Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 375318 |
| ensemblid | ENSG00000184945.15 |
| hgncid | 19941 |
| symbol | AQP12A |
| name | aquaporin 12A |
| refseq_nuc | NM_198998.3 |
| refseq_prot | NP_945349.1 |
| ensembl_nuc | ENST00000337801.9 |
| ensembl_prot | ENSP00000337144.4 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 240691866 |
| end | 240698483 |
| strand | + |
| ver | v1.2 |
| region | chr2:240691866-240698483 |
| region5000 | chr2:240686866-240703483 |
| regionname0 | AQP12A_chr2_240691866_240698483 |
| regionname5000 | AQP12A_chr2_240686866_240703483 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 295 | 59 | 6 | 3 | 37 | 3 | 9 | 26 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0002 | 0/0 | 295 | 34 | 4 | 13 | 16 | 0 | 1 | 12 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0003 | 0/0 | 295 | 19 | 3 | 7 | 0 | 6 | 3 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0004 | 0/0 | 295 | 16 | 0 | 4 | 4 | 3 | 5 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0005 | 0/0 | 295 | 12 | 1 | 2 | 3 | 1 | 5 | 2 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0006 | 0/0 | 295 | 12 | 8 | 0 | 3 | 1 | 0 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0007 | 0/0 | 295 | 5 | 1 | 4 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0008 | 0/0 | 295 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0009 | 0/0 | 295 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0010 | 0/0 | 295 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0011 | 0/0 | 295 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0012 | 0/0 | 295 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0013 | 0/0 | 295 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0014 | 0/0 | 258 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(253): Show |
chr2 | 240686866 | 240703483 |
| a0015 | 0/0 | 295 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0016 | 0/0 | 295 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| a0017 | 0/0 | 295 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | MAGLN others(290): Show |
chr2 | 240686866 | 240703483 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/0 | 885 | 51 | 6 | 3 | 34 | 1 | 6 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0001c0010 | 0/0 | 885 | 5 | 0 | 0 | 0 | 2 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0001c0016 | 0/0 | 885 | 2 | 0 | 0 | 2 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0001c0021 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0002c0002 | 0/0 | 885 | 28 | 0 | 12 | 15 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0002c0007 | 0/0 | 885 | 6 | 4 | 1 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0003c0003 | 0/0 | 885 | 18 | 2 | 7 | 0 | 6 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0003c0019 | 0/0 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0004c0006 | 0/0 | 885 | 10 | 0 | 2 | 1 | 2 | 5 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0004c0009 | 0/0 | 885 | 5 | 0 | 2 | 2 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0004c0024 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0005c0004 | 0/0 | 885 | 12 | 1 | 2 | 3 | 1 | 5 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0006c0005 | 0/0 | 885 | 10 | 6 | 0 | 3 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0006c0013 | 0/0 | 885 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0007c0008 | 0/0 | 885 | 5 | 1 | 4 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0008c0014 | 0/0 | 885 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0009c0015 | 0/0 | 885 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0010c0012 | 0/0 | 885 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0011c0011 | 0/0 | 885 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0012c0017 | 0/0 | 885 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0013c0025 | 0/0 | 885 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0014c0022 | 0/0 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0015c0020 | 0/0 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0016c0018 | 0/0 | 885 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 | ||
| a0017c0023 | 0/0 | 885 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | ATGGC others(880): Show |
chr2 | 240686866 | 240703483 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 1/0 | 1063 | 51 | 6 | 3 | 34 | 1 | 6 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0001c0010t0001 | 0/0 | 1063 | 5 | 0 | 0 | 0 | 2 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0001c0016t0001 | 0/0 | 1063 | 2 | 0 | 0 | 2 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0001c0021t0001 | 0/0 | 1063 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0002c0002t0002 | 0/0 | 1063 | 28 | 0 | 12 | 15 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0002c0007t0002 | 0/0 | 1063 | 6 | 4 | 1 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0003c0003t0001 | 0/0 | 1063 | 18 | 2 | 7 | 0 | 6 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0003c0019t0001 | 0/0 | 1063 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0004c0006t0001 | 0/0 | 1063 | 10 | 0 | 2 | 1 | 2 | 5 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0004c0009t0001 | 0/0 | 1063 | 5 | 0 | 2 | 2 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0004c0024t0001 | 0/0 | 1063 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0005c0004t0002 | 0/0 | 1063 | 12 | 1 | 2 | 3 | 1 | 5 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0006c0005t0001 | 0/0 | 1063 | 10 | 6 | 0 | 3 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0006c0013t0001 | 0/0 | 1063 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0007c0008t0001 | 0/0 | 1063 | 5 | 1 | 4 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0008c0014t0001 | 0/0 | 1063 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0009c0015t0001 | 0/0 | 1063 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0010c0012t0002 | 0/0 | 1063 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0011c0011t0002 | 0/0 | 1063 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0012c0017t0002 | 0/0 | 1063 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0013c0025t0002 | 0/0 | 1063 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0014c0022t0001 | 0/0 | 1063 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0015c0020t0001 | 0/0 | 1063 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0016c0018t0001 | 0/0 | 1063 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| a0017c0023t0001 | 0/0 | 1063 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | GTCCC others(1058): Show |
chr2 | 240686866 | 240703483 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 1/0 | 21 | 0 | 0 | 16 | 1 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0004 | 0/0 | 5 | 0 | 0 | 3 | 0 | 2 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0009 | 0/0 | 4 | 0 | 1 | 2 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0011 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0018 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0020 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0001t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0010t0001g0001 | 0/0 | 4 | 0 | 0 | 0 | 1 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0010t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0016t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0001c0021t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0002t0002g0003 | 0/0 | 16 | 0 | 8 | 8 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0002t0002g0005 | 0/0 | 5 | 0 | 3 | 2 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0002t0002g0008 | 0/0 | 4 | 0 | 1 | 2 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0002t0002g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0007t0002g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0007t0002g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0007t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0007t0002g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0002c0007t0002g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0003c0003t0001g0002 | 0/0 | 15 | 1 | 7 | 0 | 5 | 2 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0003c0003t0001g0021 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0003c0003t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0003c0003t0001g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0003c0019t0001g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0006t0001g0010 | 0/0 | 4 | 0 | 0 | 0 | 0 | 4 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0006t0001g0017 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0006t0001g0039 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0006t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0006t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0006t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0009t0001g0019 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0009t0001g0044 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0009t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0009t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0004c0024t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0007 | 0/0 | 4 | 0 | 0 | 1 | 0 | 3 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0015 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0032 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0033 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0035 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0005c0004t0002g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0006c0005t0001g0006 | 0/0 | 4 | 3 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0006c0005t0001g0012 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0006c0005t0001g0023 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0006c0005t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0006c0013t0001g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0006c0013t0001g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0007c0008t0001g0002 | 0/0 | 4 | 1 | 3 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0007c0008t0001g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0008c0014t0001g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0009c0015t0001g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0010c0012t0002g0016 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0011c0011t0002g0013 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0012c0017t0002g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0013c0025t0002g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0014c0022t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0015c0020t0001g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0016c0018t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| a0017c0023t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0005 | c0004 | t0002 | g0015 | EUR | GBR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00099 | hp2 | a0003 | c0003 | t0001 | g0002 | EUR | GBR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00140 | hp1 | a0003 | c0003 | t0001 | g0002 | EUR | GBR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00140 | hp2 | a0001 | c0010 | t0001 | g0055 | EUR | GBR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00323 | hp1 | a0003 | c0003 | t0001 | g0021 | EUR | FIN | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00323 | hp2 | a0006 | c0005 | t0001 | g0063 | EUR | FIN | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00408 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | CHS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00438 | hp1 | a0005 | c0004 | t0002 | g0025 | EAS | CHS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | CHS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00597 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | CHS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00597 | hp2 | a0004 | c0006 | t0001 | g0051 | EAS | CHS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00639 | hp1 | a0003 | c0003 | t0001 | g0002 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00639 | hp2 | a0004 | c0009 | t0001 | g0019 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00738 | hp1 | a0004 | c0006 | t0001 | g0054 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG00738 | hp2 | a0002 | c0002 | t0002 | g0003 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01069 | hp1 | a0003 | c0003 | t0001 | g0002 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01069 | hp2 | a0005 | c0004 | t0002 | g0033 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01081 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01081 | hp2 | a0003 | c0003 | t0001 | g0002 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0049 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01106 | hp2 | a0004 | c0006 | t0001 | g0048 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01168 | hp1 | a0008 | c0014 | t0001 | g0022 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01168 | hp2 | a0005 | c0004 | t0002 | g0015 | AMR | PUR | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01256 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01256 | hp2 | a0003 | c0003 | t0001 | g0002 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01257 | hp1 | a0009 | c0015 | t0001 | g0001 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01257 | hp2 | a0003 | c0003 | t0001 | g0002 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01258 | hp1 | a0003 | c0003 | t0001 | g0002 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01258 | hp2 | a0009 | c0015 | t0001 | g0001 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01358 | hp1 | a0007 | c0008 | t0001 | g0002 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01358 | hp2 | a0008 | c0014 | t0001 | g0022 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01433 | hp1 | a0007 | c0008 | t0001 | g0002 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01433 | hp2 | a0002 | c0002 | t0002 | g0008 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01496 | hp1 | a0004 | c0009 | t0001 | g0019 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01496 | hp2 | a0012 | c0017 | t0002 | g0024 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01515 | hp1 | a0003 | c0003 | t0001 | g0002 | EUR | IBS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01515 | hp2 | a0004 | c0006 | t0001 | g0017 | EUR | IBS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01516 | hp1 | a0003 | c0003 | t0001 | g0002 | EUR | IBS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01516 | hp2 | a0001 | c0010 | t0001 | g0001 | EUR | IBS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01517 | hp1 | a0004 | c0006 | t0001 | g0017 | EUR | IBS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01517 | hp2 | a0003 | c0003 | t0001 | g0002 | EUR | IBS | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01975 | hp1 | a0002 | c0002 | t0002 | g0005 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01975 | hp2 | a0002 | c0002 | t0002 | g0003 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01981 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01981 | hp2 | a0002 | c0002 | t0002 | g0005 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01993 | hp1 | a0002 | c0007 | t0002 | g0036 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0020 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02004 | hp1 | a0003 | c0003 | t0001 | g0002 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02004 | hp2 | a0002 | c0002 | t0002 | g0003 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02027 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0057 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02040 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02055 | hp1 | a0003 | c0019 | t0001 | g0002 | AFR | ACB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02055 | hp2 | a0007 | c0008 | t0001 | g0002 | AFR | ACB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02071 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02071 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02080 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02080 | hp2 | a0002 | c0002 | t0002 | g0029 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02083 | hp1 | a0013 | c0025 | t0002 | g0031 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02083 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02135 | hp1 | a0001 | c0021 | t0001 | g0001 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02135 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0009 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02148 | hp2 | a0002 | c0002 | t0002 | g0005 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02280 | hp1 | a0006 | c0005 | t0001 | g0006 | AFR | ACB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02280 | hp2 | a0010 | c0012 | t0002 | g0016 | AFR | ACB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02300 | hp1 | a0002 | c0002 | t0002 | g0003 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02300 | hp2 | a0002 | c0002 | t0002 | g0003 | AMR | PEL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02451 | hp1 | a0006 | c0013 | t0001 | g0064 | AFR | ACB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02451 | hp2 | a0002 | c0007 | t0002 | g0034 | AFR | ACB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02572 | hp1 | a0002 | c0007 | t0002 | g0014 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0050 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02602 | hp2 | a0004 | c0006 | t0001 | g0010 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02622 | hp1 | a0006 | c0005 | t0001 | g0012 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02622 | hp2 | a0014 | c0022 | t0001 | g0067 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02735 | hp1 | a0004 | c0006 | t0001 | g0010 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02738 | hp1 | a0005 | c0004 | t0002 | g0032 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02886 | hp2 | a0006 | c0013 | t0001 | g0006 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02895 | hp1 | a0006 | c0005 | t0001 | g0006 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02895 | hp2 | a0006 | c0005 | t0001 | g0012 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02896 | hp1 | a0011 | c0011 | t0002 | g0013 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02896 | hp2 | a0010 | c0012 | t0002 | g0016 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02897 | hp1 | a0011 | c0011 | t0002 | g0013 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02897 | hp2 | a0006 | c0005 | t0001 | g0006 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02976 | hp1 | a0002 | c0007 | t0002 | g0014 | AFR | ESN | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0018 | AFR | ESN | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03239 | hp1 | a0004 | c0006 | t0001 | g0010 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03239 | hp2 | a0001 | c0010 | t0001 | g0001 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03490 | hp1 | a0003 | c0003 | t0001 | g0002 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03490 | hp2 | a0005 | c0004 | t0002 | g0007 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03492 | hp1 | a0004 | c0006 | t0001 | g0039 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03492 | hp2 | a0005 | c0004 | t0002 | g0007 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03516 | hp1 | a0015 | c0020 | t0001 | g0065 | AFR | ESN | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03516 | hp2 | a0005 | c0004 | t0002 | g0038 | AFR | ESN | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03540 | hp2 | a0006 | c0005 | t0001 | g0012 | AFR | GWD | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03669 | hp1 | a0003 | c0003 | t0001 | g0061 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03669 | hp2 | a0016 | c0018 | t0001 | g0068 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03704 | hp1 | a0005 | c0004 | t0002 | g0035 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03704 | hp2 | a0003 | c0003 | t0001 | g0002 | SAS | PJL | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0009 | SAS | BEB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG03834 | hp2 | a0005 | c0004 | t0002 | g0007 | SAS | BEB | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG04115 | hp2 | a0002 | c0002 | t0002 | g0008 | SAS | STU | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG04199 | hp1 | a0001 | c0010 | t0001 | g0001 | SAS | STU | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0001 | SAS | STU | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18906 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | YRI | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18906 | hp2 | a0017 | c0023 | t0001 | g0037 | AFR | YRI | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0052 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18942 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18944 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18950 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18950 | hp2 | a0006 | c0005 | t0001 | g0023 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18952 | hp1 | a0002 | c0007 | t0002 | g0003 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18952 | hp2 | a0001 | c0001 | t0001 | g0060 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18959 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0045 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18966 | hp1 | a0006 | c0005 | t0001 | g0006 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0020 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18967 | hp1 | a0005 | c0004 | t0002 | g0007 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18967 | hp2 | a0002 | c0002 | t0002 | g0005 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18974 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18974 | hp2 | a0004 | c0009 | t0001 | g0066 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18986 | hp1 | a0002 | c0002 | t0002 | g0005 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18986 | hp2 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18993 | hp2 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18998 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18999 | hp1 | a0001 | c0016 | t0001 | g0004 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18999 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19004 | hp1 | a0001 | c0001 | t0001 | g0042 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19004 | hp2 | a0002 | c0002 | t0002 | g0008 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19010 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19056 | hp1 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19056 | hp2 | a0001 | c0016 | t0001 | g0004 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19057 | hp1 | a0004 | c0009 | t0001 | g0059 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19057 | hp2 | a0004 | c0024 | t0001 | g0053 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19062 | hp2 | a0006 | c0005 | t0001 | g0023 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19064 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19064 | hp2 | a0002 | c0002 | t0002 | g0028 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19065 | hp1 | a0002 | c0002 | t0002 | g0003 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19065 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19070 | hp1 | a0005 | c0004 | t0002 | g0026 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19082 | hp1 | a0002 | c0002 | t0002 | g0027 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA20129 | hp1 | a0003 | c0003 | t0001 | g0062 | AFR | ASW | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA20129 | hp2 | a0003 | c0003 | t0001 | g0002 | AFR | ASW | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA20752 | hp2 | a0004 | c0009 | t0001 | g0044 | EUR | TSI | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA20905 | hp1 | a0001 | c0010 | t0001 | g0001 | SAS | GIH | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA20905 | hp2 | a0004 | c0006 | t0001 | g0010 | SAS | GIH | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01123 | hp1 | a0007 | c0008 | t0001 | g0021 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG01123 | hp2 | a0007 | c0008 | t0001 | g0002 | AMR | CLM | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0018 | AFR | USA | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| HG06807 | hp2 | a0002 | c0007 | t0002 | g0030 | AFR | USA | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18955 | hp1 | a0001 | c0001 | t0001 | g0047 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0004 | EAS | JPT | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0001 | REF | REF | AQP12A_chr2_240686866_240703483 | AQP12A | chr2 | 240686866 | 240703483 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:240691946 | C | G | 1 | a0013 | 1 | HG02083.hp1 | missense_variant | MODERATE | c.33C>G | p.Phe11Leu | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 81/1063 | 33/888 | 11/295 | chr2 | 240691946 | |||
| chr2:240691959 | G | A | 1 | a0012 | 1 | HG01496.hp2 | missense_variant | MODERATE | c.46G>A | p.Ala16Thr | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 94/1063 | 46/888 | 16/295 | chr2 | 240691959 | |||
| chr2:240691981 | G | A | 4 | a0002 a0005 a0011 others(1): Show |
49 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(46): Show |
missense_variant | MODERATE | c.68G>A | p.Arg23Gln | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 116/1063 | 68/888 | 23/295 | chr2 | 240691981 | |||
| chr2:240691984 | C | A | 1 | a0011 | 2 | HG02896.hp1 HG02897.hp1 |
missense_variant | MODERATE | c.71C>A | p.Ala24Asp | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 119/1063 | 71/888 | 24/295 | chr2 | 240691984 | |||
| chr2:240691996 | T | G | 4 | a0003 a0006 a0007 others(1): Show |
38 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show |
missense_variant | MODERATE | c.83T>G | p.Leu28Arg | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 131/1063 | 83/888 | 28/295 | chr2 | 240691996 | |||
| chr2:240692167 | G | T | 1 | a0016 | 1 | HG03669.hp2 | missense_variant | MODERATE | c.217G>T | p.Val73Phe | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 265/1063 | 217/888 | 73/295 | chr2 | 240692167 | |||
| chr2:240692171 | C | T | 1 | a0009 | 2 | HG01257.hp1 HG01258.hp2 |
missense_variant | MODERATE | c.221C>T | p.Thr74Ile | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 269/1063 | 221/888 | 74/295 | chr2 | 240692171 | |||
| chr2:240692230 | C | G | 8 | a0002 a0005 a0010 others(5): Show |
54 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(51): Show |
missense_variant | MODERATE | c.280C>G | p.Gln94Glu | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 328/1063 | 280/888 | 94/295 | chr2 | 240692230 | |||
| chr2:240692300 | T | C | 7 | a0002 a0005 a0011 others(4): Show |
52 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
missense_variant | MODERATE | c.350T>C | p.Met117Thr | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 398/1063 | 350/888 | 117/295 | chr2 | 240692300 | |||
| chr2:240692381 | G | C | 1 | a0007 | 5 | HG01123.hp1 HG01123.hp2 HG01358.hp1 others(2): Show |
missense_variant | MODERATE | c.431G>C | p.Arg144Pro | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 479/1063 | 431/888 | 144/295 | chr2 | 240692381 | |||
| chr2:240692422 | G | A | 5 | a0003 a0007 a0008 others(2): Show |
28 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(25): Show |
missense_variant | MODERATE | c.472G>A | p.Ala158Thr | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 520/1063 | 472/888 | 158/295 | chr2 | 240692422 | |||
| chr2:240692510 | C | T | 1 | a0016 | 1 | HG03669.hp2 | missense_variant | MODERATE | c.560C>T | p.Thr187Met | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 608/1063 | 560/888 | 187/295 | chr2 | 240692510 | |||
| chr2:240692519 | C | T | 1 | a0006 | 12 | HG00323.hp2 HG02280.hp1 HG02451.hp1 others(9): Show |
missense_variant&splice_region_variant | MODERATE | c.569C>T | p.Thr190Met | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 617/1063 | 569/888 | 190/295 | chr2 | 240692519 | |||
| chr2:240694474 | G | A | 1 | a0015 | 1 | HG03516.hp1 | missense_variant | MODERATE | c.613G>A | p.Ala205Thr | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/4 | 661/1063 | 613/888 | 205/295 | chr2 | 240694474 | |||
| chr2:240698199 | A | G | 6 | a0003 a0004 a0005 others(3): Show |
55 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(52): Show |
missense_variant | MODERATE | c.731A>G | p.His244Arg | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 4/4 | 779/1063 | 731/888 | 244/295 | chr2 | 240698199 | |||
| chr2:240698243 | C | T | 1 | a0014 | 1 | HG02622.hp2 | stop_gained | HIGH | c.775C>T | p.Arg259* | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 4/4 | 823/1063 | 775/888 | 259/295 | chr2 | 240698243 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:240691973 | G | A | 8 | a0002c0002 a0002c0007 a0005c0004 others(5): Show |
53 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
synonymous_variant | LOW | c.60G>A | p.Ala20Ala | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 108/1063 | 60/888 | 20/295 | chr2 | 240691973 | |||
| chr2:240691976 | C | T | 2 | a0001c0016 a0004c0024 |
3 | NA18999.hp1 NA19056.hp2 NA19057.hp2 |
synonymous_variant | LOW | c.63C>T | p.Ala21Ala | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 111/1063 | 63/888 | 21/295 | chr2 | 240691976 | |||
| chr2:240692100 | C | T | 1 | a0002c0002 | 28 | HG00408.hp2 HG00597.hp1 HG00738.hp2 others(25): Show |
synonymous_variant | LOW | c.150C>T | p.Pro50Pro | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 198/1063 | 150/888 | 50/295 | chr2 | 240692100 | |||
| chr2:240692160 | G | C | 1 | a0016c0018 | 1 | HG03669.hp2 | synonymous_variant | LOW | c.210G>C | p.Ala70Ala | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 258/1063 | 210/888 | 70/295 | chr2 | 240692160 | |||
| chr2:240692199 | T | C | 12 | a0001c0021 a0002c0002 a0002c0007 others(9): Show |
57 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(54): Show |
synonymous_variant | LOW | c.249T>C | p.Thr83Thr | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 297/1063 | 249/888 | 83/295 | chr2 | 240692199 | |||
| chr2:240692248 | C | T | 3 | a0001c0010 a0004c0006 a0009c0015 |
17 | HG00140.hp2 HG00597.hp2 HG00738.hp1 others(14): Show |
synonymous_variant | LOW | c.298C>T | p.Leu100Leu | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 346/1063 | 298/888 | 100/295 | chr2 | 240692248 | |||
| chr2:240692251 | T | C | 10 | a0002c0002 a0002c0007 a0005c0004 others(7): Show |
56 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(53): Show |
synonymous_variant | LOW | c.301T>C | p.Leu101Leu | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 349/1063 | 301/888 | 101/295 | chr2 | 240692251 | |||
| chr2:240692469 | C | G | 6 | a0003c0003 a0006c0005 a0006c0013 others(3): Show |
38 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show |
synonymous_variant | LOW | c.519C>G | p.Pro173Pro | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 567/1063 | 519/888 | 173/295 | chr2 | 240692469 | |||
| chr2:240692484 | C | T | 6 | a0003c0003 a0006c0005 a0006c0013 others(3): Show |
38 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show |
synonymous_variant | LOW | c.534C>T | p.Pro178Pro | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/4 | 582/1063 | 534/888 | 178/295 | chr2 | 240692484 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:240691894 | T | A | 7 | a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 others(4): Show |
52 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
5_prime_UTR_variant | MODIFIER | c.-20T>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 20 | chr2 | 240691894 | ||||||
| chr2:240691895 | C | T | 7 | a0002c0002t0002 a0002c0007t0002 a0005c0004t0002 others(4): Show |
52 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
5_prime_UTR_variant | MODIFIER | c.-19C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/4 | 19 | chr2 | 240691895 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr2:240692042 | T | C | 24 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show |
53 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
splice_region_variant&intron_variant | LOW | c.123+6T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | 240692042 | |||||||
| chr2:240692044 | CG | C | 25 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(22): Show |
54 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(51): Show |
intron_variant | MODIFIER | c.123+11delG | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | 240692044 | ||||||
| chr2:240692059 | C | G | 42 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(39): Show |
95 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show |
intron_variant | MODIFIER | c.124-15C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | 240692059 | |||||||
| chr2:240692066 | G | T | 24 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show |
53 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(50): Show |
splice_region_variant&intron_variant | LOW | c.124-8G>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 1/3 | chr2 | 240692066 | |||||||
| chr2:240692554 | G | C | 16 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(13): Show |
41 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(38): Show |
intron_variant | MODIFIER | c.571+33G>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692554 | |||||||
| chr2:240692585 | C | T | 16 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(13): Show |
40 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(37): Show |
intron_variant | MODIFIER | c.571+64C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692585 | |||||||
| chr2:240692599 | T | C | 17 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(14): Show |
42 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(39): Show |
intron_variant | MODIFIER | c.571+78T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692599 | |||||||
| chr2:240692652 | A | G | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
39 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.571+131A>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692652 | |||||||
| chr2:240692655 | C | T | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
39 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.571+134C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692655 | |||||||
| chr2:240692658 | T | C | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
39 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.571+137T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692658 | |||||||
| chr2:240692671 | T | C | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
39 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.571+150T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692671 | |||||||
| chr2:240692700 | A | G | 2 | a0004c0006t0001g0017 a0004c0006t0001g0039 |
3 | HG01515.hp2 HG01517.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.571+179A>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692700 | |||||||
| chr2:240692718 | C | G | 16 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(13): Show |
40 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(37): Show |
intron_variant | MODIFIER | c.571+197C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692718 | |||||||
| chr2:240692753 | C | T | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
39 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.571+232C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692753 | |||||||
| chr2:240692757 | T | C | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
39 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(36): Show |
intron_variant | MODIFIER | c.571+236T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692757 | |||||||
| chr2:240692768 | G | C | 17 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0003c0003t0001g0002 others(14): Show |
41 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(38): Show |
intron_variant | MODIFIER | c.571+247G>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692768 | |||||||
| chr2:240692769 | C | T | 1 | a0016c0018t0001g0068 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.571+248C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692769 | |||||||
| chr2:240692966 | G | A | 20 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(17): Show |
48 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(45): Show |
intron_variant | MODIFIER | c.571+445G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692966 | |||||||
| chr2:240692985 | A | G | 24 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show |
52 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.571+464A>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240692985 | |||||||
| chr2:240693251 | G | C | 3 | a0004c0009t0001g0066 a0014c0022t0001g0067 a0017c0023t0001g0037 |
3 | HG02622.hp2 NA18906.hp2 NA18974.hp2 |
intron_variant | MODIFIER | c.571+730G>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693251 | |||||||
| chr2:240693329 | T | C | 16 | a0001c0001t0001g0018 a0002c0002t0002g0005 a0002c0002t0002g0027 others(13): Show |
25 | HG00438.hp1 HG01496.hp2 HG01975.hp1 others(22): Show |
intron_variant | MODIFIER | c.571+808T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693329 | |||||||
| chr2:240693369 | T | C | 1 | a0001c0001t0001g0018 | 2 | HG02976.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.571+848T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693369 | |||||||
| chr2:240693376 | A | T | 1 | a0001c0001t0001g0018 | 2 | HG02976.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.571+855A>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693376 | |||||||
| chr2:240693441 | G | A | 1 | a0010c0012t0002g0016 | 2 | HG02280.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.571+920G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693441 | |||||||
| chr2:240693587 | T | C | 9 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(6): Show |
27 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(24): Show |
intron_variant | MODIFIER | c.572-846T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693587 | |||||||
| chr2:240693589 | C | G | 1 | a0012c0017t0002g0024 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.572-844C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693589 | |||||||
| chr2:240693630 | G | C | 1 | a0015c0020t0001g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.572-803G>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693630 | |||||||
| chr2:240693773 | G | C | 5 | a0001c0001t0001g0018 a0001c0001t0001g0042 a0001c0001t0001g0043 others(2): Show |
7 | HG00639.hp2 HG01496.hp1 HG02976.hp2 others(4): Show |
intron_variant | MODIFIER | c.572-660G>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693773 | |||||||
| chr2:240693786 | ATCTCTCT others(12): Show |
A | 1 | a0004c0009t0001g0044 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.572-563_572-545del others(19): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693786 | ||||||
| chr2:240693786 | ATCTCTCT others(123): Show |
A | 14 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(11): Show |
38 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show |
intron_variant | MODIFIER | c.572-524_572-395del | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693786 | ||||||
| chr2:240693786 | ATCTCTCT others(142): Show |
A | 1 | a0001c0001t0001g0018 | 2 | HG02976.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.572-563_572-415del | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693786 | ||||||
| chr2:240693786 | ATCTCTCT others(161): Show |
A | 1 | a0012c0017t0002g0024 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.572-582_572-415del | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693786 | ||||||
| chr2:240693786 | ATCTCTCT others(180): Show |
A | 24 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(21): Show |
52 | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(49): Show |
intron_variant | MODIFIER | c.572-601_572-415del | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693786 | ||||||
| chr2:240693821 | CCTCTCTC others(127): Show |
C | 1 | a0010c0012t0002g0016 | 2 | HG02280.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.572-603_572-470del | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693821 | ||||||
| chr2:240693824 | CTCTCTCT others(66): Show |
C | 2 | a0015c0020t0001g0065 a0016c0018t0001g0068 |
2 | HG03516.hp1 HG03669.hp2 |
intron_variant | MODIFIER | c.572-544_572-472del others(73): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693824 | ||||||
| chr2:240693897 | G | GTCTCTCT others(31): Show |
1 | a0001c0001t0001g0011 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.572-452_572-415dup others(38): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693897 | ||||||
| chr2:240693897 | GTCTCTCT others(12): Show |
G | 1 | a0001c0001t0001g0050 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.572-433_572-415del others(19): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr2 | 240693897 | ||||||
| chr2:240693968 | C | T | 1 | a0003c0003t0001g0062 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.572-465C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240693968 | |||||||
| chr2:240694002 | G | T | 8 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(5): Show |
26 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.572-431G>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694002 | |||||||
| chr2:240694064 | TGTCTCTC others(22): Show |
T | 1 | a0001c0001t0001g0060 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.572-368_572-340del others(29): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694064 | |||||||
| chr2:240694077 | G | C | 52 | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0050 others(49): Show |
115 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(112): Show |
intron_variant | MODIFIER | c.572-356G>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694077 | |||||||
| chr2:240694171 | G | A | 1 | a0016c0018t0001g0068 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.572-262G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694171 | |||||||
| chr2:240694182 | C | G | 1 | a0016c0018t0001g0068 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.572-251C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694182 | |||||||
| chr2:240694304 | C | T | 1 | a0016c0018t0001g0068 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.572-129C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694304 | |||||||
| chr2:240694393 | G | A | 3 | a0005c0004t0002g0025 a0005c0004t0002g0026 a0013c0025t0002g0031 |
3 | HG00438.hp1 HG02083.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.572-40G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 2/3 | chr2 | 240694393 | |||||||
| chr2:240694556 | G | T | 1 | a0015c0020t0001g0065 | 1 | HG03516.hp1 | splice_region_variant&intron_variant | LOW | c.688+7G>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694556 | |||||||
| chr2:240694614 | G | A | 7 | a0006c0005t0001g0006 a0006c0005t0001g0012 a0006c0005t0001g0023 others(4): Show |
14 | HG00323.hp2 HG02280.hp1 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.688+65G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694614 | |||||||
| chr2:240694632 | G | T | 2 | a0004c0009t0001g0066 a0014c0022t0001g0067 |
2 | HG02622.hp2 NA18974.hp2 |
intron_variant | MODIFIER | c.688+83G>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694632 | |||||||
| chr2:240694644 | G | A | 2 | a0004c0009t0001g0066 a0014c0022t0001g0067 |
2 | HG02622.hp2 NA18974.hp2 |
intron_variant | MODIFIER | c.688+95G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694644 | |||||||
| chr2:240694679 | T | C | 15 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(12): Show |
40 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(37): Show |
intron_variant | MODIFIER | c.688+130T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694679 | |||||||
| chr2:240694685 | C | G | 43 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(40): Show |
96 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(93): Show |
intron_variant | MODIFIER | c.688+136C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694685 | |||||||
| chr2:240694704 | G | A | 35 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0008 others(32): Show |
87 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(84): Show |
intron_variant | MODIFIER | c.688+155G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694704 | |||||||
| chr2:240694808 | C | T | 1 | a0002c0007t0002g0036 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.688+259C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694808 | |||||||
| chr2:240694875 | A | G | 1 | a0015c0020t0001g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.688+326A>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694875 | |||||||
| chr2:240694897 | G | T | 8 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(5): Show |
26 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(23): Show |
intron_variant | MODIFIER | c.688+348G>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694897 | |||||||
| chr2:240694945 | G | A | 1 | a0016c0018t0001g0068 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.688+396G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694945 | |||||||
| chr2:240694998 | T | C | 1 | a0010c0012t0002g0016 | 2 | HG02280.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.688+449T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240694998 | |||||||
| chr2:240695020 | T | C | 1 | a0003c0003t0001g0061 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.688+471T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695020 | |||||||
| chr2:240695037 | C | T | 1 | a0001c0001t0001g0058 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.688+488C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695037 | |||||||
| chr2:240695413 | T | C | 5 | a0001c0001t0001g0045 a0004c0009t0001g0066 a0005c0004t0002g0038 others(2): Show |
5 | HG02622.hp2 HG03516.hp2 NA18906.hp2 others(2): Show |
intron_variant | MODIFIER | c.688+864T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695413 | |||||||
| chr2:240695433 | T | C | 1 | a0001c0001t0001g0046 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.688+884T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695433 | |||||||
| chr2:240695455 | G | A | 1 | a0003c0003t0001g0061 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.688+906G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695455 | |||||||
| chr2:240695497 | T | C | 16 | a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0047 others(13): Show |
38 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(35): Show |
intron_variant | MODIFIER | c.688+948T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695497 | |||||||
| chr2:240695517 | C | T | 7 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0062 others(4): Show |
25 | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(22): Show |
intron_variant | MODIFIER | c.688+968C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695517 | |||||||
| chr2:240695561 | A | G | 1 | a0005c0004t0002g0038 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.688+1012A>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695561 | |||||||
| chr2:240695826 | G | A | 1 | a0004c0006t0001g0048 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.688+1277G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695826 | |||||||
| chr2:240695829 | C | A | 1 | a0006c0005t0001g0063 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.688+1280C>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695829 | |||||||
| chr2:240695884 | T | C | 2 | a0001c0001t0001g0042 a0001c0001t0001g0049 |
2 | HG01106.hp1 NA19004.hp1 |
intron_variant | MODIFIER | c.688+1335T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695884 | |||||||
| chr2:240695936 | C | T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0018 a0001c0001t0001g0057 others(2): Show |
9 | HG00099.hp1 HG01168.hp2 HG02040.hp1 others(6): Show |
intron_variant | MODIFIER | c.688+1387C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240695936 | |||||||
| chr2:240696076 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.688+1527G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696076 | |||||||
| chr2:240696247 | T | G | 1 | a0011c0011t0002g0013 | 2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.688+1698T>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696247 | |||||||
| chr2:240696536 | T | C | 39 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0020 others(36): Show |
90 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(87): Show |
intron_variant | MODIFIER | c.689-1621T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696536 | |||||||
| chr2:240696725 | G | A | 1 | a0001c0001t0001g0050 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.689-1432G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696725 | |||||||
| chr2:240696839 | C | G | 3 | a0002c0007t0002g0014 a0002c0007t0002g0030 a0005c0004t0002g0038 |
4 | HG02572.hp1 HG02976.hp1 HG03516.hp2 others(1): Show |
intron_variant | MODIFIER | c.689-1318C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696839 | |||||||
| chr2:240696920 | G | A | 1 | a0006c0013t0001g0064 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.689-1237G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696920 | |||||||
| chr2:240696966 | C | G | 1 | a0002c0002t0002g0029 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.689-1191C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696966 | |||||||
| chr2:240696997 | T | G | 4 | a0005c0004t0002g0025 a0005c0004t0002g0026 a0013c0025t0002g0031 others(1): Show |
4 | HG00438.hp1 HG02083.hp1 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.689-1160T>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240696997 | |||||||
| chr2:240697125 | G | A | 1 | a0002c0002t0002g0027 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.689-1032G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697125 | |||||||
| chr2:240697227 | C | A | 1 | a0002c0007t0002g0034 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.689-930C>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697227 | |||||||
| chr2:240697373 | T | C | 1 | a0015c0020t0001g0065 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.689-784T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697373 | |||||||
| chr2:240697451 | ACTGTAGG others(4): Show |
A | 1 | a0001c0001t0001g0060 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.689-696_689-686del others(11): Show |
AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr2 | 240697451 | ||||||
| chr2:240697513 | C | G | 1 | a0001c0001t0001g0056 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.689-644C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697513 | |||||||
| chr2:240697620 | G | A | 26 | a0001c0010t0001g0055 a0003c0003t0001g0002 a0003c0003t0001g0021 others(23): Show |
57 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(54): Show |
intron_variant | MODIFIER | c.689-537G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697620 | |||||||
| chr2:240697688 | T | G | 1 | a0001c0001t0001g0052 | 1 | NA18942.hp1 | intron_variant | MODIFIER | c.689-469T>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697688 | |||||||
| chr2:240697697 | G | A | 1 | a0006c0005t0001g0012 | 3 | HG02622.hp1 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.689-460G>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697697 | |||||||
| chr2:240697805 | C | G | 6 | a0003c0003t0001g0002 a0003c0003t0001g0062 a0003c0019t0001g0002 others(3): Show |
23 | HG00099.hp2 HG00140.hp1 HG00597.hp2 others(20): Show |
intron_variant | MODIFIER | c.689-352C>G | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697805 | |||||||
| chr2:240697907 | C | A | 25 | a0003c0003t0001g0002 a0003c0003t0001g0021 a0003c0003t0001g0061 others(22): Show |
52 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(49): Show |
intron_variant | MODIFIER | c.689-250C>A | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240697907 | |||||||
| chr2:240698070 | T | C | 1 | a0004c0006t0001g0054 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.689-87T>C | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240698070 | |||||||
| chr2:240698126 | C | T | 6 | a0001c0001t0001g0020 a0002c0002t0002g0003 a0002c0002t0002g0005 others(3): Show |
26 | HG00408.hp2 HG00597.hp1 HG00738.hp2 others(23): Show |
intron_variant | MODIFIER | c.689-31C>T | AQP12A | ENSG00000184945.15 | transcript | ENST00000337801.9 | protein_coding | 3/3 | chr2 | 240698126 |