 2 | 1 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0017 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0018 | 0/0 | 4 | 0 | 3 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0030 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0031 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0035 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0036 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0037 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0038 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0039 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0040 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0041 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0001g0247 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0001 | 0/0 | 16 | 4 | 1 | 10 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0006 | 0/0 | 4 | 1 | 0 | 3 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0008 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0009 | 0/0 | 5 | 3 | 1 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0014 | 0/0 | 4 | 0 | 1 | 0 | 3 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0020 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0022 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0033 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0034 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0042 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0043 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0044 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0056 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0194 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0205 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0228 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0229 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0230 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0241 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0242 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0252 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0002g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0006g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0006g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0006g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0007g0002 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0007g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0008g0218 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0009g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0010g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0011g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0012g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0013g0216 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0014g0232 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0016g0001 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0001t0017g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0004 | 0/0 | 7 | 0 | 4 | 0 | 1 | 2 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0010 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0011 | 0/0 | 4 | 0 | 0 | 4 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0019 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0028 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0029 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0076 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0081 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0087 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0096 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0099 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0002t0003g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0005 | 0/0 | 5 | 0 | 0 | 5 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0013 | 0/0 | 4 | 3 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0026 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0133 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0003t0003g0199 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0007t0001g0002 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0009t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0001c0013t0002g0251 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0003g0047 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0003g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0004g0024 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0004g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0004g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0004g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0004g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0002c0005t0004g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0003c0004t0002g0023 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0003c0004t0002g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0003c0004t0005g0021 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0003c0004t0005g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0003c0004t0005g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0003c0004t0015g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0004c0006t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0004c0006t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0005c0012t0008g0001 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0006c0011t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0007c0010t0003g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| a0008c0008t0003g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0014 | g0232 | EUR | GBR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0018 | EUR | GBR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00280 | hp1 | a0001 | c0002 | t0003 | g0028 | EUR | FIN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0014 | EUR | FIN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00323 | hp1 | a0001 | c0001 | t0001 | g0162 | EUR | FIN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00323 | hp2 | a0001 | c0002 | t0003 | g0019 | EUR | FIN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00408 | hp1 | a0001 | c0003 | t0003 | g0005 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00423 | hp1 | a0001 | c0001 | t0001 | g0189 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00423 | hp2 | a0001 | c0001 | t0011 | g0017 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00438 | hp1 | a0001 | c0001 | t0002 | g0210 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00544 | hp1 | a0001 | c0001 | t0001 | g0235 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0111 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00597 | hp1 | a0001 | c0001 | t0002 | g0212 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0110 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00609 | hp1 | a0001 | c0002 | t0003 | g0249 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0202 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0220 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00642 | hp1 | a0001 | c0001 | t0002 | g0205 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00642 | hp2 | a0001 | c0002 | t0003 | g0088 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00673 | hp1 | a0004 | c0006 | t0001 | g0148 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | CHS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00733 | hp2 | a0001 | c0001 | t0001 | g0166 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00735 | hp1 | a0001 | c0002 | t0003 | g0080 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0180 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0015 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00738 | hp2 | a0001 | c0002 | t0003 | g0090 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0042 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG00741 | hp2 | a0001 | c0002 | t0003 | g0019 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0018 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01069 | hp2 | a0001 | c0002 | t0003 | g0084 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0014 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0002 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01099 | hp1 | a0001 | c0001 | t0002 | g0034 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01099 | hp2 | a0001 | c0002 | t0003 | g0028 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0247 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01106 | hp2 | a0005 | c0012 | t0008 | g0001 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01109 | hp1 | a0002 | c0005 | t0003 | g0047 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01109 | hp2 | a0001 | c0001 | t0002 | g0009 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01167 | hp1 | a0001 | c0002 | t0003 | g0019 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0142 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01175 | hp1 | a0001 | c0001 | t0002 | g0043 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0135 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01192 | hp1 | a0001 | c0002 | t0003 | g0085 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01192 | hp2 | a0001 | c0001 | t0002 | g0146 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01243 | hp1 | a0001 | c0001 | t0002 | g0253 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01243 | hp2 | a0003 | c0004 | t0002 | g0023 | AMR | PUR | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0208 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01255 | hp2 | a0001 | c0002 | t0003 | g0004 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01257 | hp1 | a0001 | c0001 | t0008 | g0218 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0033 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0206 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0033 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0168 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01261 | hp2 | a0001 | c0001 | t0002 | g0131 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01346 | hp2 | a0001 | c0002 | t0003 | g0004 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0036 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01358 | hp2 | a0001 | c0002 | t0003 | g0004 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01361 | hp1 | a0001 | c0002 | t0003 | g0093 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01361 | hp2 | a0001 | c0001 | t0002 | g0222 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0141 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0154 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01496 | hp2 | a0001 | c0003 | t0003 | g0132 | AMR | CLM | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01516 | hp1 | a0001 | c0001 | t0002 | g0224 | EUR | IBS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01516 | hp2 | a0001 | c0002 | t0003 | g0004 | EUR | IBS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0164 | EUR | IBS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01517 | hp2 | a0001 | c0001 | t0002 | g0225 | EUR | IBS | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01884 | hp1 | a0002 | c0005 | t0004 | g0050 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01884 | hp2 | a0001 | c0003 | t0003 | g0199 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01891 | hp2 | a0001 | c0001 | t0002 | g0237 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01928 | hp1 | a0001 | c0002 | t0003 | g0092 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01928 | hp2 | a0001 | c0001 | t0001 | g0016 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01934 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01934 | hp2 | a0001 | c0003 | t0003 | g0013 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0018 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0018 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0002 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02004 | hp2 | a0001 | c0002 | t0003 | g0004 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02015 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02056 | hp1 | a0001 | c0002 | t0003 | g0100 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02056 | hp2 | a0001 | c0002 | t0003 | g0075 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02071 | hp1 | a0001 | c0002 | t0003 | g0079 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02074 | hp1 | a0001 | c0002 | t0003 | g0119 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02074 | hp2 | a0001 | c0003 | t0003 | g0005 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02080 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02080 | hp2 | a0001 | c0003 | t0003 | g0060 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0022 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02132 | hp1 | a0001 | c0002 | t0003 | g0011 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02132 | hp2 | a0001 | c0001 | t0006 | g0001 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0144 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02145 | hp1 | a0001 | c0001 | t0002 | g0042 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0207 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | CDX | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | CDX | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | CDX | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02165 | hp2 | a0001 | c0002 | t0003 | g0248 | EAS | CDX | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02257 | hp1 | a0001 | c0001 | t0002 | g0115 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02257 | hp2 | a0001 | c0002 | t0003 | g0103 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02258 | hp1 | a0003 | c0004 | t0015 | g0023 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02258 | hp2 | a0001 | c0003 | t0003 | g0013 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02280 | hp1 | a0001 | c0001 | t0002 | g0056 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02280 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0001 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02293 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | PEL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02523 | hp1 | a0001 | c0003 | t0003 | g0063 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02523 | hp2 | a0001 | c0001 | t0001 | g0017 | EAS | KHV | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0130 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02572 | hp2 | a0002 | c0005 | t0004 | g0051 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0170 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02602 | hp2 | a0001 | c0002 | t0003 | g0099 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02615 | hp1 | a0001 | c0003 | t0003 | g0108 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02615 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02622 | hp1 | a0001 | c0001 | t0002 | g0252 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02622 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02630 | hp1 | a0003 | c0004 | t0002 | g0238 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02630 | hp2 | a0002 | c0005 | t0004 | g0024 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02647 | hp1 | a0001 | c0001 | t0002 | g0009 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02647 | hp2 | a0001 | c0003 | t0003 | g0107 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02683 | hp1 | a0001 | c0001 | t0002 | g0001 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02683 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0159 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02698 | hp2 | a0001 | c0007 | t0001 | g0002 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02717 | hp1 | a0001 | c0001 | t0002 | g0195 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02717 | hp2 | a0001 | c0001 | t0002 | g0219 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02723 | hp1 | a0003 | c0004 | t0005 | g0021 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02723 | hp2 | a0001 | c0001 | t0002 | g0128 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0015 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0169 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0181 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0182 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02809 | hp1 | a0001 | c0001 | t0009 | g0002 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0177 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02818 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02818 | hp2 | a0001 | c0003 | t0003 | g0133 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0044 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02886 | hp2 | a0002 | c0005 | t0004 | g0024 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02895 | hp1 | a0001 | c0001 | t0001 | g0175 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02895 | hp2 | a0001 | c0001 | t0002 | g0045 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02896 | hp1 | a0002 | c0005 | t0004 | g0052 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0008 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02897 | hp1 | a0001 | c0001 | t0002 | g0046 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02897 | hp2 | a0002 | c0005 | t0004 | g0053 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02922 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0211 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02965 | hp1 | a0001 | c0001 | t0002 | g0044 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02965 | hp2 | a0001 | c0003 | t0003 | g0013 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02976 | hp1 | a0003 | c0004 | t0005 | g0021 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0242 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03017 | hp1 | a0001 | c0001 | t0016 | g0001 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0055 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03098 | hp1 | a0001 | c0003 | t0003 | g0121 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03098 | hp2 | a0002 | c0005 | t0003 | g0048 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03130 | hp1 | a0003 | c0004 | t0005 | g0236 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0231 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0204 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03195 | hp1 | a0001 | c0001 | t0010 | g0032 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0193 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0245 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0054 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03225 | hp1 | a0001 | c0001 | t0002 | g0250 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03225 | hp2 | a0001 | c0001 | t0001 | g0032 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03239 | hp2 | a0001 | c0002 | t0003 | g0096 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0001 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03453 | hp2 | a0001 | c0003 | t0003 | g0127 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03486 | hp2 | a0001 | c0001 | t0002 | g0009 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03491 | hp1 | a0001 | c0002 | t0003 | g0004 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0230 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0178 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03492 | hp2 | a0001 | c0002 | t0003 | g0078 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03516 | hp1 | a0001 | c0001 | t0007 | g0117 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0241 | AFR | ESN | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0113 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03540 | hp2 | a0001 | c0003 | t0003 | g0013 | AFR | GWD | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03579 | hp1 | a0001 | c0013 | t0002 | g0251 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03579 | hp2 | a0003 | c0004 | t0005 | g0021 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0034 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03654 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03669 | hp1 | a0001 | c0001 | t0002 | g0200 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0016 | SAS | PJL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0184 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0179 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03831 | hp1 | a0001 | c0002 | t0003 | g0077 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03831 | hp2 | a0006 | c0011 | t0001 | g0174 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03834 | hp1 | a0001 | c0002 | t0003 | g0004 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03927 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0176 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03942 | hp2 | a0001 | c0002 | t0003 | g0087 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0243 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04115 | hp2 | a0001 | c0001 | t0002 | g0137 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0233 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0196 | SAS | BEB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0223 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0035 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04204 | hp1 | a0001 | c0002 | t0003 | g0076 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0038 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0203 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0015 | SAS | STU | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18522 | hp1 | a0001 | c0001 | t0001 | g0003 | AFR | YRI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18522 | hp2 | a0002 | c0005 | t0004 | g0049 | AFR | YRI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | CHB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18747 | hp2 | a0001 | c0002 | t0003 | g0010 | EAS | CHB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18906 | hp1 | a0001 | c0001 | t0002 | g0246 | AFR | YRI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18906 | hp2 | a0007 | c0010 | t0003 | g0106 | AFR | YRI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18939 | hp1 | a0001 | c0003 | t0003 | g0065 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18940 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18940 | hp2 | a0001 | c0003 | t0003 | g0071 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18941 | hp1 | a0001 | c0001 | t0001 | g0015 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18941 | hp2 | a0001 | c0002 | t0003 | g0124 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18942 | hp1 | a0001 | c0002 | t0003 | g0126 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18945 | hp2 | a0001 | c0003 | t0003 | g0025 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18946 | hp1 | a0001 | c0001 | t0002 | g0213 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18946 | hp2 | a0001 | c0003 | t0003 | g0070 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18947 | hp1 | a0001 | c0001 | t0002 | g0139 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0234 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18948 | hp1 | a0001 | c0003 | t0003 | g0061 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18948 | hp2 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18949 | hp2 | a0001 | c0002 | t0003 | g0010 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18950 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18950 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18952 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18953 | hp1 | a0001 | c0003 | t0003 | g0058 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18953 | hp2 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18954 | hp2 | a0001 | c0002 | t0003 | g0125 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18957 | hp2 | a0001 | c0002 | t0003 | g0029 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18959 | hp1 | a0001 | c0002 | t0003 | g0027 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0031 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18960 | hp2 | a0001 | c0001 | t0006 | g0209 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18962 | hp1 | a0001 | c0003 | t0003 | g0059 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18965 | hp1 | a0001 | c0003 | t0003 | g0069 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18965 | hp2 | a0001 | c0002 | t0003 | g0104 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18966 | hp1 | a0001 | c0003 | t0003 | g0005 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18966 | hp2 | a0001 | c0001 | t0006 | g0221 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18967 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18967 | hp2 | a0001 | c0003 | t0003 | g0072 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18969 | hp1 | a0008 | c0008 | t0003 | g0091 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18970 | hp1 | a0001 | c0003 | t0003 | g0005 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18971 | hp2 | a0001 | c0002 | t0003 | g0029 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18972 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18973 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18973 | hp2 | a0001 | c0001 | t0002 | g0227 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18977 | hp2 | a0001 | c0002 | t0003 | g0101 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18978 | hp1 | a0001 | c0003 | t0003 | g0026 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18978 | hp2 | a0001 | c0001 | t0002 | g0143 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0226 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18979 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18981 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18981 | hp2 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18982 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18982 | hp2 | a0001 | c0001 | t0002 | g0201 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0112 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18983 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18984 | hp1 | a0001 | c0003 | t0003 | g0073 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18984 | hp2 | a0001 | c0009 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18985 | hp1 | a0001 | c0003 | t0003 | g0057 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18987 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18987 | hp2 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18988 | hp1 | a0001 | c0001 | t0001 | g0151 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18988 | hp2 | a0001 | c0002 | t0003 | g0011 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18990 | hp1 | a0001 | c0002 | t0003 | g0122 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18993 | hp2 | a0001 | c0003 | t0003 | g0067 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18994 | hp1 | a0001 | c0002 | t0003 | g0102 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18995 | hp1 | a0001 | c0001 | t0002 | g0020 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0167 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18998 | hp1 | a0001 | c0002 | t0003 | g0082 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18998 | hp2 | a0001 | c0003 | t0003 | g0026 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18999 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18999 | hp2 | a0001 | c0003 | t0003 | g0068 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19000 | hp1 | a0001 | c0002 | t0003 | g0105 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19000 | hp2 | a0001 | c0002 | t0003 | g0095 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19003 | hp2 | a0001 | c0001 | t0002 | g0140 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19005 | hp2 | a0001 | c0001 | t0012 | g0006 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19007 | hp1 | a0001 | c0001 | t0001 | g0016 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19007 | hp2 | a0001 | c0002 | t0003 | g0010 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19009 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19010 | hp2 | a0001 | c0002 | t0003 | g0089 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19011 | hp1 | a0001 | c0003 | t0003 | g0066 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19011 | hp2 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19030 | hp1 | a0001 | c0001 | t0002 | g0118 | AFR | LWK | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19030 | hp2 | a0001 | c0001 | t0002 | g0001 | AFR | LWK | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19043 | hp1 | a0001 | c0001 | t0002 | g0008 | AFR | LWK | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19043 | hp2 | a0001 | c0001 | t0002 | g0006 | AFR | LWK | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19055 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19055 | hp2 | a0001 | c0003 | t0003 | g0064 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19056 | hp1 | a0001 | c0003 | t0003 | g0062 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19056 | hp2 | a0001 | c0002 | t0003 | g0098 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19057 | hp1 | a0001 | c0001 | t0002 | g0217 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19058 | hp2 | a0001 | c0002 | t0003 | g0027 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19060 | hp1 | a0001 | c0002 | t0003 | g0011 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19062 | hp1 | a0001 | c0002 | t0003 | g0010 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19062 | hp2 | a0001 | c0003 | t0003 | g0074 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19065 | hp1 | a0001 | c0001 | t0001 | g0161 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19065 | hp2 | a0004 | c0006 | t0001 | g0003 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19067 | hp1 | a0001 | c0001 | t0002 | g0239 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19067 | hp2 | a0001 | c0003 | t0003 | g0005 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19068 | hp1 | a0001 | c0001 | t0002 | g0214 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19068 | hp2 | a0001 | c0002 | t0003 | g0123 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19070 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19070 | hp2 | a0001 | c0002 | t0003 | g0083 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0165 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19079 | hp2 | a0001 | c0001 | t0006 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0017 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19080 | hp2 | a0001 | c0002 | t0003 | g0011 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19081 | hp1 | a0001 | c0002 | t0003 | g0097 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19082 | hp1 | a0001 | c0001 | t0002 | g0022 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0039 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19083 | hp1 | a0001 | c0001 | t0013 | g0216 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19083 | hp2 | a0001 | c0001 | t0001 | g0186 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19085 | hp1 | a0001 | c0001 | t0002 | g0006 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19085 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19089 | hp1 | a0001 | c0001 | t0002 | g0001 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0007 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19090 | hp1 | a0001 | c0003 | t0003 | g0025 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19090 | hp2 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19240 | hp1 | a0001 | c0001 | t0002 | g0129 | AFR | YRI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA19240 | hp2 | a0001 | c0001 | t0002 | g0215 | AFR | YRI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0002 | AFR | ASW | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0003 | AFR | ASW | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20752 | hp1 | a0001 | c0001 | t0002 | g0014 | EUR | TSI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20752 | hp2 | a0001 | c0001 | t0002 | g0228 | EUR | TSI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0014 | EUR | TSI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20805 | hp2 | a0001 | c0001 | t0002 | g0009 | EUR | TSI | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20905 | hp1 | a0001 | c0001 | t0001 | g0002 | SAS | GIH | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0035 | SAS | GIH | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02109 | hp1 | a0001 | c0002 | t0003 | g0081 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0192 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0244 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG02559 | hp2 | a0001 | c0002 | t0003 | g0086 | AFR | ACB | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03471 | hp1 | a0003 | c0004 | t0002 | g0023 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG03471 | hp2 | a0001 | c0001 | t0002 | g0254 | AFR | MSL | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG06807 | hp1 | a0001 | c0001 | t0002 | g0138 | AFR | USA | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| HG06807 | hp2 | a0003 | c0004 | t0005 | g0116 | AFR | USA | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0187 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA18955 | hp2 | a0001 | c0002 | t0003 | g0094 | EAS | JPT | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0194 | AFR | USA | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0240 | AFR | USA | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA21309 | hp1 | a0001 | c0001 | t0002 | g0136 | AFR | LWK | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| NA21309 | hp2 | a0001 | c0001 | t0017 | g0120 | AFR | LWK | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0002 | g0229 | REF | REF | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0007 | g0002 | REF | REF | BBS1_chr11_66505635_66538598 | BBS1 | chr11 | 66505635 | 66538598 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr11:66514481 | G | A | 1 | a0008 | 1 | NA18969.hp1 | missense_variant | MODERATE | c.235G>A | p.Glu79Lys | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/17 | 260/3368 | 235/1782 | 79/593 | chr11 | 66514481 | |||
| chr11:66519725 | G | A | 1 | a0003 | 9 | HG01243.hp2 HG02258.hp1 HG02630.hp1 others(6): Show |
missense_variant | MODERATE | c.700G>A | p.Glu234Lys | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/17 | 725/3368 | 700/1782 | 234/593 | chr11 | 66519725 | |||
| chr11:66526649 | G | A | 1 | a0007 | 1 | NA18906.hp2 | missense_variant&splice_region_variant | MODERATE | c.1181G>A | p.Gly394Asp | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/17 | 1206/3368 | 1181/1782 | 394/593 | chr11 | 66526649 | |||
| chr11:66529828 | G | A | 1 | a0002 | 9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
missense_variant | MODERATE | c.1349G>A | p.Arg450Gln | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/17 | 1374/3368 | 1349/1782 | 450/593 | chr11 | 66529828 | |||
| chr11:66531681 | A | G | 1 | a0004 | 2 | HG00673.hp1 NA19065.hp2 |
missense_variant | MODERATE | c.1634A>G | p.Asn545Ser | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 16/17 | 1659/3368 | 1634/1782 | 545/593 | chr11 | 66531681 | |||
| chr11:66531692 | G | T | 1 | a0005 | 1 | HG01106.hp2 | stop_gained | HIGH | c.1645G>T | p.Glu549* | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 16/17 | 1670/3368 | 1645/1782 | 549/593 | chr11 | 66531692 | |||
| chr11:66531723 | G | A | 1 | a0006 | 1 | HG03831.hp2 | missense_variant | MODERATE | c.1676G>A | p.Gly559Asp | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 16/17 | 1701/3368 | 1676/1782 | 559/593 | chr11 | 66531723 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr11:66510683 | T | C | 1 | a0001c0007 | 1 | HG02698.hp2 | synonymous_variant | LOW | c.24T>C | p.Asp8Asp | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 1/17 | 49/3368 | 24/1782 | 8/593 | chr11 | 66510683 | |||
| chr11:66514489 | G | A | 1 | a0001c0009 | 1 | NA18984.hp2 | synonymous_variant | LOW | c.243G>A | p.Pro81Pro | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/17 | 268/3368 | 243/1782 | 81/593 | chr11 | 66514489 | |||
| chr11:66514624 | G | A | 4 | a0001c0002 a0001c0003 a0007c0010 others(1): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
synonymous_variant | LOW | c.378G>A | p.Leu126Leu | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/17 | 403/3368 | 378/1782 | 126/593 | chr11 | 66514624 | |||
| chr11:66523792 | C | G | 1 | a0001c0013 | 1 | HG03579.hp1 | synonymous_variant | LOW | c.1020C>G | p.Ser340Ser | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/17 | 1045/3368 | 1020/1782 | 340/593 | chr11 | 66523792 | |||
| chr11:66529892 | C | T | 2 | a0001c0002 a0008c0008 |
63 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(60): Show |
synonymous_variant | LOW | c.1413C>T | p.Leu471Leu | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/17 | 1438/3368 | 1413/1782 | 471/593 | chr11 | 66529892 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr11:66532044 | A | G | 20 | a0001c0001t0002 a0001c0001t0006 a0001c0001t0008 others(17): Show |
246 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(243): Show |
3_prime_UTR_variant | MODIFIER | c.*7A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 7 | chr11 | 66532044 | ||||||
| chr11:66532180 | C | T | 1 | a0001c0001t0011 | 1 | HG00423.hp2 | 3_prime_UTR_variant | MODIFIER | c.*143C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 143 | chr11 | 66532180 | ||||||
| chr11:66532224 | C | T | 1 | a0002c0005t0004 | 7 | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*187C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 187 | chr11 | 66532224 | ||||||
| chr11:66532250 | C | T | 1 | a0001c0001t0010 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*213C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 213 | chr11 | 66532250 | ||||||
| chr11:66532256 | A | G | 1 | a0001c0001t0006 | 4 | HG02132.hp2 NA18960.hp2 NA18966.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*219A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 219 | chr11 | 66532256 | ||||||
| chr11:66532279 | C | T | 1 | a0001c0001t0017 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*242C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 242 | chr11 | 66532279 | ||||||
| chr11:66532465 | G | C | 2 | a0001c0001t0008 a0005c0012t0008 |
2 | HG01106.hp2 HG01257.hp1 |
3_prime_UTR_variant | MODIFIER | c.*428G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 428 | chr11 | 66532465 | ||||||
| chr11:66532511 | G | A | 1 | a0001c0001t0012 | 1 | NA19005.hp2 | 3_prime_UTR_variant | MODIFIER | c.*474G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 474 | chr11 | 66532511 | ||||||
| chr11:66532540 | C | T | 1 | a0001c0001t0016 | 1 | HG03017.hp1 | 3_prime_UTR_variant | MODIFIER | c.*503C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 503 | chr11 | 66532540 | ||||||
| chr11:66532637 | G | C | 1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*600G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 600 | chr11 | 66532637 | ||||||
| chr11:66532638 | C | G | 1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*601C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 601 | chr11 | 66532638 | ||||||
| chr11:66532673 | T | G | 1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*636T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 636 | chr11 | 66532673 | ||||||
| chr11:66532687 | G | T | 1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*650G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 650 | chr11 | 66532687 | ||||||
| chr11:66532723 | G | T | 1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*686G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 686 | chr11 | 66532723 | ||||||
| chr11:66532742 | C | A | 1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*705C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 705 | chr11 | 66532742 | ||||||
| chr11:66532744 | C | CAGCCCAC others(3): Show |
1 | a0001c0001t0013 | 1 | NA19083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*707_*708insAGCCCA others(4): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 708 | chr11 | 66532744 | ||||||
| chr11:66532777 | G | A | 1 | a0001c0001t0014 | 1 | HG00099.hp1 | 3_prime_UTR_variant | MODIFIER | c.*740G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 740 | chr11 | 66532777 | ||||||
| chr11:66532877 | A | G | 7 | a0001c0001t0017 a0001c0002t0003 a0001c0003t0003 others(4): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
3_prime_UTR_variant | MODIFIER | c.*840A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 840 | chr11 | 66532877 | ||||||
| chr11:66532878 | G | A | 1 | a0003c0004t0015 | 1 | HG02258.hp1 | 3_prime_UTR_variant | MODIFIER | c.*841G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 841 | chr11 | 66532878 | ||||||
| chr11:66532887 | C | T | 1 | a0001c0001t0009 | 1 | HG02809.hp1 | 3_prime_UTR_variant | MODIFIER | c.*850C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 850 | chr11 | 66532887 | ||||||
| chr11:66532992 | G | A | 7 | a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(4): Show |
137 | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(134): Show |
3_prime_UTR_variant | MODIFIER | c.*955G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 955 | chr11 | 66532992 | ||||||
| chr11:66533029 | T | C | 1 | a0001c0001t0017 | 1 | NA21309.hp2 | 3_prime_UTR_variant | MODIFIER | c.*992T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 992 | chr11 | 66533029 | ||||||
| chr11:66533252 | T | C | 1 | a0003c0004t0005 | 5 | HG02723.hp1 HG02976.hp1 HG03130.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*1215T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 17/17 | 1215 | chr11 | 66533252 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr11:66510796 | C | A | 2 | a0001c0001t0002g0045 a0001c0001t0002g0046 |
2 | HG02895.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.47+90C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 1/16 | chr11 | 66510796 | |||||||
| chr11:66510955 | A | G | 5 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG01243.hp1 HG02622.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.48-58A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 1/16 | chr11 | 66510955 | |||||||
| chr11:66510983 | A | G | 2 | a0001c0002t0003g0248 a0001c0002t0003g0249 |
2 | HG00609.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.48-30A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 1/16 | chr11 | 66510983 | |||||||
| chr11:66511452 | T | C | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.159+213T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511452 | |||||||
| chr11:66511467 | C | T | 1 | a0001c0001t0001g0247 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.159+228C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511467 | |||||||
| chr11:66511576 | G | T | 4 | a0001c0001t0002g0044 a0001c0001t0002g0244 a0001c0001t0002g0245 others(1): Show |
5 | HG02559.hp1 HG02886.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.159+337G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511576 | |||||||
| chr11:66511756 | T | C | 3 | a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 |
3 | HG02280.hp1 HG03041.hp1 HG03209.hp2 |
intron_variant | MODIFIER | c.159+517T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511756 | |||||||
| chr11:66511790 | G | C | 21 | a0001c0003t0003g0005 a0001c0003t0003g0025 a0001c0003t0003g0026 others(18): Show |
27 | HG00408.hp1 HG02074.hp2 HG02080.hp2 others(24): Show |
intron_variant | MODIFIER | c.159+551G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511790 | |||||||
| chr11:66511825 | A | T | 1 | a0001c0001t0001g0243 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.159+586A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511825 | |||||||
| chr11:66511828 | A | G | 2 | a0001c0001t0002g0241 a0001c0001t0002g0242 |
2 | HG02976.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.159+589A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66511828 | |||||||
| chr11:66512001 | A | T | 1 | a0001c0001t0002g0240 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.159+762A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512001 | |||||||
| chr11:66512003 | A | AAAATATA others(25): Show |
1 | a0001c0002t0003g0119 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.159+765_159+766ins others(32): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512003 | ||||||
| chr11:66512003 | A | T | 53 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 others(50): Show |
78 | HG00099.hp1 HG00438.hp1 HG00544.hp1 others(75): Show |
intron_variant | MODIFIER | c.159+764A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512003 | |||||||
| chr11:66512004 | A | AAAAAATA others(52): Show |
1 | a0001c0001t0002g0250 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.159+765_159+766ins others(59): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512004 | |||||||
| chr11:66512005 | T | A | 88 | a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0031 others(85): Show |
117 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.159+766T>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512005 | |||||||
| chr11:66512007 | T | A | 17 | a0001c0001t0002g0252 a0001c0002t0003g0004 a0001c0002t0003g0075 others(14): Show |
23 | HG00735.hp1 HG01069.hp2 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.159+768T>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512007 | |||||||
| chr11:66512010 | A | ATATATAT others(25): Show |
1 | a0001c0001t0001g0197 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.159+803_159+834dup others(32): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512010 | ||||||
| chr11:66512010 | A | G | 1 | a0001c0002t0003g0119 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.159+771A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512010 | |||||||
| chr11:66512014 | A | G | 1 | a0001c0001t0002g0250 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.159+775A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512014 | |||||||
| chr11:66512020 | G | A | 1 | a0001c0001t0002g0253 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.159+781G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512020 | |||||||
| chr11:66512020 | G | GTGTATAT others(3): Show |
3 | a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 |
3 | HG02056.hp2 HG03831.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.159+805_159+814dup others(10): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512020 | ||||||
| chr11:66512020 | G | GTGTATAT others(35): Show |
2 | a0001c0001t0002g0252 a0001c0013t0002g0251 |
2 | HG02622.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.159+793_159+834dup others(42): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512020 | ||||||
| chr11:66512020 | GTGTATAT others(3): Show |
G | 2 | a0001c0001t0002g0239 a0001c0001t0002g0240 |
2 | NA19067.hp1 NA20300.hp2 |
intron_variant | MODIFIER | c.159+805_159+814del others(10): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512020 | ||||||
| chr11:66512022 | G | A | 1 | a0001c0001t0002g0250 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.159+783G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512022 | |||||||
| chr11:66512025 | T | A | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.159+786T>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512025 | |||||||
| chr11:66512030 | A | G | 1 | a0001c0001t0002g0250 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.159+791A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512030 | |||||||
| chr11:66512044 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.159+805A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512044 | |||||||
| chr11:66512054 | G | GTATATAT others(67): Show |
1 | a0001c0001t0002g0254 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.159+834_159+835ins others(74): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512054 | ||||||
| chr11:66512073 | T | TGTATATA others(221): Show |
2 | a0002c0005t0003g0047 a0002c0005t0003g0048 |
2 | HG01109.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.159+834_159+835ins others(228): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512073 | |||||||
| chr11:66512073 | T | TGTATATG others(227): Show |
4 | a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 others(1): Show |
5 | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(2): Show |
intron_variant | MODIFIER | c.159+834_159+835ins others(234): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512073 | |||||||
| chr11:66512073 | T | TGTATATG others(249): Show |
2 | a0002c0005t0004g0052 a0002c0005t0004g0053 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.159+834_159+835ins others(256): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512073 | |||||||
| chr11:66512075 | T | C | 95 | a0001c0001t0002g0014 a0001c0001t0002g0044 a0001c0001t0002g0045 others(92): Show |
126 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(123): Show |
intron_variant | MODIFIER | c.159+836T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512075 | |||||||
| chr11:66512268 | A | T | 1 | a0001c0001t0001g0196 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.159+1029A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512268 | |||||||
| chr11:66512970 | T | C | 6 | a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 others(3): Show |
7 | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.160-1436T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66512970 | |||||||
| chr11:66512971 | C | CA | 10 | a0001c0001t0001g0134 a0001c0001t0001g0135 a0002c0005t0003g0047 others(7): Show |
11 | HG01109.hp1 HG01175.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.160-1424dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66512971 | ||||||
| chr11:66513436 | A | T | 2 | a0001c0003t0003g0132 a0001c0003t0003g0133 |
2 | HG01496.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.160-970A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513436 | |||||||
| chr11:66513717 | G | A | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.160-689G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513717 | |||||||
| chr11:66513723 | T | C | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.160-683T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513723 | |||||||
| chr11:66513749 | T | C | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.160-657T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513749 | |||||||
| chr11:66513773 | A | C | 90 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(87): Show |
117 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.160-633A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513773 | |||||||
| chr11:66513799 | G | A | 56 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0009 others(53): Show |
87 | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(84): Show |
intron_variant | MODIFIER | c.160-607G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513799 | |||||||
| chr11:66513820 | T | C | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.160-586T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66513820 | |||||||
| chr11:66513933 | T | TGA | 90 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(87): Show |
117 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.160-470_160-469dup others(2): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr11 | 66513933 | ||||||
| chr11:66514067 | A | G | 177 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0008 others(174): Show |
246 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(243): Show |
intron_variant | MODIFIER | c.160-339A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66514067 | |||||||
| chr11:66514306 | T | C | 2 | a0001c0001t0002g0250 a0001c0001t0002g0253 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.160-100T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 3/16 | chr11 | 66514306 | |||||||
| chr11:66514819 | C | CT | 6 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0002g0143 others(3): Show |
6 | HG02615.hp1 HG02647.hp2 NA18906.hp2 others(3): Show |
intron_variant | MODIFIER | c.432+154dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr11 | 66514819 | ||||||
| chr11:66515167 | C | G | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.433-373C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/16 | chr11 | 66515167 | |||||||
| chr11:66515330 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.433-210G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/16 | chr11 | 66515330 | |||||||
| chr11:66515336 | G | A | 1 | a0001c0003t0003g0199 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.433-204G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/16 | chr11 | 66515336 | |||||||
| chr11:66515359 | G | A | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.433-181G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/16 | chr11 | 66515359 | |||||||
| chr11:66515520 | C | G | 1 | a0001c0001t0014g0232 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.433-20C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 4/16 | chr11 | 66515520 | |||||||
| chr11:66515633 | A | G | 1 | a0001c0001t0002g0231 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.479+47A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 5/16 | chr11 | 66515633 | |||||||
| chr11:66515635 | C | A | 1 | a0001c0001t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.479+49C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 5/16 | chr11 | 66515635 | |||||||
| chr11:66515639 | G | C | 1 | a0001c0001t0001g0145 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.479+53G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 5/16 | chr11 | 66515639 | |||||||
| chr11:66515640 | C | G | 1 | a0001c0001t0001g0145 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.480-53C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 5/16 | chr11 | 66515640 | |||||||
| chr11:66515664 | G | A | 1 | a0001c0001t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.480-29G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 5/16 | chr11 | 66515664 | |||||||
| chr11:66515786 | C | T | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.518+55C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 6/16 | chr11 | 66515786 | |||||||
| chr11:66515841 | C | G | 1 | a0001c0001t0002g0230 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.519-20C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 6/16 | chr11 | 66515841 | |||||||
| chr11:66516062 | T | G | 1 | a0001c0001t0001g0134 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.591+129T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516062 | |||||||
| chr11:66516122 | C | CT | 25 | a0001c0001t0001g0114 a0001c0001t0001g0144 a0001c0001t0001g0180 others(22): Show |
29 | HG00423.hp1 HG00735.hp2 HG01167.hp2 others(26): Show |
intron_variant | MODIFIER | c.591+212dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66516122 | ||||||
| chr11:66516122 | CT | C | 67 | a0001c0001t0001g0015 a0001c0001t0001g0145 a0001c0001t0002g0046 others(64): Show |
88 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(85): Show |
intron_variant | MODIFIER | c.591+212delT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66516122 | ||||||
| chr11:66516122 | CTT | C | 21 | a0001c0001t0002g0045 a0001c0002t0003g0027 a0001c0003t0003g0005 others(18): Show |
27 | HG00408.hp1 HG01109.hp1 HG01884.hp2 others(24): Show |
intron_variant | MODIFIER | c.591+211_591+212del others(2): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66516122 | ||||||
| chr11:66516174 | G | A | 1 | a0001c0001t0002g0244 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.591+241G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516174 | |||||||
| chr11:66516176 | A | G | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.591+243A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516176 | |||||||
| chr11:66516345 | C | T | 1 | a0001c0003t0003g0127 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.591+412C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516345 | |||||||
| chr11:66516369 | G | A | 1 | a0003c0004t0002g0238 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.591+436G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516369 | |||||||
| chr11:66516552 | C | G | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.591+619C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516552 | |||||||
| chr11:66516586 | C | T | 5 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG01243.hp1 HG02622.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.591+653C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516586 | |||||||
| chr11:66516587 | G | A | 5 | a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0128 others(2): Show |
5 | HG02572.hp1 HG02723.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.591+654G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516587 | |||||||
| chr11:66516593 | C | T | 1 | a0001c0001t0001g0189 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.591+660C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516593 | |||||||
| chr11:66516657 | C | T | 1 | a0001c0001t0002g0227 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.591+724C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516657 | |||||||
| chr11:66516790 | C | T | 1 | a0001c0001t0001g0179 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.591+857C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516790 | |||||||
| chr11:66516971 | G | A | 1 | a0001c0001t0001g0147 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.591+1038G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66516971 | |||||||
| chr11:66517024 | C | G | 1 | a0001c0001t0002g0118 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.591+1091C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517024 | |||||||
| chr11:66517096 | G | C | 1 | a0004c0006t0001g0148 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.591+1163G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517096 | |||||||
| chr11:66517198 | C | CA | 12 | a0001c0001t0001g0114 a0001c0001t0001g0145 a0001c0001t0001g0150 others(9): Show |
12 | HG00642.hp2 HG00735.hp2 HG02056.hp2 others(9): Show |
intron_variant | MODIFIER | c.591+1276dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66517198 | ||||||
| chr11:66517210 | C | A | 1 | a0001c0001t0001g0149 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.591+1277C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517210 | |||||||
| chr11:66517218 | C | CA | 11 | a0001c0001t0001g0153 a0001c0002t0003g0076 a0002c0005t0003g0047 others(8): Show |
12 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(9): Show |
intron_variant | MODIFIER | c.591+1296dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66517218 | ||||||
| chr11:66517222 | A | C | 1 | a0001c0001t0001g0113 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.591+1289A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517222 | |||||||
| chr11:66517341 | C | T | 6 | a0001c0001t0001g0113 a0001c0001t0001g0175 a0001c0001t0001g0176 others(3): Show |
6 | HG02738.hp1 HG02809.hp2 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.591+1408C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517341 | |||||||
| chr11:66517469 | C | CT | 10 | a0001c0001t0001g0135 a0001c0001t0001g0178 a0001c0001t0002g0118 others(7): Show |
10 | HG01175.hp2 HG01261.hp2 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.591+1552dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66517469 | ||||||
| chr11:66517554 | A | G | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.591+1621A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517554 | |||||||
| chr11:66517617 | A | G | 85 | a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0010 others(82): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.591+1684A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517617 | |||||||
| chr11:66517688 | G | C | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.591+1755G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517688 | |||||||
| chr11:66517691 | C | A | 1 | a0001c0002t0003g0090 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.591+1758C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517691 | |||||||
| chr11:66517779 | A | T | 2 | a0001c0001t0002g0224 a0001c0001t0002g0225 |
2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.592-1838A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517779 | |||||||
| chr11:66517797 | G | A | 177 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0008 others(174): Show |
246 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(243): Show |
intron_variant | MODIFIER | c.592-1820G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517797 | |||||||
| chr11:66517946 | C | CT | 85 | a0001c0001t0002g0130 a0001c0001t0017g0120 a0001c0002t0003g0004 others(82): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.592-1661dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66517946 | ||||||
| chr11:66517962 | C | CT | 13 | a0001c0001t0001g0007 a0001c0001t0001g0041 a0001c0001t0001g0134 others(10): Show |
18 | HG00408.hp2 HG00673.hp2 HG01891.hp2 others(15): Show |
intron_variant | MODIFIER | c.592-1643dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66517962 | ||||||
| chr11:66517962 | CT | C | 17 | a0001c0001t0001g0150 a0001c0001t0002g0202 a0001c0002t0003g0126 others(14): Show |
19 | HG00639.hp1 HG02080.hp2 NA18940.hp2 others(16): Show |
intron_variant | MODIFIER | c.592-1643delT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66517962 | ||||||
| chr11:66517991 | C | T | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.592-1626C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66517991 | |||||||
| chr11:66518002 | G | T | 2 | a0002c0005t0003g0047 a0002c0005t0003g0048 |
2 | HG01109.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.592-1615G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518002 | |||||||
| chr11:66518018 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.592-1599C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518018 | |||||||
| chr11:66518118 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.592-1499C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518118 | |||||||
| chr11:66518193 | G | T | 1 | a0001c0001t0002g0250 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.592-1424G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518193 | |||||||
| chr11:66518202 | C | A | 1 | a0001c0002t0003g0248 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.592-1415C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518202 | |||||||
| chr11:66518280 | C | T | 2 | a0002c0005t0003g0047 a0002c0005t0003g0048 |
2 | HG01109.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.592-1337C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518280 | |||||||
| chr11:66518379 | T | C | 3 | a0001c0001t0002g0252 a0001c0001t0002g0254 a0001c0013t0002g0251 |
3 | HG02622.hp1 HG03471.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.592-1238T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518379 | |||||||
| chr11:66518417 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG02602.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.592-1200C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518417 | |||||||
| chr11:66518517 | G | A | 1 | a0001c0001t0002g0202 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.592-1100G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518517 | |||||||
| chr11:66518580 | C | T | 1 | a0001c0001t0007g0117 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.592-1037C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518580 | |||||||
| chr11:66518757 | C | CT | 59 | a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0185 others(56): Show |
79 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.592-842dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66518757 | ||||||
| chr11:66518757 | C | CTT | 25 | a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0002t0003g0102 others(22): Show |
31 | HG00408.hp1 HG01243.hp1 HG02074.hp2 others(28): Show |
intron_variant | MODIFIER | c.592-843_592-842dup others(2): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66518757 | ||||||
| chr11:66518757 | CT | C | 6 | a0001c0001t0001g0109 a0001c0001t0001g0145 a0001c0001t0001g0169 others(3): Show |
6 | HG02735.hp2 HG04228.hp1 NA18953.hp2 others(3): Show |
intron_variant | MODIFIER | c.592-842delT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr11 | 66518757 | ||||||
| chr11:66518832 | A | G | 1 | a0001c0001t0006g0221 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.592-785A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518832 | |||||||
| chr11:66518894 | A | G | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.592-723A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518894 | |||||||
| chr11:66518906 | T | C | 177 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0008 others(174): Show |
246 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(243): Show |
intron_variant | MODIFIER | c.592-711T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66518906 | |||||||
| chr11:66519091 | A | G | 5 | a0001c0002t0003g0027 a0001c0002t0003g0029 a0001c0002t0003g0089 others(2): Show |
7 | NA18957.hp2 NA18959.hp1 NA18965.hp2 others(4): Show |
intron_variant | MODIFIER | c.592-526A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66519091 | |||||||
| chr11:66519156 | G | A | 85 | a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0010 others(82): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.592-461G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66519156 | |||||||
| chr11:66519173 | G | T | 2 | a0002c0005t0003g0047 a0002c0005t0003g0048 |
2 | HG01109.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.592-444G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66519173 | |||||||
| chr11:66519358 | G | A | 1 | a0001c0001t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.592-259G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66519358 | |||||||
| chr11:66519387 | T | C | 2 | a0001c0002t0003g0248 a0001c0002t0003g0249 |
2 | HG00609.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.592-230T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 7/16 | chr11 | 66519387 | |||||||
| chr11:66519901 | C | T | 1 | a0001c0001t0002g0142 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.723+153C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66519901 | |||||||
| chr11:66519907 | T | C | 1 | a0001c0001t0002g0204 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.723+159T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66519907 | |||||||
| chr11:66519912 | G | A | 85 | a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0010 others(82): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.723+164G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66519912 | |||||||
| chr11:66520045 | A | G | 46 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(43): Show |
63 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.723+297A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520045 | |||||||
| chr11:66520115 | G | A | 4 | a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0224 others(1): Show |
4 | HG00642.hp1 HG01258.hp1 HG01516.hp1 others(1): Show |
intron_variant | MODIFIER | c.723+367G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520115 | |||||||
| chr11:66520170 | A | T | 1 | a0001c0001t0001g0145 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.723+422A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520170 | |||||||
| chr11:66520318 | T | C | 2 | a0001c0001t0001g0154 a0001c0001t0001g0247 |
2 | HG01106.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.723+570T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520318 | |||||||
| chr11:66520652 | T | C | 90 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(87): Show |
117 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.724-618T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520652 | |||||||
| chr11:66520718 | A | G | 1 | a0001c0001t0001g0167 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.724-552A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520718 | |||||||
| chr11:66520729 | C | T | 1 | a0001c0001t0002g0118 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.724-541C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520729 | |||||||
| chr11:66520834 | A | G | 1 | a0001c0003t0003g0108 | 1 | HG02615.hp1 | intron_variant | MODIFIER | c.724-436A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520834 | |||||||
| chr11:66520965 | C | T | 11 | a0001c0001t0002g0014 a0001c0001t0002g0044 a0001c0001t0002g0045 others(8): Show |
15 | HG00280.hp2 HG01074.hp1 HG01261.hp2 others(12): Show |
intron_variant | MODIFIER | c.724-305C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66520965 | |||||||
| chr11:66521013 | C | T | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.724-257C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66521013 | |||||||
| chr11:66521203 | T | G | 2 | a0001c0001t0001g0169 a0001c0001t0001g0170 |
2 | HG02602.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.724-67T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66521203 | |||||||
| chr11:66521262 | G | C | 87 | a0001c0001t0002g0250 a0001c0001t0002g0253 a0001c0001t0017g0120 others(84): Show |
114 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(111): Show |
splice_region_variant&intron_variant | LOW | c.724-8G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 8/16 | chr11 | 66521262 | |||||||
| chr11:66521643 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.830+267C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66521643 | |||||||
| chr11:66521761 | T | C | 2 | a0001c0001t0002g0250 a0001c0001t0002g0253 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.830+385T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66521761 | |||||||
| chr11:66521774 | G | A | 1 | a0001c0001t0001g0151 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.830+398G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66521774 | |||||||
| chr11:66521900 | G | A | 2 | a0001c0001t0001g0171 a0001c0001t0001g0186 |
2 | NA18939.hp2 NA19083.hp2 |
intron_variant | MODIFIER | c.830+524G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66521900 | |||||||
| chr11:66521904 | C | CA | 89 | a0001c0001t0001g0016 a0001c0001t0001g0113 a0001c0001t0001g0135 others(86): Show |
122 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(119): Show |
intron_variant | MODIFIER | c.830+551dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr11 | 66521904 | ||||||
| chr11:66521904 | C | CAA | 21 | a0001c0002t0003g0027 a0001c0002t0003g0075 a0001c0002t0003g0078 others(18): Show |
22 | HG00735.hp1 HG01192.hp1 HG01361.hp1 others(19): Show |
intron_variant | MODIFIER | c.830+550_830+551dup others(2): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr11 | 66521904 | ||||||
| chr11:66521940 | C | T | 5 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG01243.hp1 HG02622.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.830+564C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66521940 | |||||||
| chr11:66521941 | G | A | 1 | a0001c0001t0001g0149 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.830+565G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66521941 | |||||||
| chr11:66522027 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.830+651C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522027 | |||||||
| chr11:66522094 | G | A | 2 | a0002c0005t0003g0047 a0002c0005t0003g0048 |
2 | HG01109.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.830+718G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522094 | |||||||
| chr11:66522144 | G | T | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.830+768G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522144 | |||||||
| chr11:66522165 | C | A | 6 | a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 others(3): Show |
7 | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.830+789C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522165 | |||||||
| chr11:66522195 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.830+819C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522195 | |||||||
| chr11:66522256 | A | C | 2 | a0001c0003t0003g0132 a0001c0003t0003g0133 |
2 | HG01496.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.830+880A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522256 | |||||||
| chr11:66522259 | T | A | 2 | a0001c0003t0003g0132 a0001c0003t0003g0133 |
2 | HG01496.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.830+883T>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522259 | |||||||
| chr11:66522260 | T | G | 2 | a0001c0001t0002g0207 a0001c0001t0002g0211 |
2 | HG02145.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.830+884T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522260 | |||||||
| chr11:66522262 | C | T | 2 | a0001c0001t0002g0034 a0001c0001t0002g0220 |
3 | HG00639.hp2 HG01099.hp1 HG03654.hp1 |
intron_variant | MODIFIER | c.830+886C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522262 | |||||||
| chr11:66522281 | A | G | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.830+905A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522281 | |||||||
| chr11:66522282 | G | A | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.830+906G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522282 | |||||||
| chr11:66522297 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.830+921C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522297 | |||||||
| chr11:66522336 | C | CT | 13 | a0001c0001t0001g0184 a0001c0001t0002g0210 a0001c0001t0002g0250 others(10): Show |
13 | HG00438.hp1 HG00735.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.830+974dupT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr11 | 66522336 | ||||||
| chr11:66522336 | CT | C | 12 | a0001c0001t0001g0151 a0001c0001t0002g0014 a0001c0001t0002g0044 others(9): Show |
16 | HG00280.hp2 HG01074.hp1 HG01261.hp2 others(13): Show |
intron_variant | MODIFIER | c.830+974delT | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr11 | 66522336 | ||||||
| chr11:66522416 | C | T | 1 | a0001c0001t0002g0242 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.830+1040C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522416 | |||||||
| chr11:66522505 | A | C | 1 | a0001c0001t0001g0112 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.831-951A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522505 | |||||||
| chr11:66522593 | T | G | 85 | a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0010 others(82): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.831-863T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522593 | |||||||
| chr11:66522594 | T | C | 85 | a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0010 others(82): Show |
112 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(109): Show |
intron_variant | MODIFIER | c.831-862T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522594 | |||||||
| chr11:66522595 | C | T | 2 | a0001c0002t0003g0084 a0001c0002t0003g0085 |
2 | HG01069.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.831-861C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522595 | |||||||
| chr11:66522762 | C | T | 4 | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0001g0166 others(1): Show |
4 | HG00733.hp2 HG01192.hp2 NA18969.hp2 others(1): Show |
intron_variant | MODIFIER | c.831-694C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522762 | |||||||
| chr11:66522772 | T | C | 1 | a0001c0001t0002g0205 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.831-684T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522772 | |||||||
| chr11:66522964 | G | A | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.831-492G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66522964 | |||||||
| chr11:66523320 | G | A | 4 | a0001c0003t0003g0013 a0001c0003t0003g0121 a0001c0003t0003g0127 others(1): Show |
7 | HG01884.hp2 HG01934.hp2 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.831-136G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66523320 | |||||||
| chr11:66523331 | A | C | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.831-125A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66523331 | |||||||
| chr11:66523361 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.831-95C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 9/16 | chr11 | 66523361 | |||||||
| chr11:66523603 | C | G | 1 | a0001c0001t0001g0040 | 2 | HG02015.hp1 HG02135.hp2 |
intron_variant | MODIFIER | c.951+27C>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 10/16 | chr11 | 66523603 | |||||||
| chr11:66524089 | A | G | 184 | a0001c0001t0001g0003 a0001c0001t0001g0032 a0001c0001t0001g0040 others(181): Show |
260 | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(257): Show |
intron_variant | MODIFIER | c.1110+207A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524089 | |||||||
| chr11:66524258 | C | A | 6 | a0001c0003t0003g0026 a0001c0003t0003g0059 a0001c0003t0003g0069 others(3): Show |
7 | NA18940.hp2 NA18946.hp2 NA18962.hp1 others(4): Show |
intron_variant | MODIFIER | c.1110+376C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524258 | |||||||
| chr11:66524279 | T | TA | 12 | a0001c0001t0017g0120 a0001c0002t0003g0004 a0001c0002t0003g0078 others(9): Show |
18 | HG00642.hp2 HG00735.hp1 HG01069.hp2 others(15): Show |
intron_variant | MODIFIER | c.1110+411dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr11 | 66524279 | ||||||
| chr11:66524287 | A | G | 6 | a0002c0005t0004g0024 a0002c0005t0004g0049 a0002c0005t0004g0050 others(3): Show |
7 | HG01884.hp1 HG02572.hp2 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.1110+405A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524287 | |||||||
| chr11:66524339 | G | T | 6 | a0001c0002t0003g0095 a0001c0002t0003g0122 a0001c0002t0003g0123 others(3): Show |
6 | NA18941.hp2 NA18942.hp1 NA18954.hp2 others(3): Show |
intron_variant | MODIFIER | c.1110+457G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524339 | |||||||
| chr11:66524420 | T | G | 2 | a0001c0001t0001g0035 a0001c0001t0001g0176 |
3 | HG03927.hp2 HG04199.hp2 NA20905.hp2 |
intron_variant | MODIFIER | c.1110+538T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524420 | |||||||
| chr11:66524892 | TAA | T | 2 | a0001c0001t0001g0018 a0001c0001t0001g0164 |
5 | HG00099.hp2 HG01069.hp1 HG01517.hp1 others(2): Show |
intron_variant | MODIFIER | c.1110+1014_1110+101 others(6): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr11 | 66524892 | ||||||
| chr11:66524900 | A | C | 2 | a0001c0001t0002g0250 a0001c0001t0002g0253 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1110+1018A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524900 | |||||||
| chr11:66524923 | G | A | 1 | a0001c0003t0003g0199 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1110+1041G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524923 | |||||||
| chr11:66524966 | C | T | 1 | a0001c0001t0001g0177 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1110+1084C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66524966 | |||||||
| chr11:66525057 | G | A | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1111-1066G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525057 | |||||||
| chr11:66525199 | C | CA | 24 | a0001c0001t0001g0036 a0001c0001t0001g0183 a0001c0001t0002g0009 others(21): Show |
35 | HG00408.hp1 HG00741.hp1 HG01109.hp2 others(32): Show |
intron_variant | MODIFIER | c.1111-909dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr11 | 66525199 | ||||||
| chr11:66525199 | C | CAA | 14 | a0001c0003t0003g0026 a0001c0003t0003g0057 a0001c0003t0003g0059 others(11): Show |
16 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(13): Show |
intron_variant | MODIFIER | c.1111-910_1111-909d others(4): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr11 | 66525199 | ||||||
| chr11:66525216 | C | T | 4 | a0001c0001t0001g0012 a0001c0001t0001g0111 a0001c0001t0001g0114 others(1): Show |
7 | HG00544.hp2 HG02155.hp2 NA18957.hp1 others(4): Show |
intron_variant | MODIFIER | c.1111-907C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525216 | |||||||
| chr11:66525330 | G | C | 1 | a0001c0002t0003g0028 | 2 | HG00280.hp1 HG01099.hp2 |
intron_variant | MODIFIER | c.1111-793G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525330 | |||||||
| chr11:66525376 | C | A | 5 | a0001c0002t0003g0092 a0001c0002t0003g0097 a0001c0002t0003g0098 others(2): Show |
5 | HG01928.hp1 NA18969.hp1 NA18994.hp1 others(2): Show |
intron_variant | MODIFIER | c.1111-747C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525376 | |||||||
| chr11:66525416 | ATT | A | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.1111-706_1111-705d others(4): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525416 | |||||||
| chr11:66525436 | C | T | 1 | a0001c0001t0002g0219 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.1111-687C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525436 | |||||||
| chr11:66525437 | A | G | 57 | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0009 others(54): Show |
88 | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(85): Show |
intron_variant | MODIFIER | c.1111-686A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525437 | |||||||
| chr11:66525512 | G | A | 1 | a0001c0001t0002g0208 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.1111-611G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525512 | |||||||
| chr11:66525529 | A | C | 1 | a0001c0001t0001g0110 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.1111-594A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525529 | |||||||
| chr11:66525565 | A | G | 1 | a0001c0001t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1111-558A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525565 | |||||||
| chr11:66525617 | T | C | 1 | a0001c0001t0002g0118 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.1111-506T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525617 | |||||||
| chr11:66525802 | A | G | 46 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(43): Show |
63 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(60): Show |
intron_variant | MODIFIER | c.1111-321A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66525802 | |||||||
| chr11:66526030 | C | T | 1 | a0002c0005t0004g0050 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.1111-93C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66526030 | |||||||
| chr11:66526056 | A | G | 1 | a0001c0002t0003g0086 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.1111-67A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 11/16 | chr11 | 66526056 | |||||||
| chr11:66526298 | G | T | 1 | a0001c0001t0002g0137 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.1180+106G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 12/16 | chr11 | 66526298 | |||||||
| chr11:66526308 | T | C | 90 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(87): Show |
117 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.1180+116T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 12/16 | chr11 | 66526308 | |||||||
| chr11:66526384 | G | C | 3 | a0001c0001t0001g0017 a0001c0001t0001g0149 a0001c0001t0011g0017 |
5 | HG00423.hp2 HG02523.hp2 NA19010.hp1 others(2): Show |
intron_variant | MODIFIER | c.1180+192G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 12/16 | chr11 | 66526384 | |||||||
| chr11:66526423 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.1181-226G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 12/16 | chr11 | 66526423 | |||||||
| chr11:66526887 | C | T | 1 | a0001c0001t0002g0252 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1339+80C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66526887 | |||||||
| chr11:66527198 | C | T | 27 | a0001c0002t0003g0010 a0001c0002t0003g0011 a0001c0002t0003g0019 others(24): Show |
38 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(35): Show |
intron_variant | MODIFIER | c.1339+391C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66527198 | |||||||
| chr11:66527207 | C | CA | 37 | a0001c0001t0001g0170 a0001c0001t0001g0196 a0001c0001t0002g0054 others(34): Show |
47 | HG00408.hp1 HG01109.hp1 HG01496.hp2 others(44): Show |
intron_variant | MODIFIER | c.1339+413dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66527207 | ||||||
| chr11:66527207 | CA | C | 7 | a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0162 others(4): Show |
7 | HG00323.hp1 HG01257.hp1 HG01517.hp1 others(4): Show |
intron_variant | MODIFIER | c.1339+413delA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66527207 | ||||||
| chr11:66527219 | A | G | 2 | a0001c0001t0002g0250 a0001c0001t0002g0253 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1339+412A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66527219 | |||||||
| chr11:66527247 | A | G | 2 | a0001c0001t0002g0250 a0001c0001t0002g0253 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1339+440A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66527247 | |||||||
| chr11:66527668 | C | CA | 20 | a0001c0001t0001g0037 a0001c0001t0001g0135 a0001c0001t0001g0157 others(17): Show |
21 | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(18): Show |
intron_variant | MODIFIER | c.1339+884dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66527668 | ||||||
| chr11:66527668 | CA | C | 53 | a0001c0001t0001g0039 a0001c0001t0001g0134 a0001c0001t0001g0172 others(50): Show |
73 | HG00280.hp1 HG00323.hp2 HG00609.hp1 others(70): Show |
intron_variant | MODIFIER | c.1339+884delA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66527668 | ||||||
| chr11:66527889 | A | G | 21 | a0001c0003t0003g0005 a0001c0003t0003g0025 a0001c0003t0003g0026 others(18): Show |
27 | HG00408.hp1 HG02074.hp2 HG02080.hp2 others(24): Show |
intron_variant | MODIFIER | c.1339+1082A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66527889 | |||||||
| chr11:66527954 | G | A | 4 | a0001c0003t0003g0013 a0001c0003t0003g0121 a0001c0003t0003g0127 others(1): Show |
7 | HG01884.hp2 HG01934.hp2 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1339+1147G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66527954 | |||||||
| chr11:66528028 | C | T | 1 | a0001c0002t0003g0019 | 3 | HG00323.hp2 HG00741.hp2 HG01167.hp1 |
intron_variant | MODIFIER | c.1339+1221C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528028 | |||||||
| chr11:66528141 | A | C | 1 | a0001c0001t0002g0033 | 2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.1339+1334A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528141 | |||||||
| chr11:66528212 | G | A | 2 | a0001c0001t0002g0245 a0001c0001t0002g0246 |
2 | HG03209.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1339+1405G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528212 | |||||||
| chr11:66528281 | C | A | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1339+1474C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528281 | |||||||
| chr11:66528643 | C | T | 27 | a0001c0003t0003g0005 a0001c0003t0003g0013 a0001c0003t0003g0025 others(24): Show |
36 | HG00408.hp1 HG01496.hp2 HG01884.hp2 others(33): Show |
intron_variant | MODIFIER | c.1340-1176C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528643 | |||||||
| chr11:66528650 | G | A | 1 | a0001c0001t0002g0213 | 1 | NA18946.hp1 | intron_variant | MODIFIER | c.1340-1169G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528650 | |||||||
| chr11:66528735 | G | A | 2 | a0001c0001t0002g0250 a0001c0001t0002g0253 |
2 | HG01243.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1340-1084G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528735 | |||||||
| chr11:66528797 | C | T | 8 | a0002c0005t0003g0047 a0002c0005t0003g0048 a0002c0005t0004g0024 others(5): Show |
9 | HG01109.hp1 HG01884.hp1 HG02572.hp2 others(6): Show |
intron_variant | MODIFIER | c.1340-1022C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528797 | |||||||
| chr11:66528839 | G | A | 1 | a0001c0001t0001g0041 | 2 | HG00673.hp2 HG02129.hp1 |
intron_variant | MODIFIER | c.1340-980G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528839 | |||||||
| chr11:66528854 | G | C | 2 | a0001c0001t0001g0179 a0001c0001t0001g0233 |
2 | HG03688.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.1340-965G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528854 | |||||||
| chr11:66528885 | T | C | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1340-934T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528885 | |||||||
| chr11:66528892 | C | T | 1 | a0001c0001t0017g0120 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1340-927C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528892 | |||||||
| chr11:66528924 | C | T | 1 | a0001c0001t0001g0181 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.1340-895C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66528924 | |||||||
| chr11:66528968 | C | CA | 75 | a0001c0001t0001g0038 a0001c0001t0001g0111 a0001c0001t0001g0114 others(72): Show |
95 | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(92): Show |
intron_variant | MODIFIER | c.1340-830dupA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66528968 | ||||||
| chr11:66528968 | C | CAA | 25 | a0001c0001t0001g0186 a0001c0002t0003g0079 a0001c0003t0003g0005 others(22): Show |
33 | HG00408.hp1 HG01496.hp2 HG01884.hp2 others(30): Show |
intron_variant | MODIFIER | c.1340-831_1340-830d others(4): Show |
BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66528968 | ||||||
| chr11:66528968 | CA | C | 4 | a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0172 others(1): Show |
6 | HG00673.hp2 HG02129.hp1 HG03516.hp1 others(3): Show |
intron_variant | MODIFIER | c.1340-830delA | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr11 | 66528968 | ||||||
| chr11:66529098 | T | C | 90 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(87): Show |
117 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(114): Show |
intron_variant | MODIFIER | c.1340-721T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529098 | |||||||
| chr11:66529128 | C | T | 1 | a0001c0002t0003g0123 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.1340-691C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529128 | |||||||
| chr11:66529156 | G | A | 5 | a0001c0001t0002g0194 a0001c0001t0002g0241 a0001c0001t0002g0242 others(2): Show |
5 | HG01496.hp2 HG02818.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.1340-663G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529156 | |||||||
| chr11:66529442 | A | G | 1 | a0001c0001t0013g0216 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1340-377A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529442 | |||||||
| chr11:66529447 | T | G | 1 | a0001c0001t0002g0139 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.1340-372T>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529447 | |||||||
| chr11:66529448 | C | A | 1 | a0001c0001t0002g0139 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.1340-371C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529448 | |||||||
| chr11:66529516 | G | T | 1 | a0001c0001t0013g0216 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1340-303G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529516 | |||||||
| chr11:66529611 | G | A | 1 | a0001c0002t0003g0096 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1340-208G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529611 | |||||||
| chr11:66529642 | C | A | 1 | a0001c0001t0013g0216 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1340-177C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529642 | |||||||
| chr11:66529645 | C | A | 1 | a0001c0013t0002g0251 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1340-174C>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529645 | |||||||
| chr11:66529739 | C | T | 2 | a0001c0001t0002g0245 a0001c0001t0002g0246 |
2 | HG03209.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.1340-80C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 13/16 | chr11 | 66529739 | |||||||
| chr11:66530007 | G | A | 1 | a0001c0001t0001g0157 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.1473+55G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530007 | |||||||
| chr11:66530141 | C | T | 5 | a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 others(2): Show |
5 | HG01243.hp1 HG02622.hp1 HG03225.hp1 others(2): Show |
intron_variant | MODIFIER | c.1473+189C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530141 | |||||||
| chr11:66530328 | C | T | 2 | a0001c0001t0001g0037 a0001c0001t0001g0161 |
3 | HG00438.hp2 NA18950.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.1473+376C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530328 | |||||||
| chr11:66530363 | G | A | 21 | a0001c0003t0003g0005 a0001c0003t0003g0025 a0001c0003t0003g0026 others(18): Show |
27 | HG00408.hp1 HG02074.hp2 HG02080.hp2 others(24): Show |
intron_variant | MODIFIER | c.1473+411G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530363 | |||||||
| chr11:66530624 | G | C | 1 | a0001c0001t0002g0215 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1474-270G>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530624 | |||||||
| chr11:66530659 | C | T | 1 | a0001c0001t0001g0235 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1474-235C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530659 | |||||||
| chr11:66530780 | A | G | 1 | a0001c0001t0001g0234 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1474-114A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530780 | |||||||
| chr11:66530812 | G | A | 1 | a0001c0001t0002g0128 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1474-82G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530812 | |||||||
| chr11:66530849 | A | G | 1 | a0001c0001t0002g0214 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.1474-45A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530849 | |||||||
| chr11:66530881 | A | C | 1 | a0001c0002t0003g0087 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.1474-13A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 14/16 | chr11 | 66530881 | |||||||
| chr11:66531089 | A | G | 1 | a0001c0001t0002g0228 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.1608+61A>G | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531089 | |||||||
| chr11:66531123 | C | T | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.1608+95C>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531123 | |||||||
| chr11:66531139 | A | C | 1 | a0001c0001t0002g0115 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.1608+111A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531139 | |||||||
| chr11:66531147 | A | T | 1 | a0001c0001t0013g0216 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1608+119A>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531147 | |||||||
| chr11:66531152 | A | C | 76 | a0001c0002t0003g0004 a0001c0002t0003g0010 a0001c0002t0003g0011 others(73): Show |
102 | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(99): Show |
intron_variant | MODIFIER | c.1608+124A>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531152 | |||||||
| chr11:66531349 | G | T | 1 | a0001c0001t0002g0055 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1609-307G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531349 | |||||||
| chr11:66531425 | T | C | 1 | a0001c0001t0013g0216 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1609-231T>C | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 15/16 | chr11 | 66531425 | |||||||
| chr11:66531752 | G | A | 1 | a0001c0001t0001g0159 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1695+10G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 16/16 | chr11 | 66531752 | |||||||
| chr11:66531826 | G | T | 4 | a0001c0001t0001g0109 a0001c0001t0001g0158 a0001c0001t0001g0160 others(1): Show |
4 | HG00423.hp1 NA18973.hp1 NA18977.hp1 others(1): Show |
intron_variant | MODIFIER | c.1695+84G>T | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 16/16 | chr11 | 66531826 | |||||||
| chr11:66531864 | G | A | 1 | a0001c0001t0001g0235 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.1696-87G>A | BBS1 | ENSG00000174483.20 | transcript | ENST00000318312.12 | protein_coding | 16/16 | chr11 | 66531864 |