Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5053 |
| ensemblid | ENSG00000171759.10 |
| hgncid | 8582 |
| symbol | PAH |
| name | phenylalanine hydroxylase |
| refseq_nuc | NM_000277.3 |
| refseq_prot | NP_000268.1 |
| ensembl_nuc | ENST00000553106.6 |
| ensembl_prot | ENSP00000448059.1 |
| mane_status | MANE Select |
| chr | chr12 |
| start | 102836889 |
| end | 102917244 |
| strand | - |
| ver | v1.2 |
| region | chr12:102836889-102917244 |
| region5000 | chr12:102831889-102922244 |
| regionname0 | PAH_chr12_102836889_102917244 |
| regionname5000 | PAH_chr12_102831889_102922244 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 452 | 300 | 95 | 72 | 89 | 12 | 32 | 66 | PAH_chr12_102831889_102922244 | PAH | MSTAV others(447): Show |
chr12 | 102831889 | 102922244 |
| a0002 | 0/0 | 452 | 9 | 0 | 0 | 9 | 0 | 0 | 8 | PAH_chr12_102831889_102922244 | PAH | MSTAV others(447): Show |
chr12 | 102831889 | 102922244 |
| a0003 | 0/0 | 452 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | MSTAV others(447): Show |
chr12 | 102831889 | 102922244 |
| a0004 | 0/0 | 452 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | MSTAV others(447): Show |
chr12 | 102831889 | 102922244 |
| a0005 | 0/0 | 452 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | MSTAV others(447): Show |
chr12 | 102831889 | 102922244 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1356 | 139 | 57 | 45 | 12 | 6 | 19 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0002 | 0/0 | 1356 | 76 | 1 | 12 | 54 | 2 | 7 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0003 | 0/0 | 1356 | 42 | 2 | 9 | 23 | 3 | 5 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0004 | 0/0 | 1356 | 14 | 12 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0006 | 0/0 | 1356 | 6 | 5 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0007 | 0/0 | 1356 | 6 | 6 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0008 | 0/0 | 1356 | 6 | 5 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0009 | 0/0 | 1356 | 5 | 5 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0010 | 0/0 | 1356 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0011 | 0/0 | 1356 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0012 | 0/0 | 1356 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0014 | 0/0 | 1356 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0001c0015 | 0/0 | 1356 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0002c0005 | 0/0 | 1356 | 9 | 0 | 0 | 9 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0003c0017 | 0/0 | 1356 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0004c0013 | 0/0 | 1356 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 | ||
| a0005c0016 | 0/0 | 1356 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ATGTC others(1351): Show |
chr12 | 102831889 | 102922244 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 3759 | 61 | 20 | 17 | 12 | 4 | 8 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0002 | 0/0 | 3759 | 53 | 18 | 25 | 0 | 1 | 9 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0003 | 0/0 | 3759 | 3 | 0 | 1 | 0 | 0 | 2 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0004 | 0/0 | 3759 | 7 | 6 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0006 | 0/0 | 3755 | 4 | 4 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3750): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0007 | 0/0 | 3759 | 3 | 3 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0009 | 0/0 | 3759 | 4 | 2 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0011 | 0/0 | 3760 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3755): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0012 | 0/0 | 3759 | 2 | 2 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0001t0025 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0001 | 0/0 | 3759 | 68 | 1 | 10 | 49 | 2 | 6 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0003 | 0/0 | 3759 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0011 | 0/0 | 3760 | 2 | 0 | 1 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3755): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0015 | 0/0 | 3759 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0019 | 0/0 | 3759 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0020 | 0/0 | 3759 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0021 | 0/0 | 3759 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0002t0022 | 0/0 | 3759 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0003t0001 | 0/0 | 3759 | 7 | 0 | 0 | 6 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0003t0003 | 0/0 | 3759 | 32 | 1 | 8 | 16 | 3 | 4 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0003t0005 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0003t0014 | 0/0 | 3760 | 2 | 0 | 1 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3755): Show |
chr12 | 102831889 | 102922244 |
| a0001c0004t0001 | 0/0 | 3759 | 7 | 6 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0004t0002 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0004t0007 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0004t0008 | 0/0 | 3759 | 4 | 4 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0004t0026 | 0/0 | 3759 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0006t0001 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0006t0002 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0006t0004 | 0/0 | 3759 | 3 | 3 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0006t0016 | 0/0 | 3759 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0007t0002 | 0/0 | 3759 | 2 | 2 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0007t0010 | 0/0 | 3759 | 3 | 3 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0007t0017 | 0/0 | 3760 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3755): Show |
chr12 | 102831889 | 102922244 |
| a0001c0008t0001 | 0/0 | 3759 | 3 | 3 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0008t0018 | 0/0 | 3759 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0008t0023 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0008t0024 | 0/0 | 3760 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3755): Show |
chr12 | 102831889 | 102922244 |
| a0001c0009t0005 | 0/0 | 3759 | 3 | 3 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0009t0013 | 0/0 | 3759 | 2 | 2 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0010t0001 | 0/0 | 3759 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0011t0002 | 0/0 | 3759 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0012t0002 | 0/0 | 3759 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0014t0003 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0001c0015t0002 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0002c0005t0003 | 0/0 | 3759 | 9 | 0 | 0 | 9 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0003c0017t0001 | 0/0 | 3759 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0004c0013t0005 | 0/0 | 3759 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| a0005c0016t0003 | 0/0 | 3759 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | ACTCT others(3754): Show |
chr12 | 102831889 | 102922244 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0024 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0051 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0184 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0198 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0213 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0214 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0001g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0009 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0013 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0127 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0128 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0152 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0156 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0165 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0178 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0192 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0003g0228 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0003g0250 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0003g0266 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0257 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0280 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0290 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0004g0291 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0006g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0006g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0006g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0006g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0007g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0007g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0007g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0009g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0009g0294 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0009g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0009g0301 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0011g0129 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0012g0141 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0012g0185 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0001t0025g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0001 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0006 | 0/0 | 2 | 1 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0089 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0105 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0153 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0170 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0003g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0011g0034 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0011g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0015g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0019g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0020g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0021g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0002t0022g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0112 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0010 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0251 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0254 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0260 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0261 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0262 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0264 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0274 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0285 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0003g0286 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0005g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0014g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0003t0014g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0001g0144 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0002g0145 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0007g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0008g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0008g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0008g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0008g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0004t0026g0299 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0006t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0006t0002g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0006t0004g0287 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0006t0004g0288 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0006t0004g0292 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0006t0016g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0007t0002g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0007t0002g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0007t0010g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0007t0010g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0007t0010g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0007t0017g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0008t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0008t0001g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0008t0001g0223 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0008t0018g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0008t0023g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0008t0024g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0009t0005g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0009t0005g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0009t0005g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0009t0013g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0009t0013g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0010t0001g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0011t0002g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0012t0002g0209 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0014t0003g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0001c0015t0002g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0002c0005t0003g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0003c0017t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0004c0013t0005g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| a0005c0016t0003g0276 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0003 | t0003 | g0262 | EUR | GBR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0076 | EUR | GBR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00140 | hp1 | a0001 | c0002 | t0001 | g0062 | EUR | GBR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0109 | EUR | GBR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00323 | hp1 | a0001 | c0001 | t0004 | g0257 | EUR | FIN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00323 | hp2 | a0001 | c0012 | t0002 | g0209 | EUR | FIN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00408 | hp1 | a0001 | c0002 | t0001 | g0119 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00408 | hp2 | a0001 | c0003 | t0003 | g0282 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00558 | hp1 | a0001 | c0001 | t0001 | g0027 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00558 | hp2 | a0001 | c0002 | t0001 | g0177 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00597 | hp1 | a0001 | c0002 | t0001 | g0039 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00597 | hp2 | a0001 | c0003 | t0003 | g0239 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00609 | hp1 | a0001 | c0003 | t0003 | g0284 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00609 | hp2 | a0001 | c0002 | t0001 | g0033 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00639 | hp1 | a0001 | c0001 | t0009 | g0300 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0167 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0154 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00642 | hp2 | a0001 | c0001 | t0003 | g0228 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00673 | hp1 | a0001 | c0003 | t0003 | g0283 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00673 | hp2 | a0001 | c0002 | t0001 | g0096 | EAS | CHS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00735 | hp1 | a0001 | c0003 | t0003 | g0252 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00735 | hp2 | a0001 | c0003 | t0003 | g0254 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0024 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00738 | hp2 | a0001 | c0002 | t0001 | g0091 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0147 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG00741 | hp2 | a0001 | c0001 | t0009 | g0301 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01069 | hp1 | a0001 | c0001 | t0001 | g0046 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01069 | hp2 | a0001 | c0001 | t0002 | g0165 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01074 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0124 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01081 | hp1 | a0001 | c0011 | t0002 | g0082 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01081 | hp2 | a0001 | c0003 | t0003 | g0265 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01099 | hp1 | a0001 | c0001 | t0002 | g0178 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01106 | hp1 | a0001 | c0001 | t0002 | g0200 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0069 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01109 | hp1 | a0003 | c0017 | t0001 | g0137 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0049 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01167 | hp1 | a0001 | c0010 | t0001 | g0002 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0013 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0166 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01168 | hp2 | a0001 | c0003 | t0003 | g0259 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01169 | hp1 | a0001 | c0010 | t0001 | g0002 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0163 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01175 | hp1 | a0001 | c0002 | t0011 | g0034 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01175 | hp2 | a0001 | c0004 | t0026 | g0299 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01192 | hp1 | a0001 | c0001 | t0002 | g0211 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01192 | hp2 | a0001 | c0003 | t0003 | g0267 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01243 | hp1 | a0001 | c0004 | t0001 | g0142 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01243 | hp2 | a0001 | c0001 | t0001 | g0045 | AMR | PUR | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0083 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01256 | hp1 | a0001 | c0002 | t0003 | g0226 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01256 | hp2 | a0001 | c0001 | t0002 | g0008 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01257 | hp1 | a0001 | c0002 | t0001 | g0105 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01257 | hp2 | a0001 | c0003 | t0003 | g0258 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01258 | hp1 | a0001 | c0001 | t0002 | g0008 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01258 | hp2 | a0001 | c0003 | t0014 | g0273 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0126 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01261 | hp2 | a0001 | c0001 | t0002 | g0009 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0175 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01346 | hp2 | a0001 | c0002 | t0001 | g0025 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0181 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0048 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01433 | hp1 | a0001 | c0001 | t0002 | g0164 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0023 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01496 | hp1 | a0001 | c0008 | t0018 | g0210 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01496 | hp2 | a0001 | c0002 | t0001 | g0088 | AMR | CLM | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01515 | hp1 | a0001 | c0001 | t0002 | g0146 | EUR | IBS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0108 | EUR | IBS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01516 | hp1 | a0001 | c0002 | t0001 | g0080 | EUR | IBS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01516 | hp2 | a0001 | c0003 | t0003 | g0261 | EUR | IBS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0107 | EUR | IBS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01517 | hp2 | a0001 | c0003 | t0003 | g0274 | EUR | IBS | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01884 | hp1 | a0001 | c0001 | t0002 | g0128 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01884 | hp2 | a0001 | c0008 | t0023 | g0237 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01891 | hp1 | a0001 | c0001 | t0025 | g0229 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0215 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01928 | hp1 | a0001 | c0001 | t0002 | g0160 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01928 | hp2 | a0001 | c0002 | t0001 | g0005 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01943 | hp1 | a0001 | c0001 | t0002 | g0186 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01943 | hp2 | a0001 | c0003 | t0003 | g0263 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01952 | hp1 | a0001 | c0001 | t0002 | g0162 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01952 | hp2 | a0001 | c0002 | t0001 | g0089 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01978 | hp1 | a0001 | c0001 | t0002 | g0219 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0220 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01981 | hp1 | a0001 | c0001 | t0002 | g0159 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01981 | hp2 | a0001 | c0001 | t0001 | g0197 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01993 | hp1 | a0001 | c0002 | t0001 | g0093 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG01993 | hp2 | a0001 | c0001 | t0002 | g0161 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02004 | hp1 | a0001 | c0001 | t0001 | g0133 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02004 | hp2 | a0001 | c0001 | t0002 | g0156 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02040 | hp1 | a0001 | c0003 | t0003 | g0238 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0084 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02055 | hp1 | a0001 | c0001 | t0011 | g0129 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0016 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02129 | hp1 | a0001 | c0003 | t0001 | g0118 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02129 | hp2 | a0001 | c0002 | t0001 | g0176 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0120 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02132 | hp2 | a0001 | c0002 | t0020 | g0079 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02145 | hp1 | a0001 | c0002 | t0001 | g0006 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0214 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0050 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02148 | hp2 | a0001 | c0002 | t0001 | g0005 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02155 | hp1 | a0001 | c0002 | t0001 | g0149 | EAS | CDX | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02155 | hp2 | a0001 | c0003 | t0003 | g0277 | EAS | CDX | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0106 | EAS | CDX | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02165 | hp2 | a0001 | c0003 | t0003 | g0278 | EAS | CDX | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02257 | hp1 | a0004 | c0013 | t0005 | g0232 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02257 | hp2 | a0001 | c0001 | t0012 | g0141 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02258 | hp1 | a0001 | c0001 | t0004 | g0290 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0017 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02273 | hp1 | a0001 | c0001 | t0002 | g0009 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02273 | hp2 | a0001 | c0002 | t0001 | g0077 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0071 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02280 | hp2 | a0001 | c0007 | t0010 | g0035 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02293 | hp1 | a0005 | c0016 | t0003 | g0276 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0187 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02300 | hp1 | a0001 | c0003 | t0003 | g0275 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0189 | AMR | PEL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02451 | hp1 | a0001 | c0004 | t0008 | g0298 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02451 | hp2 | a0001 | c0007 | t0002 | g0173 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02523 | hp1 | a0001 | c0003 | t0003 | g0240 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02523 | hp2 | a0001 | c0003 | t0001 | g0112 | EAS | KHV | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02572 | hp1 | a0001 | c0001 | t0002 | g0127 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02572 | hp2 | a0001 | c0003 | t0003 | g0286 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0032 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02615 | hp2 | a0001 | c0001 | t0012 | g0185 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0216 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0157 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02630 | hp1 | a0001 | c0008 | t0001 | g0223 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02630 | hp2 | a0001 | c0004 | t0007 | g0140 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02647 | hp1 | a0001 | c0001 | t0006 | g0222 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02647 | hp2 | a0001 | c0001 | t0002 | g0205 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02683 | hp1 | a0001 | c0001 | t0003 | g0250 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02683 | hp2 | a0001 | c0001 | t0002 | g0190 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02698 | hp1 | a0001 | c0002 | t0001 | g0006 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02698 | hp2 | a0001 | c0001 | t0002 | g0183 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02717 | hp1 | a0001 | c0001 | t0002 | g0103 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02717 | hp2 | a0001 | c0001 | t0004 | g0227 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02723 | hp1 | a0001 | c0006 | t0002 | g0206 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0151 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02738 | hp1 | a0001 | c0002 | t0001 | g0153 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0134 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02809 | hp1 | a0001 | c0004 | t0001 | g0144 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0101 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02818 | hp1 | a0001 | c0001 | t0001 | g0218 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02818 | hp2 | a0001 | c0015 | t0002 | g0143 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02886 | hp1 | a0001 | c0008 | t0001 | g0130 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02886 | hp2 | a0001 | c0009 | t0005 | g0231 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02895 | hp1 | a0001 | c0006 | t0004 | g0288 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02895 | hp2 | a0001 | c0007 | t0010 | g0037 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02896 | hp1 | a0001 | c0001 | t0004 | g0280 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02896 | hp2 | a0001 | c0006 | t0004 | g0292 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02897 | hp1 | a0001 | c0006 | t0004 | g0287 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02897 | hp2 | a0001 | c0001 | t0004 | g0281 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02922 | hp1 | a0001 | c0001 | t0007 | g0020 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02922 | hp2 | a0001 | c0001 | t0002 | g0150 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0213 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02965 | hp2 | a0001 | c0001 | t0002 | g0207 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02970 | hp1 | a0001 | c0001 | t0002 | g0014 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02970 | hp2 | a0001 | c0007 | t0017 | g0047 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02976 | hp1 | a0001 | c0001 | t0002 | g0018 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0022 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0188 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0068 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03041 | hp1 | a0001 | c0008 | t0001 | g0131 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03041 | hp2 | a0001 | c0001 | t0009 | g0294 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0171 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0070 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03130 | hp1 | a0001 | c0004 | t0008 | g0297 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0090 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03139 | hp1 | a0001 | c0009 | t0005 | g0230 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0193 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03195 | hp1 | a0001 | c0001 | t0009 | g0293 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0192 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03225 | hp1 | a0001 | c0001 | t0007 | g0021 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03225 | hp2 | a0001 | c0001 | t0006 | g0221 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0102 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03453 | hp2 | a0001 | c0001 | t0001 | g0217 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03486 | hp1 | a0001 | c0001 | t0002 | g0012 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03486 | hp2 | a0001 | c0004 | t0001 | g0100 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03490 | hp1 | a0001 | c0003 | t0001 | g0104 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03490 | hp2 | a0001 | c0001 | t0002 | g0168 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03491 | hp1 | a0001 | c0003 | t0003 | g0010 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03491 | hp2 | a0001 | c0001 | t0002 | g0196 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0169 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03492 | hp2 | a0001 | c0003 | t0003 | g0010 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03516 | hp1 | a0001 | c0008 | t0024 | g0236 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03516 | hp2 | a0001 | c0004 | t0001 | g0136 | AFR | ESN | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0184 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03540 | hp2 | a0001 | c0007 | t0010 | g0036 | AFR | GWD | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03579 | hp1 | a0001 | c0001 | t0004 | g0289 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03579 | hp2 | a0001 | c0009 | t0005 | g0233 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0051 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03654 | hp2 | a0001 | c0002 | t0001 | g0092 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0191 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03710 | hp2 | a0001 | c0002 | t0021 | g0085 | SAS | PJL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0074 | SAS | BEB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03831 | hp2 | a0001 | c0002 | t0001 | g0116 | SAS | BEB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03834 | hp1 | a0001 | c0001 | t0002 | g0195 | SAS | BEB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03834 | hp2 | a0001 | c0001 | t0003 | g0266 | SAS | BEB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0194 | SAS | BEB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0094 | SAS | BEB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0148 | SAS | STU | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG04199 | hp2 | a0001 | c0003 | t0003 | g0251 | SAS | STU | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0203 | SAS | STU | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG04204 | hp2 | a0001 | c0003 | t0003 | g0270 | SAS | STU | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG04228 | hp1 | a0001 | c0006 | t0016 | g0158 | SAS | STU | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0056 | SAS | STU | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18522 | hp1 | a0001 | c0001 | t0002 | g0172 | AFR | YRI | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18522 | hp2 | a0001 | c0004 | t0008 | g0296 | AFR | YRI | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18747 | hp1 | a0002 | c0005 | t0003 | g0241 | EAS | CHB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18747 | hp2 | a0001 | c0002 | t0001 | g0064 | EAS | CHB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18939 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18939 | hp2 | a0002 | c0005 | t0003 | g0246 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0179 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18942 | hp2 | a0001 | c0003 | t0001 | g0052 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18944 | hp1 | a0001 | c0002 | t0001 | g0067 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18944 | hp2 | a0001 | c0002 | t0019 | g0038 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18948 | hp2 | a0001 | c0002 | t0001 | g0204 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18951 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0087 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18954 | hp1 | a0002 | c0005 | t0003 | g0245 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18954 | hp2 | a0001 | c0002 | t0001 | g0114 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18957 | hp1 | a0001 | c0002 | t0001 | g0180 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18957 | hp2 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18960 | hp2 | a0001 | c0003 | t0003 | g0269 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18963 | hp1 | a0001 | c0003 | t0001 | g0199 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18963 | hp2 | a0001 | c0002 | t0001 | g0043 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18964 | hp1 | a0001 | c0002 | t0001 | g0031 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18964 | hp2 | a0001 | c0002 | t0001 | g0098 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18966 | hp1 | a0001 | c0002 | t0001 | g0110 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18968 | hp1 | a0001 | c0003 | t0003 | g0260 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18968 | hp2 | a0001 | c0002 | t0022 | g0029 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18970 | hp1 | a0002 | c0005 | t0003 | g0248 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18970 | hp2 | a0001 | c0002 | t0001 | g0086 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18977 | hp1 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18977 | hp2 | a0001 | c0002 | t0001 | g0059 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18982 | hp1 | a0001 | c0003 | t0003 | g0285 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18982 | hp2 | a0001 | c0002 | t0001 | g0123 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0097 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18983 | hp2 | a0002 | c0005 | t0003 | g0244 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18985 | hp1 | a0001 | c0003 | t0003 | g0264 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18985 | hp2 | a0001 | c0002 | t0011 | g0075 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18992 | hp1 | a0001 | c0001 | t0001 | g0174 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18992 | hp2 | a0001 | c0002 | t0001 | g0072 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18993 | hp1 | a0001 | c0002 | t0001 | g0058 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18993 | hp2 | a0001 | c0001 | t0001 | g0026 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18999 | hp1 | a0001 | c0002 | t0001 | g0170 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA18999 | hp2 | a0001 | c0002 | t0001 | g0061 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19004 | hp1 | a0001 | c0002 | t0001 | g0063 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19005 | hp1 | a0001 | c0002 | t0001 | g0040 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19005 | hp2 | a0001 | c0002 | t0001 | g0113 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19007 | hp1 | a0001 | c0002 | t0001 | g0122 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19007 | hp2 | a0001 | c0001 | t0001 | g0202 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19012 | hp1 | a0001 | c0001 | t0001 | g0182 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19012 | hp2 | a0001 | c0002 | t0001 | g0073 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19030 | hp1 | a0001 | c0004 | t0001 | g0139 | AFR | LWK | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19030 | hp2 | a0001 | c0001 | t0001 | g0117 | AFR | LWK | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19043 | hp1 | a0001 | c0014 | t0003 | g0256 | AFR | LWK | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19043 | hp2 | a0001 | c0006 | t0001 | g0208 | AFR | LWK | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19054 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19054 | hp2 | a0001 | c0003 | t0014 | g0272 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19057 | hp2 | a0001 | c0002 | t0001 | g0060 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19065 | hp1 | a0001 | c0002 | t0001 | g0066 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19065 | hp2 | a0001 | c0003 | t0003 | g0271 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19066 | hp1 | a0001 | c0002 | t0001 | g0155 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19066 | hp2 | a0002 | c0005 | t0003 | g0247 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19067 | hp1 | a0001 | c0003 | t0001 | g0054 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19067 | hp2 | a0001 | c0002 | t0015 | g0011 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19068 | hp2 | a0002 | c0005 | t0003 | g0242 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19070 | hp1 | a0001 | c0003 | t0001 | g0053 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19070 | hp2 | a0001 | c0002 | t0001 | g0042 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19076 | hp1 | a0002 | c0005 | t0003 | g0243 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19076 | hp2 | a0001 | c0002 | t0001 | g0095 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19077 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19077 | hp2 | a0001 | c0003 | t0003 | g0253 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19086 | hp1 | a0001 | c0003 | t0003 | g0268 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19086 | hp2 | a0001 | c0002 | t0001 | g0121 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19089 | hp1 | a0001 | c0002 | t0001 | g0041 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19089 | hp2 | a0002 | c0005 | t0003 | g0249 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19090 | hp1 | a0001 | c0003 | t0003 | g0279 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19090 | hp2 | a0001 | c0002 | t0001 | g0055 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19091 | hp1 | a0001 | c0002 | t0001 | g0078 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19091 | hp2 | a0001 | c0002 | t0001 | g0081 | EAS | JPT | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19240 | hp1 | a0001 | c0001 | t0006 | g0224 | AFR | YRI | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA19240 | hp2 | a0001 | c0004 | t0001 | g0135 | AFR | YRI | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA20129 | hp1 | a0001 | c0001 | t0007 | g0019 | AFR | ASW | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0057 | AFR | ASW | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0152 | SAS | GIH | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0111 | SAS | GIH | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02109 | hp1 | a0001 | c0009 | t0013 | g0235 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02109 | hp2 | a0001 | c0007 | t0002 | g0044 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02486 | hp1 | a0001 | c0009 | t0013 | g0234 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02486 | hp2 | a0001 | c0004 | t0008 | g0295 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02559 | hp1 | a0001 | c0001 | t0002 | g0015 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG02559 | hp2 | a0001 | c0003 | t0005 | g0255 | AFR | ACB | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03471 | hp1 | a0001 | c0004 | t0001 | g0138 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG03471 | hp2 | a0001 | c0001 | t0006 | g0225 | AFR | MSL | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0030 | AFR | USA | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| HG06807 | hp2 | a0001 | c0001 | t0004 | g0291 | AFR | USA | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA20300 | hp1 | a0001 | c0004 | t0002 | g0145 | AFR | USA | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA20300 | hp2 | a0001 | c0001 | t0002 | g0212 | AFR | USA | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0198 | AFR | LWK | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| NA21309 | hp2 | a0001 | c0001 | t0001 | g0132 | AFR | LWK | PAH_chr12_102831889_102922244 | PAH | chr12 | 102831889 | 102922244 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:102846927 | C | A | 1 | a0005 | 1 | HG02293.hp1 | missense_variant | MODERATE | c.937G>T | p.Ala313Ser | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/13 | 1051/3759 | 937/1359 | 313/452 | chr12 | 102846927 | |||
| chr12:102852837 | T | C | 1 | a0004 | 1 | HG02257.hp1 | missense_variant | MODERATE | c.820A>G | p.Lys274Glu | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/13 | 934/3759 | 820/1359 | 274/452 | chr12 | 102852837 | |||
| chr12:102866605 | T | C | 1 | a0003 | 1 | HG01109.hp1 | missense_variant | MODERATE | c.500A>G | p.Asn167Ser | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/13 | 614/3759 | 500/1359 | 167/452 | chr12 | 102866605 | |||
| chr12:102912801 | C | T | 1 | a0002 | 9 | NA18747.hp1 NA18939.hp2 NA18954.hp1 others(6): Show |
missense_variant | MODERATE | c.158G>A | p.Arg53His | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/13 | 272/3759 | 158/1359 | 53/452 | chr12 | 102912801 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:102840437 | A | G | 4 | a0001c0004 a0001c0007 a0001c0015 others(1): Show |
22 | HG01109.hp1 HG01175.hp2 HG01243.hp1 others(19): Show |
synonymous_variant | LOW | c.1278T>C | p.Asn426Asn | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/13 | 1392/3759 | 1278/1359 | 426/452 | chr12 | 102840437 | |||
| chr12:102840473 | G | A | 1 | a0001c0012 | 1 | HG00323.hp2 | synonymous_variant | LOW | c.1242C>T | p.Tyr414Tyr | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/13 | 1356/3759 | 1242/1359 | 414/452 | chr12 | 102840473 | |||
| chr12:102843690 | G | C | 11 | a0001c0001 a0001c0002 a0001c0007 others(8): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
synonymous_variant | LOW | c.1155C>G | p.Leu385Leu | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/13 | 1269/3759 | 1155/1359 | 385/452 | chr12 | 102843690 | |||
| chr12:102846901 | G | A | 2 | a0001c0009 a0004c0013 |
6 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
synonymous_variant | LOW | c.963C>T | p.Leu321Leu | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/13 | 1077/3759 | 963/1359 | 321/452 | chr12 | 102846901 | |||
| chr12:102852885 | G | A | 1 | a0001c0014 | 1 | NA19043.hp1 | synonymous_variant | LOW | c.772C>T | p.Leu258Leu | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/13 | 886/3759 | 772/1359 | 258/452 | chr12 | 102852885 | |||
| chr12:102852922 | C | T | 2 | a0001c0002 a0001c0010 |
78 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
synonymous_variant | LOW | c.735G>A | p.Val245Val | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/13 | 849/3759 | 735/1359 | 245/452 | chr12 | 102852922 | |||
| chr12:102855146 | C | T | 8 | a0001c0001 a0001c0006 a0001c0007 others(5): Show |
160 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(157): Show |
synonymous_variant | LOW | c.696G>A | p.Gln232Gln | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/13 | 810/3759 | 696/1359 | 232/452 | chr12 | 102855146 | |||
| chr12:102855161 | C | T | 1 | a0001c0011 | 1 | HG01081.hp1 | synonymous_variant | LOW | c.681G>A | p.Leu227Leu | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/13 | 795/3759 | 681/1359 | 227/452 | chr12 | 102855161 | |||
| chr12:102855233 | G | A | 1 | a0001c0010 | 2 | HG01167.hp1 HG01169.hp1 |
synonymous_variant | LOW | c.609C>T | p.Cys203Cys | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/13 | 723/3759 | 609/1359 | 203/452 | chr12 | 102855233 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:102837205 | A | C | 6 | a0001c0001t0007 a0001c0003t0005 a0001c0004t0007 others(3): Show |
13 | HG02257.hp1 HG02451.hp1 HG02486.hp2 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*1970T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1970 | chr12 | 102837205 | ||||||
| chr12:102837358 | A | G | 1 | a0001c0001t0012 | 2 | HG02257.hp2 HG02615.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1817T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1817 | chr12 | 102837358 | ||||||
| chr12:102837862 | A | T | 1 | a0001c0002t0020 | 1 | HG02132.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1313T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1313 | chr12 | 102837862 | ||||||
| chr12:102837869 | T | TG | 5 | a0001c0001t0011 a0001c0002t0011 a0001c0003t0014 others(2): Show |
7 | HG01175.hp1 HG01258.hp2 HG02055.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*1305dupC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1305 | chr12 | 102837869 | ||||||
| chr12:102837873 | G | A | 1 | a0001c0002t0021 | 1 | HG03710.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1302C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1302 | chr12 | 102837873 | ||||||
| chr12:102837897 | G | A | 4 | a0001c0004t0026 a0001c0007t0010 a0001c0008t0023 others(1): Show |
6 | HG01175.hp2 HG01884.hp2 HG02280.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1278C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1278 | chr12 | 102837897 | ||||||
| chr12:102837946 | A | C | 1 | a0001c0004t0008 | 4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1229T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1229 | chr12 | 102837946 | ||||||
| chr12:102837951 | C | T | 1 | a0001c0002t0019 | 1 | NA18944.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1224G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1224 | chr12 | 102837951 | ||||||
| chr12:102838086 | T | A | 2 | a0001c0008t0018 a0001c0009t0013 |
3 | HG01496.hp1 HG02109.hp1 HG02486.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1089A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1089 | chr12 | 102838086 | ||||||
| chr12:102838119 | T | A | 1 | a0001c0001t0025 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1056A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1056 | chr12 | 102838119 | ||||||
| chr12:102838157 | C | T | 1 | a0001c0001t0025 | 1 | HG01891.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1018G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 1018 | chr12 | 102838157 | ||||||
| chr12:102838314 | A | G | 1 | a0001c0006t0016 | 1 | HG04228.hp1 | 3_prime_UTR_variant | MODIFIER | c.*861T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 861 | chr12 | 102838314 | ||||||
| chr12:102838399 | TTTAC | T | 1 | a0001c0001t0006 | 4 | HG02647.hp1 HG03225.hp2 HG03471.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*772_*775delGTAA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 772 | chr12 | 102838399 | ||||||
| chr12:102838523 | G | C | 1 | a0001c0002t0022 | 1 | NA18968.hp2 | 3_prime_UTR_variant | MODIFIER | c.*652C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 652 | chr12 | 102838523 | ||||||
| chr12:102838988 | C | T | 25 | a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(22): Show |
103 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(100): Show |
3_prime_UTR_variant | MODIFIER | c.*187G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 187 | chr12 | 102838988 | ||||||
| chr12:102839047 | C | T | 1 | a0001c0006t0016 | 1 | HG04228.hp1 | 3_prime_UTR_variant | MODIFIER | c.*128G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 13/13 | 128 | chr12 | 102839047 | ||||||
| chr12:102917139 | C | G | 1 | a0001c0002t0015 | 1 | NA19067.hp2 | 5_prime_UTR_variant | MODIFIER | c.-9G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/13 | 9 | chr12 | 102917139 | ||||||
| chr12:102917201 | T | G | 16 | a0001c0001t0003 a0001c0001t0004 a0001c0001t0025 others(13): Show |
69 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(66): Show |
5_prime_UTR_variant | MODIFIER | c.-71A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/13 | 71 | chr12 | 102917201 | ||||||
| chr12:102917211 | G | A | 3 | a0001c0001t0009 a0001c0004t0008 a0001c0004t0026 |
9 | HG00639.hp1 HG00741.hp2 HG01175.hp2 others(6): Show |
5_prime_UTR_variant | MODIFIER | c.-81C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/13 | 81 | chr12 | 102917211 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr12:102839253 | G | A | 4 | a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 others(1): Show |
4 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(1): Show |
intron_variant | MODIFIER | c.1316-35C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839253 | |||||||
| chr12:102839385 | G | A | 1 | a0001c0001t0002g0017 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1316-167C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839385 | |||||||
| chr12:102839404 | C | A | 1 | a0001c0001t0009g0301 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.1316-186G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839404 | |||||||
| chr12:102839455 | C | G | 1 | a0001c0001t0001g0126 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1316-237G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839455 | |||||||
| chr12:102839465 | C | A | 5 | a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0205 others(2): Show |
5 | HG02647.hp2 HG02717.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.1316-247G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839465 | |||||||
| chr12:102839504 | T | G | 4 | a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 others(1): Show |
4 | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(1): Show |
intron_variant | MODIFIER | c.1316-286A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839504 | |||||||
| chr12:102839683 | T | G | 9 | a0001c0001t0001g0032 a0001c0004t0001g0100 a0001c0004t0001g0135 others(6): Show |
9 | HG01109.hp1 HG01243.hp1 HG02615.hp1 others(6): Show |
intron_variant | MODIFIER | c.1316-465A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839683 | |||||||
| chr12:102839698 | T | C | 76 | a0001c0001t0001g0050 a0001c0001t0001g0087 a0001c0001t0001g0124 others(73): Show |
82 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(79): Show |
intron_variant | MODIFIER | c.1316-480A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839698 | |||||||
| chr12:102839961 | C | A | 1 | a0001c0001t0001g0028 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1315+439G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102839961 | |||||||
| chr12:102840040 | G | A | 24 | a0001c0001t0001g0022 a0001c0001t0002g0192 a0001c0001t0002g0205 others(21): Show |
24 | HG01891.hp1 HG02109.hp1 HG02109.hp2 others(21): Show |
intron_variant | MODIFIER | c.1315+360C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102840040 | |||||||
| chr12:102840058 | T | C | 3 | a0001c0001t0007g0020 a0001c0001t0007g0021 a0001c0003t0005g0255 |
3 | HG02559.hp2 HG02922.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.1315+342A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102840058 | |||||||
| chr12:102840236 | TG | T | 8 | a0001c0001t0002g0008 a0001c0001t0002g0017 a0001c0001t0002g0146 others(5): Show |
9 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.1315+163delC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102840236 | |||||||
| chr12:102840331 | C | T | 11 | a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0070 others(8): Show |
11 | HG01891.hp2 HG02055.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.1315+69G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102840331 | |||||||
| chr12:102840380 | G | A | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.1315+20C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 12/12 | chr12 | 102840380 | |||||||
| chr12:102840701 | A | G | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.1200-186T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102840701 | |||||||
| chr12:102840766 | G | A | 47 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(44): Show |
49 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(46): Show |
intron_variant | MODIFIER | c.1200-251C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102840766 | |||||||
| chr12:102840770 | G | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.1200-255C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102840770 | |||||||
| chr12:102840859 | G | T | 1 | a0001c0001t0001g0022 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1200-344C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102840859 | |||||||
| chr12:102840883 | C | T | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1200-368G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102840883 | |||||||
| chr12:102841047 | A | G | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1200-532T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841047 | |||||||
| chr12:102841258 | T | G | 7 | a0001c0001t0007g0019 a0001c0009t0005g0230 a0001c0009t0005g0231 others(4): Show |
7 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.1200-743A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841258 | |||||||
| chr12:102841280 | C | G | 14 | a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0136 others(11): Show |
14 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.1200-765G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841280 | |||||||
| chr12:102841283 | G | C | 1 | a0001c0001t0001g0198 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.1200-768C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841283 | |||||||
| chr12:102841344 | C | A | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01891.hp1 HG02145.hp2 HG02280.hp2 others(11): Show |
intron_variant | MODIFIER | c.1200-829G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841344 | |||||||
| chr12:102841385 | A | G | 1 | a0001c0001t0001g0022 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1200-870T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841385 | |||||||
| chr12:102841534 | G | A | 2 | a0001c0001t0001g0184 a0001c0001t0002g0183 |
2 | HG02698.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.1200-1019C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841534 | |||||||
| chr12:102841593 | T | C | 1 | a0001c0002t0011g0075 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.1200-1078A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841593 | |||||||
| chr12:102841606 | T | G | 1 | a0001c0001t0004g0289 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.1200-1091A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841606 | |||||||
| chr12:102841656 | C | T | 245 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(242): Show |
255 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(252): Show |
intron_variant | MODIFIER | c.1200-1141G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841656 | |||||||
| chr12:102841660 | C | T | 1 | a0001c0002t0011g0034 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.1200-1145G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841660 | |||||||
| chr12:102841706 | A | G | 1 | a0001c0006t0002g0206 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1200-1191T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841706 | |||||||
| chr12:102841797 | C | T | 1 | a0001c0003t0003g0286 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.1200-1282G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841797 | |||||||
| chr12:102841816 | G | C | 18 | a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0136 others(15): Show |
18 | HG01109.hp1 HG01175.hp2 HG01243.hp1 others(15): Show |
intron_variant | MODIFIER | c.1200-1301C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841816 | |||||||
| chr12:102841866 | T | G | 1 | a0001c0001t0002g0192 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1200-1351A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102841866 | |||||||
| chr12:102842167 | G | A | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1199+1479C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842167 | |||||||
| chr12:102842168 | G | C | 2 | a0001c0001t0002g0168 a0001c0001t0002g0169 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1199+1478C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842168 | |||||||
| chr12:102842250 | C | T | 8 | a0001c0001t0007g0019 a0001c0006t0001g0208 a0001c0009t0005g0230 others(5): Show |
8 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(5): Show |
intron_variant | MODIFIER | c.1199+1396G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842250 | |||||||
| chr12:102842311 | A | G | 3 | a0001c0007t0002g0044 a0001c0007t0017g0047 a0001c0015t0002g0143 |
3 | HG02109.hp2 HG02818.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.1199+1335T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842311 | |||||||
| chr12:102842456 | AAAAG | A | 3 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 |
3 | HG01884.hp1 HG02572.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.1199+1186_1199+118 others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842456 | |||||||
| chr12:102842473 | T | A | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1199+1173A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842473 | |||||||
| chr12:102842477 | C | T | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.1199+1169G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842477 | |||||||
| chr12:102842507 | C | G | 1 | a0001c0001t0004g0257 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.1199+1139G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842507 | |||||||
| chr12:102842532 | T | C | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1199+1114A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842532 | |||||||
| chr12:102842755 | T | G | 7 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 others(4): Show |
7 | HG01496.hp1 HG02280.hp2 HG02630.hp1 others(4): Show |
intron_variant | MODIFIER | c.1199+891A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102842755 | |||||||
| chr12:102843044 | T | C | 1 | a0001c0001t0006g0225 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1199+602A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102843044 | |||||||
| chr12:102843072 | T | C | 3 | a0001c0007t0002g0044 a0001c0007t0017g0047 a0001c0015t0002g0143 |
3 | HG02109.hp2 HG02818.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.1199+574A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102843072 | |||||||
| chr12:102843382 | C | T | 72 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(69): Show |
78 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.1199+264G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102843382 | |||||||
| chr12:102843422 | G | A | 1 | a0001c0001t0002g0192 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.1199+224C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102843422 | |||||||
| chr12:102843467 | G | A | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1199+179C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102843467 | |||||||
| chr12:102843488 | C | T | 1 | a0001c0002t0001g0078 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.1199+158G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 11/12 | chr12 | 102843488 | |||||||
| chr12:102843972 | C | G | 70 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.1066-193G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102843972 | |||||||
| chr12:102844015 | G | A | 60 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(57): Show |
63 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(60): Show |
intron_variant | MODIFIER | c.1066-236C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102844015 | |||||||
| chr12:102844131 | T | A | 80 | a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0004 others(77): Show |
86 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(83): Show |
intron_variant | MODIFIER | c.1065+205A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102844131 | |||||||
| chr12:102844180 | A | C | 70 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.1065+156T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102844180 | |||||||
| chr12:102844181 | A | G | 70 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.1065+155T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102844181 | |||||||
| chr12:102844239 | C | T | 80 | a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0004 others(77): Show |
86 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(83): Show |
intron_variant | MODIFIER | c.1065+97G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102844239 | |||||||
| chr12:102844276 | A | G | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.1065+60T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 10/12 | chr12 | 102844276 | |||||||
| chr12:102844541 | GTGTCTA | G | 84 | a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0004 others(81): Show |
90 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(87): Show |
intron_variant | MODIFIER | c.970-116_970-111del others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102844541 | |||||||
| chr12:102844626 | C | T | 80 | a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0004 others(77): Show |
86 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(83): Show |
intron_variant | MODIFIER | c.970-195G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102844626 | |||||||
| chr12:102844735 | A | T | 3 | a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0154 |
3 | HG00642.hp1 HG01106.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.970-304T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102844735 | |||||||
| chr12:102844922 | A | G | 1 | a0001c0002t0001g0083 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.970-491T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102844922 | |||||||
| chr12:102844924 | C | T | 1 | a0001c0001t0002g0192 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.970-493G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102844924 | |||||||
| chr12:102845011 | A | C | 10 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(7): Show |
10 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(7): Show |
intron_variant | MODIFIER | c.970-580T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845011 | |||||||
| chr12:102845061 | C | T | 1 | a0001c0001t0002g0207 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.970-630G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845061 | |||||||
| chr12:102845171 | T | C | 72 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(69): Show |
78 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.970-740A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845171 | |||||||
| chr12:102845191 | A | G | 1 | a0001c0001t0002g0183 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.970-760T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845191 | |||||||
| chr12:102845244 | G | T | 1 | a0003c0017t0001g0137 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.970-813C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845244 | |||||||
| chr12:102845274 | C | T | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.970-843G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845274 | |||||||
| chr12:102845283 | A | T | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.970-852T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845283 | |||||||
| chr12:102845414 | C | T | 234 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(231): Show |
244 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(241): Show |
intron_variant | MODIFIER | c.970-983G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845414 | |||||||
| chr12:102845653 | T | A | 1 | a0001c0001t0001g0202 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.970-1222A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845653 | |||||||
| chr12:102845730 | C | A | 2 | a0001c0002t0001g0065 a0001c0002t0015g0011 |
2 | NA18977.hp1 NA19067.hp2 |
intron_variant | MODIFIER | c.969+1165G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845730 | |||||||
| chr12:102845831 | T | C | 235 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(232): Show |
245 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(242): Show |
intron_variant | MODIFIER | c.969+1064A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845831 | |||||||
| chr12:102845858 | C | T | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.969+1037G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102845858 | |||||||
| chr12:102846012 | T | A | 1 | a0001c0002t0001g0148 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.969+883A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846012 | |||||||
| chr12:102846141 | A | C | 1 | a0001c0001t0003g0228 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.969+754T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846141 | |||||||
| chr12:102846289 | C | T | 79 | a0001c0001t0001g0022 a0001c0002t0001g0001 a0001c0002t0001g0004 others(76): Show |
85 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(82): Show |
intron_variant | MODIFIER | c.969+606G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846289 | |||||||
| chr12:102846374 | C | T | 4 | a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 others(1): Show |
4 | HG02647.hp1 HG03225.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.969+521G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846374 | |||||||
| chr12:102846674 | A | C | 70 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.969+221T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846674 | |||||||
| chr12:102846692 | A | G | 1 | a0001c0002t0001g0170 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.969+203T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846692 | |||||||
| chr12:102846852 | C | A | 61 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(58): Show |
64 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.969+43G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846852 | |||||||
| chr12:102846875 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.969+20G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 9/12 | chr12 | 102846875 | |||||||
| chr12:102847039 | G | C | 2 | a0001c0004t0002g0145 a0001c0004t0007g0140 |
2 | HG02630.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.913-88C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847039 | |||||||
| chr12:102847292 | T | C | 235 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(232): Show |
245 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(242): Show |
intron_variant | MODIFIER | c.913-341A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847292 | |||||||
| chr12:102847294 | T | C | 10 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(7): Show |
11 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(8): Show |
intron_variant | MODIFIER | c.913-343A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847294 | |||||||
| chr12:102847377 | G | A | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.913-426C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847377 | |||||||
| chr12:102847410 | A | G | 53 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(50): Show |
55 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.913-459T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847410 | |||||||
| chr12:102847501 | T | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.913-550A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847501 | |||||||
| chr12:102847554 | A | G | 1 | a0001c0001t0001g0132 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.913-603T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847554 | |||||||
| chr12:102847903 | C | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.913-952G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847903 | |||||||
| chr12:102847993 | A | G | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.913-1042T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102847993 | |||||||
| chr12:102848127 | C | G | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.913-1176G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848127 | |||||||
| chr12:102848135 | A | G | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.913-1184T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848135 | |||||||
| chr12:102848168 | CAGGACAC others(29): Show |
C | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1253_913-1218d others(38): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848168 | |||||||
| chr12:102848267 | AGGACACC others(98): Show |
A | 19 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(16): Show |
19 | HG01496.hp1 HG01891.hp1 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.913-1421_913-1317d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848267 | |||||||
| chr12:102848279 | G | C | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1328C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848279 | |||||||
| chr12:102848283 | G | A | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1332C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848283 | |||||||
| chr12:102848286 | G | A | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1335C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848286 | |||||||
| chr12:102848290 | T | C | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1339A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848290 | |||||||
| chr12:102848291 | TAAGTGTA others(168): Show |
T | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1515_913-1341d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848291 | |||||||
| chr12:102848319 | GAGAGGTG others(28): Show |
G | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1403_913-1369d others(37): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848319 | |||||||
| chr12:102848391 | A | G | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.913-1440T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848391 | |||||||
| chr12:102848407 | GGGACACC others(63): Show |
G | 69 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(66): Show |
71 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.913-1526_913-1457d others(72): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848407 | |||||||
| chr12:102848470 | G | T | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1519C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848470 | |||||||
| chr12:102848477 | A | G | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.913-1526T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848477 | |||||||
| chr12:102848500 | T | C | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1549A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848500 | |||||||
| chr12:102848505 | G | T | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1554C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848505 | |||||||
| chr12:102848506 | A | G | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1555T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848506 | |||||||
| chr12:102848518 | C | T | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1567G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848518 | |||||||
| chr12:102848536 | G | T | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1585C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848536 | |||||||
| chr12:102848551 | C | T | 1 | a0001c0002t0001g0180 | 1 | NA18957.hp1 | intron_variant | MODIFIER | c.913-1600G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848551 | |||||||
| chr12:102848559 | G | C | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1608C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848559 | |||||||
| chr12:102848570 | C | T | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1619G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848570 | |||||||
| chr12:102848571 | T | A | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1620A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848571 | |||||||
| chr12:102848575 | T | G | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1624A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848575 | |||||||
| chr12:102848579 | G | A | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1628C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848579 | |||||||
| chr12:102848588 | T | C | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1637A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848588 | |||||||
| chr12:102848596 | C | A | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1645G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848596 | |||||||
| chr12:102848605 | T | C | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1654A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848605 | |||||||
| chr12:102848610 | G | T | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1659C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848610 | |||||||
| chr12:102848618 | A | G | 163 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(160): Show |
167 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.913-1667T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848618 | |||||||
| chr12:102848631 | CTGGAGAG others(28): Show |
C | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1715_913-1681d others(37): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848631 | |||||||
| chr12:102848640 | T | C | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1689A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848640 | |||||||
| chr12:102848641 | A | G | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1690T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848641 | |||||||
| chr12:102848645 | G | A | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1694C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848645 | |||||||
| chr12:102848649 | A | G | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1698T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848649 | |||||||
| chr12:102848666 | A | C | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1715T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848666 | |||||||
| chr12:102848675 | C | T | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1724G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848675 | |||||||
| chr12:102848676 | T | A | 1 | a0001c0001t0009g0301 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.913-1725A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848676 | |||||||
| chr12:102848676 | T | G | 78 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(75): Show |
79 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(76): Show |
intron_variant | MODIFIER | c.913-1725A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848676 | |||||||
| chr12:102848680 | T | A | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1729A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848680 | |||||||
| chr12:102848680 | T | G | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1729A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848680 | |||||||
| chr12:102848689 | G | T | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.913-1738C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848689 | |||||||
| chr12:102848690 | A | T | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1739T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848690 | |||||||
| chr12:102848699 | C | G | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1748G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848699 | |||||||
| chr12:102848710 | C | T | 86 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(83): Show |
88 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(85): Show |
intron_variant | MODIFIER | c.913-1759G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848710 | |||||||
| chr12:102848711 | G | A | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1760C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848711 | |||||||
| chr12:102848711 | G | T | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1760C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848711 | |||||||
| chr12:102848715 | A | G | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.913-1764T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848715 | |||||||
| chr12:102848719 | G | A | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.913-1768C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848719 | |||||||
| chr12:102848721 | C | G | 2 | a0001c0001t0012g0141 a0001c0001t0012g0185 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.913-1770G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848721 | |||||||
| chr12:102848725 | A | T | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1774T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848725 | |||||||
| chr12:102848746 | T | A | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1795A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848746 | |||||||
| chr12:102848754 | G | A | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1803C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848754 | |||||||
| chr12:102848760 | T | A | 79 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(76): Show |
80 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(77): Show |
intron_variant | MODIFIER | c.913-1809A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848760 | |||||||
| chr12:102848842 | C | T | 15 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(12): Show |
15 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(12): Show |
intron_variant | MODIFIER | c.913-1891G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102848842 | |||||||
| chr12:102849000 | CAG | C | 3 | a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 |
3 | NA18942.hp2 NA19067.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.913-2051_913-2050d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849000 | |||||||
| chr12:102849065 | C | T | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.913-2114G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849065 | |||||||
| chr12:102849210 | G | C | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.913-2259C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849210 | |||||||
| chr12:102849273 | C | T | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.913-2322G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849273 | |||||||
| chr12:102849396 | A | AT | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.912+2290dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849396 | |||||||
| chr12:102849399 | C | T | 147 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(144): Show |
151 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.912+2288G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849399 | |||||||
| chr12:102849467 | G | A | 1 | a0001c0001t0001g0218 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.912+2220C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849467 | |||||||
| chr12:102849577 | T | C | 63 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(60): Show |
66 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.912+2110A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849577 | |||||||
| chr12:102849578 | A | G | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.912+2109T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849578 | |||||||
| chr12:102849579 | T | C | 1 | a0001c0001t0002g0193 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.912+2108A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849579 | |||||||
| chr12:102849785 | G | A | 1 | a0001c0002t0001g0096 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.912+1902C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849785 | |||||||
| chr12:102849798 | C | T | 1 | a0001c0001t0007g0019 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.912+1889G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849798 | |||||||
| chr12:102849823 | G | A | 63 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(60): Show |
66 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.912+1864C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849823 | |||||||
| chr12:102849829 | T | C | 84 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(81): Show |
85 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.912+1858A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849829 | |||||||
| chr12:102849999 | C | T | 1 | a0001c0003t0003g0286 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.912+1688G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102849999 | |||||||
| chr12:102850044 | T | C | 1 | a0001c0001t0002g0187 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.912+1643A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850044 | |||||||
| chr12:102850062 | G | A | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.912+1625C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850062 | |||||||
| chr12:102850105 | T | C | 1 | a0001c0001t0001g0076 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.912+1582A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850105 | |||||||
| chr12:102850235 | G | T | 158 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(155): Show |
162 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(159): Show |
intron_variant | MODIFIER | c.912+1452C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850235 | |||||||
| chr12:102850301 | A | C | 1 | a0001c0001t0001g0157 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.912+1386T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850301 | |||||||
| chr12:102850542 | T | G | 10 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(7): Show |
11 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(8): Show |
intron_variant | MODIFIER | c.912+1145A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850542 | |||||||
| chr12:102850898 | A | G | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.912+789T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850898 | |||||||
| chr12:102850900 | G | A | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.912+787C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102850900 | |||||||
| chr12:102851033 | G | A | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.912+654C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102851033 | |||||||
| chr12:102851043 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.912+644G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102851043 | |||||||
| chr12:102851088 | T | TA | 90 | a0001c0001t0001g0022 a0001c0001t0001g0154 a0001c0001t0001g0174 others(87): Show |
92 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(89): Show |
intron_variant | MODIFIER | c.912+598dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102851088 | |||||||
| chr12:102851088 | T | TAA | 64 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(61): Show |
66 | HG00140.hp2 HG00558.hp1 HG00642.hp2 others(63): Show |
intron_variant | MODIFIER | c.912+597_912+598dup others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102851088 | |||||||
| chr12:102851093 | G | A | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.912+594C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102851093 | |||||||
| chr12:102851458 | G | C | 15 | a0001c0001t0002g0009 a0001c0001t0002g0156 a0001c0001t0002g0175 others(12): Show |
16 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(13): Show |
intron_variant | MODIFIER | c.912+229C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 8/12 | chr12 | 102851458 | |||||||
| chr12:102852023 | C | T | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.843-267G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852023 | |||||||
| chr12:102852024 | A | G | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.843-268T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852024 | |||||||
| chr12:102852076 | T | C | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.843-320A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852076 | |||||||
| chr12:102852083 | C | A | 5 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(2): Show |
5 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.843-327G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852083 | |||||||
| chr12:102852280 | G | C | 1 | a0001c0001t0001g0194 | 1 | HG03942.hp1 | intron_variant | MODIFIER | c.843-524C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852280 | |||||||
| chr12:102852308 | A | C | 2 | a0001c0003t0003g0282 a0001c0003t0003g0283 |
2 | HG00408.hp2 HG00673.hp1 |
intron_variant | MODIFIER | c.842+507T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852308 | |||||||
| chr12:102852395 | A | G | 1 | a0001c0004t0001g0138 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.842+420T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852395 | |||||||
| chr12:102852483 | A | G | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.842+332T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852483 | |||||||
| chr12:102852485 | T | C | 1 | a0001c0002t0001g0043 | 1 | NA18963.hp2 | intron_variant | MODIFIER | c.842+330A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852485 | |||||||
| chr12:102852487 | T | C | 2 | a0001c0003t0003g0258 a0001c0003t0014g0273 |
2 | HG01257.hp2 HG01258.hp2 |
intron_variant | MODIFIER | c.842+328A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852487 | |||||||
| chr12:102852533 | C | T | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.842+282G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852533 | |||||||
| chr12:102852575 | A | T | 1 | a0001c0003t0003g0238 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.842+240T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852575 | |||||||
| chr12:102852614 | C | A | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.842+201G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852614 | |||||||
| chr12:102852623 | C | T | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.842+192G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 7/12 | chr12 | 102852623 | |||||||
| chr12:102852957 | T | A | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
splice_region_variant&intron_variant | LOW | c.707-7A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102852957 | |||||||
| chr12:102853097 | C | G | 1 | a0001c0002t0001g0119 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.707-147G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853097 | |||||||
| chr12:102853339 | G | A | 1 | a0001c0003t0003g0267 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.707-389C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853339 | |||||||
| chr12:102853557 | C | A | 3 | a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0202 |
3 | HG01358.hp1 NA18942.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.707-607G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853557 | |||||||
| chr12:102853577 | A | G | 10 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(7): Show |
11 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(8): Show |
intron_variant | MODIFIER | c.707-627T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853577 | |||||||
| chr12:102853705 | G | A | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.707-755C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853705 | |||||||
| chr12:102853708 | T | C | 2 | a0001c0001t0001g0007 a0001c0001t0001g0133 |
3 | HG01074.hp1 HG01255.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.707-758A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853708 | |||||||
| chr12:102853772 | A | G | 1 | a0001c0001t0009g0294 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.707-822T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853772 | |||||||
| chr12:102853786 | T | A | 81 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(78): Show |
84 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.707-836A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853786 | |||||||
| chr12:102853855 | A | G | 4 | a0001c0003t0003g0252 a0001c0003t0003g0258 a0001c0003t0003g0265 others(1): Show |
4 | HG00735.hp1 HG01081.hp2 HG01257.hp2 others(1): Show |
intron_variant | MODIFIER | c.707-905T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853855 | |||||||
| chr12:102853875 | A | T | 77 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.707-925T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853875 | |||||||
| chr12:102853889 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.707-939C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102853889 | |||||||
| chr12:102854058 | A | G | 63 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(60): Show |
66 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.706+1078T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854058 | |||||||
| chr12:102854239 | T | G | 77 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.706+897A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854239 | |||||||
| chr12:102854284 | C | G | 11 | a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0136 others(8): Show |
11 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.706+852G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854284 | |||||||
| chr12:102854329 | C | T | 4 | a0001c0001t0002g0008 a0001c0001t0002g0146 a0001c0001t0002g0147 others(1): Show |
5 | HG00741.hp1 HG01256.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.706+807G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854329 | |||||||
| chr12:102854362 | G | C | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.706+774C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854362 | |||||||
| chr12:102854494 | A | G | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.706+642T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854494 | |||||||
| chr12:102854523 | T | C | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.706+613A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854523 | |||||||
| chr12:102854656 | T | C | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.706+480A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854656 | |||||||
| chr12:102854685 | T | C | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.706+451A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854685 | |||||||
| chr12:102854701 | A | G | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.706+435T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854701 | |||||||
| chr12:102854810 | C | CAAACAAA others(3): Show |
1 | a0001c0002t0001g0091 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.706+316_706+325dup others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854810 | |||||||
| chr12:102854834 | A | C | 68 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(65): Show |
71 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.706+302T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102854834 | |||||||
| chr12:102855080 | C | T | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.706+56G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 6/12 | chr12 | 102855080 | |||||||
| chr12:102855378 | C | T | 1 | a0001c0001t0007g0019 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.510-46G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855378 | |||||||
| chr12:102855386 | C | T | 53 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(50): Show |
55 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.510-54G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855386 | |||||||
| chr12:102855540 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.510-208C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855540 | |||||||
| chr12:102855549 | G | A | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.510-217C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855549 | |||||||
| chr12:102855585 | C | T | 1 | a0001c0001t0001g0202 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.510-253G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855585 | |||||||
| chr12:102855586 | G | A | 7 | a0001c0006t0001g0208 a0001c0009t0005g0230 a0001c0009t0005g0231 others(4): Show |
7 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.510-254C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855586 | |||||||
| chr12:102855635 | G | A | 163 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(160): Show |
167 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.510-303C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855635 | |||||||
| chr12:102855654 | C | G | 1 | a0001c0001t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.510-322G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855654 | |||||||
| chr12:102855659 | C | T | 7 | a0001c0006t0001g0208 a0001c0009t0005g0230 a0001c0009t0005g0231 others(4): Show |
7 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.510-327G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855659 | |||||||
| chr12:102855846 | G | A | 1 | a0001c0002t0001g0080 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.510-514C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855846 | |||||||
| chr12:102855873 | G | A | 4 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(1): Show |
4 | HG00558.hp1 NA18966.hp2 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.510-541C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102855873 | |||||||
| chr12:102856008 | T | TAATTATA others(28): Show |
8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.510-711_510-677dup others(35): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856008 | |||||||
| chr12:102856047 | TATA | T | 77 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.510-718_510-716del others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856047 | |||||||
| chr12:102856061 | A | G | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.510-729T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856061 | |||||||
| chr12:102856078 | C | CTAAA | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-750_510-747dup others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856078 | |||||||
| chr12:102856129 | GA | G | 9 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(6): Show |
9 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.510-798delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856129 | |||||||
| chr12:102856174 | C | T | 81 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(78): Show |
84 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.510-842G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856174 | |||||||
| chr12:102856192 | A | G | 1 | a0001c0002t0001g0081 | 1 | NA19091.hp2 | intron_variant | MODIFIER | c.510-860T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856192 | |||||||
| chr12:102856212 | C | G | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.510-880G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856212 | |||||||
| chr12:102856260 | T | C | 9 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(6): Show |
9 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.510-928A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856260 | |||||||
| chr12:102856300 | C | T | 1 | a0001c0001t0001g0216 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.510-968G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856300 | |||||||
| chr12:102856333 | G | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.510-1001C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856333 | |||||||
| chr12:102856337 | A | T | 1 | a0001c0002t0003g0226 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.510-1005T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856337 | |||||||
| chr12:102856467 | A | T | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.510-1135T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856467 | |||||||
| chr12:102856520 | C | T | 54 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(51): Show |
55 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(52): Show |
intron_variant | MODIFIER | c.510-1188G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856520 | |||||||
| chr12:102856522 | T | C | 6 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(3): Show |
6 | HG01433.hp1 HG01928.hp1 HG01952.hp1 others(3): Show |
intron_variant | MODIFIER | c.510-1190A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856522 | |||||||
| chr12:102856604 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.510-1272C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856604 | |||||||
| chr12:102856609 | C | T | 1 | a0001c0011t0002g0082 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.510-1277G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856609 | |||||||
| chr12:102856610 | G | A | 1 | a0001c0001t0001g0102 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.510-1278C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856610 | |||||||
| chr12:102856682 | T | C | 106 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(103): Show |
112 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(109): Show |
intron_variant | MODIFIER | c.510-1350A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856682 | |||||||
| chr12:102856775 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.510-1443C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856775 | |||||||
| chr12:102856801 | A | G | 1 | a0001c0006t0001g0208 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.510-1469T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856801 | |||||||
| chr12:102856878 | G | A | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.510-1546C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856878 | |||||||
| chr12:102856934 | G | A | 1 | a0001c0001t0001g0068 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.510-1602C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856934 | |||||||
| chr12:102856955 | C | T | 67 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(64): Show |
70 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.510-1623G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102856955 | |||||||
| chr12:102857151 | A | G | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.510-1819T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857151 | |||||||
| chr12:102857324 | G | A | 1 | a0001c0004t0001g0142 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.510-1992C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857324 | |||||||
| chr12:102857343 | C | A | 1 | a0001c0001t0003g0228 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.510-2011G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857343 | |||||||
| chr12:102857393 | C | T | 1 | a0001c0001t0025g0229 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.510-2061G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857393 | |||||||
| chr12:102857411 | C | T | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.510-2079G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857411 | |||||||
| chr12:102857448 | A | G | 70 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.510-2116T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857448 | |||||||
| chr12:102857528 | C | T | 4 | a0001c0003t0001g0118 a0001c0003t0003g0238 a0001c0003t0003g0239 others(1): Show |
4 | HG00597.hp2 HG02040.hp1 HG02129.hp1 others(1): Show |
intron_variant | MODIFIER | c.510-2196G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857528 | |||||||
| chr12:102857553 | A | G | 1 | a0001c0002t0001g0120 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.510-2221T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857553 | |||||||
| chr12:102857628 | G | T | 1 | a0001c0006t0004g0292 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.510-2296C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857628 | |||||||
| chr12:102857645 | C | G | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.510-2313G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857645 | |||||||
| chr12:102857717 | A | C | 12 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(9): Show |
12 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.510-2385T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857717 | |||||||
| chr12:102857729 | T | C | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.510-2397A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857729 | |||||||
| chr12:102857897 | C | T | 156 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(153): Show |
160 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(157): Show |
intron_variant | MODIFIER | c.510-2565G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857897 | |||||||
| chr12:102857914 | A | G | 2 | a0001c0001t0002g0013 a0001c0001t0002g0014 |
2 | HG01167.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.510-2582T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102857914 | |||||||
| chr12:102858006 | C | A | 1 | a0001c0003t0003g0279 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.510-2674G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858006 | |||||||
| chr12:102858088 | G | A | 1 | a0001c0003t0003g0262 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.510-2756C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858088 | |||||||
| chr12:102858152 | T | C | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-2820A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858152 | |||||||
| chr12:102858184 | T | A | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-2852A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858184 | |||||||
| chr12:102858202 | A | G | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.510-2870T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858202 | |||||||
| chr12:102858210 | T | A | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-2878A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858210 | |||||||
| chr12:102858214 | A | C | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-2882T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858214 | |||||||
| chr12:102858287 | G | A | 67 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(64): Show |
70 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.510-2955C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858287 | |||||||
| chr12:102858355 | A | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.510-3023T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858355 | |||||||
| chr12:102858381 | C | T | 2 | a0001c0001t0004g0280 a0001c0001t0004g0281 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.510-3049G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858381 | |||||||
| chr12:102858436 | G | A | 1 | a0001c0002t0020g0079 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.510-3104C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858436 | |||||||
| chr12:102858548 | T | A | 1 | a0001c0003t0003g0268 | 1 | NA19086.hp1 | intron_variant | MODIFIER | c.510-3216A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858548 | |||||||
| chr12:102858595 | T | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.510-3263A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858595 | |||||||
| chr12:102858609 | A | T | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-3277T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858609 | |||||||
| chr12:102858652 | G | A | 163 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(160): Show |
167 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.510-3320C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858652 | |||||||
| chr12:102858693 | G | C | 2 | a0001c0001t0002g0013 a0001c0001t0002g0014 |
2 | HG01167.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.510-3361C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858693 | |||||||
| chr12:102858757 | G | A | 6 | a0001c0002t0001g0005 a0001c0002t0001g0077 a0001c0002t0001g0088 others(3): Show |
7 | HG01257.hp1 HG01496.hp2 HG01928.hp2 others(4): Show |
intron_variant | MODIFIER | c.510-3425C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858757 | |||||||
| chr12:102858760 | G | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.510-3428C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858760 | |||||||
| chr12:102858833 | G | A | 2 | a0001c0001t0001g0151 a0001c0014t0003g0256 |
2 | HG02723.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.510-3501C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858833 | |||||||
| chr12:102858863 | A | G | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.510-3531T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858863 | |||||||
| chr12:102858951 | G | A | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.510-3619C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102858951 | |||||||
| chr12:102859013 | C | CA | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.510-3682dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859013 | |||||||
| chr12:102859152 | G | A | 1 | a0001c0002t0001g0110 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.510-3820C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859152 | |||||||
| chr12:102859336 | C | T | 2 | a0001c0002t0001g0041 a0001c0002t0001g0067 |
2 | NA18944.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.510-4004G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859336 | |||||||
| chr12:102859360 | A | T | 3 | a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0007t0002g0173 |
3 | HG02451.hp2 HG03098.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.510-4028T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859360 | |||||||
| chr12:102859379 | G | A | 67 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(64): Show |
70 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(67): Show |
intron_variant | MODIFIER | c.510-4047C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859379 | |||||||
| chr12:102859511 | G | A | 10 | a0001c0004t0001g0100 a0001c0004t0001g0136 a0001c0004t0001g0138 others(7): Show |
10 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.510-4179C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859511 | |||||||
| chr12:102859574 | A | G | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.510-4242T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859574 | |||||||
| chr12:102859721 | A | G | 1 | a0001c0003t0003g0262 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.510-4389T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859721 | |||||||
| chr12:102859726 | A | G | 10 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(7): Show |
11 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(8): Show |
intron_variant | MODIFIER | c.510-4394T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859726 | |||||||
| chr12:102859813 | G | A | 1 | a0001c0015t0002g0143 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.510-4481C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859813 | |||||||
| chr12:102859968 | G | A | 1 | a0001c0002t0011g0034 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.510-4636C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102859968 | |||||||
| chr12:102860006 | C | G | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.510-4674G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860006 | |||||||
| chr12:102860007 | G | A | 1 | a0001c0001t0002g0207 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.510-4675C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860007 | |||||||
| chr12:102860020 | GA | G | 10 | a0001c0004t0001g0100 a0001c0004t0001g0136 a0001c0004t0001g0138 others(7): Show |
10 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.510-4689delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860020 | |||||||
| chr12:102860116 | T | G | 2 | a0001c0001t0002g0195 a0001c0001t0002g0200 |
2 | HG01106.hp1 HG03834.hp1 |
intron_variant | MODIFIER | c.510-4784A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860116 | |||||||
| chr12:102860353 | G | A | 14 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(11): Show |
15 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(12): Show |
intron_variant | MODIFIER | c.510-5021C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860353 | |||||||
| chr12:102860504 | C | CA | 163 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(160): Show |
167 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.510-5173dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860504 | |||||||
| chr12:102860510 | T | G | 163 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(160): Show |
167 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(164): Show |
intron_variant | MODIFIER | c.510-5178A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860510 | |||||||
| chr12:102860511 | A | G | 1 | a0001c0002t0001g0106 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.510-5179T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860511 | |||||||
| chr12:102860516 | G | A | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.510-5184C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860516 | |||||||
| chr12:102860564 | C | A | 53 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(50): Show |
55 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(52): Show |
intron_variant | MODIFIER | c.510-5232G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860564 | |||||||
| chr12:102860573 | C | A | 10 | a0001c0004t0001g0100 a0001c0004t0001g0136 a0001c0004t0001g0138 others(7): Show |
10 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.510-5241G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860573 | |||||||
| chr12:102860858 | T | C | 1 | a0001c0001t0001g0202 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.510-5526A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860858 | |||||||
| chr12:102860896 | G | A | 14 | a0001c0004t0001g0100 a0001c0004t0001g0136 a0001c0004t0001g0138 others(11): Show |
14 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.510-5564C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102860896 | |||||||
| chr12:102861032 | T | C | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.509+5564A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861032 | |||||||
| chr12:102861114 | C | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.509+5482G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861114 | |||||||
| chr12:102861242 | A | G | 159 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(156): Show |
163 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(160): Show |
intron_variant | MODIFIER | c.509+5354T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861242 | |||||||
| chr12:102861320 | G | A | 5 | a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 others(2): Show |
5 | NA18944.hp1 NA18963.hp2 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.509+5276C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861320 | |||||||
| chr12:102861388 | G | T | 12 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(9): Show |
12 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.509+5208C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861388 | |||||||
| chr12:102861450 | C | A | 80 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(77): Show |
83 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(80): Show |
intron_variant | MODIFIER | c.509+5146G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861450 | |||||||
| chr12:102861494 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.509+5102C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861494 | |||||||
| chr12:102861637 | A | G | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.509+4959T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861637 | |||||||
| chr12:102861766 | G | A | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.509+4830C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861766 | |||||||
| chr12:102861835 | T | C | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.509+4761A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861835 | |||||||
| chr12:102861843 | G | A | 72 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(69): Show |
78 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.509+4753C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861843 | |||||||
| chr12:102861849 | G | T | 77 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.509+4747C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861849 | |||||||
| chr12:102861935 | G | A | 8 | a0001c0001t0002g0211 a0001c0001t0009g0300 a0001c0001t0009g0301 others(5): Show |
8 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.509+4661C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861935 | |||||||
| chr12:102861966 | T | TA | 12 | a0001c0001t0001g0022 a0001c0001t0001g0046 a0001c0001t0002g0008 others(9): Show |
13 | HG00741.hp1 HG01069.hp1 HG01081.hp1 others(10): Show |
intron_variant | MODIFIER | c.509+4629dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861966 | |||||||
| chr12:102861966 | T | TAA | 25 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0024 others(22): Show |
27 | HG00140.hp2 HG00738.hp1 HG01074.hp1 others(24): Show |
intron_variant | MODIFIER | c.509+4628_509+4629d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861966 | |||||||
| chr12:102861966 | T | TAAA | 43 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(40): Show |
43 | HG00099.hp2 HG00323.hp2 HG00558.hp1 others(40): Show |
intron_variant | MODIFIER | c.509+4627_509+4629d others(5): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861966 | |||||||
| chr12:102861966 | T | TAAAA | 60 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0182 others(57): Show |
61 | HG00323.hp1 HG00639.hp1 HG00639.hp2 others(58): Show |
intron_variant | MODIFIER | c.509+4626_509+4629d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861966 | |||||||
| chr12:102861966 | TA | T | 26 | a0001c0002t0001g0060 a0001c0002t0001g0078 a0001c0002t0001g0081 others(23): Show |
26 | HG01081.hp2 HG01109.hp1 HG01175.hp2 others(23): Show |
intron_variant | MODIFIER | c.509+4629delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861966 | |||||||
| chr12:102861966 | TAA | T | 15 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(12): Show |
15 | HG01496.hp1 HG01891.hp1 HG02145.hp2 others(12): Show |
intron_variant | MODIFIER | c.509+4628_509+4629d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861966 | |||||||
| chr12:102861970 | A | T | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.509+4626T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861970 | |||||||
| chr12:102861972 | A | T | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.509+4624T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861972 | |||||||
| chr12:102861986 | A | G | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.509+4610T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102861986 | |||||||
| chr12:102862072 | T | G | 1 | a0001c0004t0002g0145 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.509+4524A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862072 | |||||||
| chr12:102862218 | T | C | 250 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(247): Show |
260 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show |
intron_variant | MODIFIER | c.509+4378A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862218 | |||||||
| chr12:102862237 | C | A | 8 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(5): Show |
8 | HG01167.hp2 HG01884.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.509+4359G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862237 | |||||||
| chr12:102862393 | A | T | 162 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(159): Show |
166 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.509+4203T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862393 | |||||||
| chr12:102862572 | A | T | 83 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(80): Show |
84 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(81): Show |
intron_variant | MODIFIER | c.509+4024T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862572 | |||||||
| chr12:102862573 | A | T | 1 | a0001c0001t0002g0183 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.509+4023T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862573 | |||||||
| chr12:102862738 | G | C | 70 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(68): Show |
intron_variant | MODIFIER | c.509+3858C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862738 | |||||||
| chr12:102862773 | T | C | 72 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(69): Show |
78 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.509+3823A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862773 | |||||||
| chr12:102862784 | T | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.509+3812A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862784 | |||||||
| chr12:102862889 | A | T | 1 | a0001c0001t0001g0102 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.509+3707T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862889 | |||||||
| chr12:102862946 | G | GA | 66 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(63): Show |
69 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(66): Show |
intron_variant | MODIFIER | c.509+3649dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862946 | |||||||
| chr12:102862982 | C | T | 11 | a0001c0002t0001g0031 a0001c0002t0001g0060 a0001c0002t0001g0061 others(8): Show |
11 | NA18948.hp2 NA18954.hp2 NA18957.hp1 others(8): Show |
intron_variant | MODIFIER | c.509+3614G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862982 | |||||||
| chr12:102862984 | C | T | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.509+3612G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102862984 | |||||||
| chr12:102863441 | G | C | 16 | a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0136 others(13): Show |
16 | HG01109.hp1 HG01175.hp2 HG01243.hp1 others(13): Show |
intron_variant | MODIFIER | c.509+3155C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863441 | |||||||
| chr12:102863530 | T | C | 162 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(159): Show |
166 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(163): Show |
intron_variant | MODIFIER | c.509+3066A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863530 | |||||||
| chr12:102863558 | G | A | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.509+3038C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863558 | |||||||
| chr12:102863598 | A | T | 1 | a0001c0001t0009g0301 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.509+2998T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863598 | |||||||
| chr12:102863621 | G | A | 1 | a0001c0002t0001g0095 | 1 | NA19076.hp2 | intron_variant | MODIFIER | c.509+2975C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863621 | |||||||
| chr12:102863763 | G | C | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.509+2833C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863763 | |||||||
| chr12:102863824 | A | T | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.509+2772T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863824 | |||||||
| chr12:102863826 | A | C | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.509+2770T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102863826 | |||||||
| chr12:102864098 | A | G | 145 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(142): Show |
149 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(146): Show |
intron_variant | MODIFIER | c.509+2498T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102864098 | |||||||
| chr12:102864124 | C | T | 1 | a0001c0002t0001g0170 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.509+2472G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102864124 | |||||||
| chr12:102864805 | C | CA | 19 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(16): Show |
19 | HG01496.hp1 HG01884.hp2 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.509+1790dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102864805 | |||||||
| chr12:102864805 | C | CAA | 77 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.509+1789_509+1790d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102864805 | |||||||
| chr12:102864805 | C | CAAA | 68 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(65): Show |
71 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(68): Show |
intron_variant | MODIFIER | c.509+1788_509+1790d others(5): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102864805 | |||||||
| chr12:102864902 | T | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.509+1694A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102864902 | |||||||
| chr12:102865145 | T | G | 77 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(74): Show |
78 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(75): Show |
intron_variant | MODIFIER | c.509+1451A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102865145 | |||||||
| chr12:102865170 | T | C | 1 | a0001c0009t0005g0231 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.509+1426A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102865170 | |||||||
| chr12:102865501 | A | G | 72 | a0001c0001t0001g0087 a0001c0002t0001g0001 a0001c0002t0001g0004 others(69): Show |
78 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(75): Show |
intron_variant | MODIFIER | c.509+1095T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102865501 | |||||||
| chr12:102865757 | C | T | 1 | a0001c0009t0005g0230 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.509+839G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102865757 | |||||||
| chr12:102865809 | T | A | 4 | a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 others(1): Show |
4 | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(1): Show |
intron_variant | MODIFIER | c.509+787A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102865809 | |||||||
| chr12:102865920 | A | C | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.509+676T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102865920 | |||||||
| chr12:102866051 | AG | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.509+544delC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866051 | |||||||
| chr12:102866070 | G | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.509+526C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866070 | |||||||
| chr12:102866075 | C | G | 16 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(13): Show |
16 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.509+521G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866075 | |||||||
| chr12:102866083 | G | GA | 20 | a0001c0002t0001g0055 a0001c0003t0003g0264 a0001c0003t0003g0279 others(17): Show |
20 | HG01109.hp1 HG01175.hp2 HG01243.hp1 others(17): Show |
intron_variant | MODIFIER | c.509+512dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866083 | |||||||
| chr12:102866083 | G | GAAA | 16 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(13): Show |
16 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.509+510_509+512dup others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866083 | |||||||
| chr12:102866083 | G | GAAAA | 61 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(58): Show |
64 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(61): Show |
intron_variant | MODIFIER | c.509+509_509+512dup others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866083 | |||||||
| chr12:102866096 | C | A | 4 | a0001c0006t0002g0206 a0001c0006t0004g0287 a0001c0006t0004g0288 others(1): Show |
4 | HG02723.hp1 HG02895.hp1 HG02896.hp2 others(1): Show |
intron_variant | MODIFIER | c.509+500G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866096 | |||||||
| chr12:102866253 | T | C | 2 | a0001c0006t0002g0206 a0001c0006t0004g0292 |
2 | HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.509+343A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866253 | |||||||
| chr12:102866280 | T | A | 2 | a0001c0001t0012g0141 a0001c0001t0012g0185 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.509+316A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866280 | |||||||
| chr12:102866371 | A | C | 1 | a0001c0001t0001g0050 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.509+225T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866371 | |||||||
| chr12:102866441 | A | C | 15 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(12): Show |
16 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(13): Show |
intron_variant | MODIFIER | c.509+155T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866441 | |||||||
| chr12:102866456 | C | T | 2 | a0001c0006t0002g0206 a0001c0006t0004g0292 |
2 | HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.509+140G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866456 | |||||||
| chr12:102866495 | T | G | 71 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(68): Show |
77 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.509+101A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866495 | |||||||
| chr12:102866543 | C | A | 1 | a0001c0001t0002g0191 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.509+53G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 5/12 | chr12 | 102866543 | |||||||
| chr12:102866695 | G | C | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.442-32C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102866695 | |||||||
| chr12:102866830 | T | C | 66 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(63): Show |
69 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(66): Show |
intron_variant | MODIFIER | c.442-167A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102866830 | |||||||
| chr12:102866856 | T | C | 80 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(77): Show |
83 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(80): Show |
intron_variant | MODIFIER | c.442-193A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102866856 | |||||||
| chr12:102866886 | G | A | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.442-223C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102866886 | |||||||
| chr12:102866972 | T | C | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(11): Show |
intron_variant | MODIFIER | c.442-309A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102866972 | |||||||
| chr12:102867001 | A | C | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.442-338T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867001 | |||||||
| chr12:102867041 | T | C | 71 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(68): Show |
77 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.442-378A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867041 | |||||||
| chr12:102867184 | C | A | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-521G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867184 | |||||||
| chr12:102867184 | C | T | 11 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(8): Show |
11 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-521G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867184 | |||||||
| chr12:102867194 | G | A | 4 | a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 others(1): Show |
4 | HG02647.hp1 HG03225.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-531C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867194 | |||||||
| chr12:102867240 | A | T | 3 | a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0154 |
3 | HG00642.hp1 HG01106.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.442-577T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867240 | |||||||
| chr12:102867463 | G | A | 12 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(9): Show |
12 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.442-800C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867463 | |||||||
| chr12:102867492 | A | C | 71 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(68): Show |
77 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.442-829T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867492 | |||||||
| chr12:102867498 | T | C | 1 | a0001c0001t0007g0019 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.442-835A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867498 | |||||||
| chr12:102867801 | TTTTCTCT others(7): Show |
T | 2 | a0001c0001t0001g0107 a0001c0001t0001g0108 |
2 | HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.442-1152_442-1139d others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867801 | |||||||
| chr12:102867838 | C | CCT | 71 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(68): Show |
72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.442-1177_442-1176d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867838 | |||||||
| chr12:102867850 | T | TATGTATA others(23): Show |
7 | a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 others(4): Show |
7 | HG02523.hp2 HG02559.hp2 HG04204.hp2 others(4): Show |
intron_variant | MODIFIER | c.442-1217_442-1188d others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867850 | |||||||
| chr12:102867850 | T | TATGTATA others(53): Show |
3 | a0001c0004t0001g0136 a0001c0004t0002g0145 a0001c0004t0007g0140 |
3 | HG02630.hp2 HG03516.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.442-1247_442-1188d others(62): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867850 | |||||||
| chr12:102867850 | T | TATGTATA others(83): Show |
11 | a0001c0004t0001g0100 a0001c0004t0001g0138 a0001c0004t0001g0139 others(8): Show |
11 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-1277_442-1188d others(92): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867850 | |||||||
| chr12:102867850 | TATGTATA others(23): Show |
T | 85 | a0001c0001t0001g0023 a0001c0001t0002g0205 a0001c0001t0004g0280 others(82): Show |
91 | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
intron_variant | MODIFIER | c.442-1217_442-1188d others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867850 | |||||||
| chr12:102867850 | TATGTATA others(53): Show |
T | 1 | a0001c0002t0001g0062 | 1 | HG00140.hp1 | intron_variant | MODIFIER | c.442-1247_442-1188d others(62): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867850 | |||||||
| chr12:102867853 | G | GTATATAC others(25): Show |
2 | a0001c0006t0002g0206 a0001c0006t0004g0292 |
2 | HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.442-1222_442-1191d others(34): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867853 | |||||||
| chr12:102867863 | A | ATATAGAT others(175): Show |
1 | a0001c0009t0013g0235 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.442-1201_442-1200i others(184): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867863 | |||||||
| chr12:102867863 | A | C | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1200T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867863 | |||||||
| chr12:102867893 | A | C | 11 | a0001c0006t0001g0208 a0001c0008t0001g0130 a0001c0008t0001g0131 others(8): Show |
11 | HG01496.hp1 HG02109.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-1230T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867893 | |||||||
| chr12:102867898 | G | GATGTATA others(23): Show |
11 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(8): Show |
12 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1236_442-1235i others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867898 | |||||||
| chr12:102867911 | A | G | 9 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(6): Show |
9 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-1248T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867911 | |||||||
| chr12:102867923 | A | C | 11 | a0001c0006t0001g0208 a0001c0008t0001g0130 a0001c0008t0001g0131 others(8): Show |
11 | HG01496.hp1 HG02109.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-1260T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867923 | |||||||
| chr12:102867924 | T | TATAGATG others(23): Show |
2 | a0001c0001t0002g0013 a0001c0001t0002g0014 |
2 | HG01167.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.442-1262_442-1261i others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867924 | |||||||
| chr12:102867927 | AGATG | A | 3 | a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0154 |
3 | HG00642.hp1 HG01106.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.442-1268_442-1265d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867927 | |||||||
| chr12:102867941 | A | G | 13 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(10): Show |
13 | HG01891.hp1 HG02145.hp2 HG02622.hp1 others(10): Show |
intron_variant | MODIFIER | c.442-1278T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867941 | |||||||
| chr12:102867950 | C | CATATATA others(17): Show |
1 | a0001c0009t0013g0235 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.442-1311_442-1288d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867950 | |||||||
| chr12:102867950 | C | CATCTATA others(107): Show |
4 | a0001c0009t0005g0231 a0001c0009t0005g0233 a0001c0009t0013g0234 others(1): Show |
4 | HG02257.hp1 HG02486.hp1 HG02886.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-1288_442-1287i others(116): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867950 | |||||||
| chr12:102867950 | C | CATCTATA others(107): Show |
2 | a0001c0006t0001g0208 a0001c0009t0005g0230 |
2 | HG03139.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.442-1288_442-1287i others(116): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867950 | |||||||
| chr12:102867950 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1287G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867950 | |||||||
| chr12:102867953 | A | C | 5 | a0001c0003t0003g0286 a0001c0008t0001g0130 a0001c0008t0001g0131 others(2): Show |
5 | HG01496.hp1 HG02572.hp2 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-1290T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867953 | |||||||
| chr12:102867958 | G | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1295C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867958 | |||||||
| chr12:102867969 | A | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1306T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867969 | |||||||
| chr12:102867970 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1307G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867970 | |||||||
| chr12:102867971 | A | ATGTATAT others(23): Show |
75 | a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0048 others(72): Show |
77 | HG00140.hp2 HG00323.hp1 HG00639.hp2 others(74): Show |
intron_variant | MODIFIER | c.442-1309_442-1308i others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867971 | |||||||
| chr12:102867971 | A | ATGTATAT others(23): Show |
2 | a0001c0001t0001g0024 a0001c0002t0011g0034 |
2 | HG00738.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.442-1309_442-1308i others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867971 | |||||||
| chr12:102867971 | A | G | 60 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(57): Show |
61 | HG00099.hp2 HG00558.hp1 HG00642.hp1 others(58): Show |
intron_variant | MODIFIER | c.442-1308T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867971 | |||||||
| chr12:102867973 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1310C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867973 | |||||||
| chr12:102867976 | T | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1313A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867976 | |||||||
| chr12:102867980 | T | C | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1317A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867980 | |||||||
| chr12:102867981 | AGATG | A | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1322_442-1319d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867981 | |||||||
| chr12:102867982 | G | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1319C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867982 | |||||||
| chr12:102867984 | T | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1321A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867984 | |||||||
| chr12:102867985 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1322C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867985 | |||||||
| chr12:102867988 | TA | T | 59 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(56): Show |
60 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(57): Show |
intron_variant | MODIFIER | c.442-1326delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867988 | |||||||
| chr12:102867989 | AT | A | 17 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
18 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1327delA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867989 | |||||||
| chr12:102867993 | C | G | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1330G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867993 | |||||||
| chr12:102867993 | C | T | 1 | a0001c0002t0001g0149 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.442-1330G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867993 | |||||||
| chr12:102867996 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.442-1333C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102867996 | |||||||
| chr12:102868000 | ATATG | A | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1341_442-1338d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868000 | |||||||
| chr12:102868001 | T | G | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.442-1338A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868001 | |||||||
| chr12:102868001 | T | TACATATA others(15): Show |
1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1339_442-1338i others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868001 | |||||||
| chr12:102868002 | A | ACATCTAT others(5): Show |
1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1340_442-1339i others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868002 | |||||||
| chr12:102868004 | G | A | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1341C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868004 | |||||||
| chr12:102868009 | T | C | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1346A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868009 | |||||||
| chr12:102868011 | C | T | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1348G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868011 | |||||||
| chr12:102868012 | A | G | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1349T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868012 | |||||||
| chr12:102868015 | T | C | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.442-1352A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868015 | |||||||
| chr12:102868016 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.442-1353T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868016 | |||||||
| chr12:102868018 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.442-1355T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868018 | |||||||
| chr12:102868019 | C | T | 2 | a0001c0001t0001g0074 a0001c0004t0026g0299 |
2 | HG01175.hp2 HG03831.hp1 |
intron_variant | MODIFIER | c.442-1356G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868019 | |||||||
| chr12:102868027 | C | G | 17 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
18 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1364G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868027 | |||||||
| chr12:102868032 | A | G | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.442-1369T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868032 | |||||||
| chr12:102868037 | C | T | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1374G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868037 | |||||||
| chr12:102868038 | ACCTATAT others(43): Show |
A | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.442-1425_442-1376d others(52): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868038 | |||||||
| chr12:102868039 | C | G | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1376G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868039 | |||||||
| chr12:102868039 | C | T | 3 | a0001c0006t0002g0206 a0001c0006t0004g0292 a0001c0008t0018g0210 |
3 | HG01496.hp1 HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.442-1376G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868039 | |||||||
| chr12:102868040 | C | A | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1377G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868040 | |||||||
| chr12:102868040 | C | G | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1377G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868040 | |||||||
| chr12:102868042 | A | G | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1379T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868042 | |||||||
| chr12:102868048 | A | ATG | 71 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(68): Show |
77 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.442-1387_442-1386d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868048 | |||||||
| chr12:102868049 | T | C | 147 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 others(144): Show |
150 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(147): Show |
intron_variant | MODIFIER | c.442-1386A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868049 | |||||||
| chr12:102868049 | T | G | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1386A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868049 | |||||||
| chr12:102868050 | G | A | 19 | a0001c0001t0001g0003 a0001c0001t0001g0022 a0001c0001t0001g0045 others(16): Show |
20 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.442-1387C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868050 | |||||||
| chr12:102868051 | T | G | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1388A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868051 | |||||||
| chr12:102868051 | TATATATA others(5): Show |
T | 2 | a0001c0006t0002g0206 a0001c0006t0004g0292 |
2 | HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.442-1400_442-1389d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868051 | |||||||
| chr12:102868052 | A | G | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1389T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868052 | |||||||
| chr12:102868054 | A | G | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1391T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868054 | |||||||
| chr12:102868058 | A | AT | 3 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 |
4 | HG01069.hp1 HG01243.hp2 NA18948.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1396dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868058 | |||||||
| chr12:102868058 | A | G | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1395T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868058 | |||||||
| chr12:102868058 | A | T | 12 | a0001c0001t0002g0159 a0001c0001t0002g0193 a0001c0001t0002g0211 others(9): Show |
12 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1395T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868058 | |||||||
| chr12:102868059 | T | C | 6 | a0001c0001t0001g0022 a0001c0001t0002g0017 a0001c0001t0002g0018 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-1396A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868059 | |||||||
| chr12:102868061 | C | T | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1398G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868061 | |||||||
| chr12:102868062 | ACATATAT others(19): Show |
A | 15 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(12): Show |
16 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1425_442-1400d others(28): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868062 | |||||||
| chr12:102868063 | C | T | 2 | a0001c0004t0026g0299 a0001c0008t0018g0210 |
2 | HG01175.hp2 HG01496.hp1 |
intron_variant | MODIFIER | c.442-1400G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868063 | |||||||
| chr12:102868064 | A | G | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1401T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868064 | |||||||
| chr12:102868065 | T | C | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1402A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868065 | |||||||
| chr12:102868070 | A | G | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.442-1407T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868070 | |||||||
| chr12:102868071 | T | C | 10 | a0001c0006t0001g0208 a0001c0008t0001g0130 a0001c0008t0001g0131 others(7): Show |
10 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-1408A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868071 | |||||||
| chr12:102868073 | C | G | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1410G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868073 | |||||||
| chr12:102868076 | A | G | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1413T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868076 | |||||||
| chr12:102868078 | ATGTGTGT others(3): Show |
A | 1 | a0001c0008t0001g0130 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.442-1425_442-1416d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868078 | |||||||
| chr12:102868080 | G | A | 9 | a0001c0004t0026g0299 a0001c0006t0001g0208 a0001c0008t0018g0210 others(6): Show |
9 | HG01175.hp2 HG01496.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-1417C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868080 | |||||||
| chr12:102868081 | T | C | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1418A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868081 | |||||||
| chr12:102868081 | T | TAC | 4 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(1): Show |
4 | HG02109.hp1 HG02886.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1419_442-1418i others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868081 | |||||||
| chr12:102868082 | G | A | 9 | a0001c0004t0026g0299 a0001c0006t0001g0208 a0001c0008t0018g0210 others(6): Show |
9 | HG01175.hp2 HG01496.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-1419C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868082 | |||||||
| chr12:102868083 | T | C | 2 | a0001c0006t0001g0208 a0004c0013t0005g0232 |
2 | HG02257.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.442-1420A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868083 | |||||||
| chr12:102868084 | G | A | 7 | a0001c0006t0001g0208 a0001c0009t0005g0230 a0001c0009t0005g0231 others(4): Show |
7 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.442-1421C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868084 | |||||||
| chr12:102868084 | G | GTATATAC others(3): Show |
1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1422_442-1421i others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868084 | |||||||
| chr12:102868084 | GTGTGTAT others(95): Show |
G | 2 | a0001c0001t0003g0228 a0001c0002t0011g0034 |
2 | HG00642.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.442-1523_442-1422d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868084 | |||||||
| chr12:102868084 | GTGTGTAT others(97): Show |
G | 58 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 others(55): Show |
60 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(57): Show |
intron_variant | MODIFIER | c.442-1525_442-1422d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868084 | |||||||
| chr12:102868084 | GTGTGTAT others(99): Show |
G | 1 | a0001c0001t0001g0056 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.442-1527_442-1422d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868084 | |||||||
| chr12:102868086 | G | A | 8 | a0001c0004t0026g0299 a0001c0006t0001g0208 a0001c0008t0018g0210 others(5): Show |
8 | HG01175.hp2 HG01496.hp1 HG02109.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-1423C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868086 | |||||||
| chr12:102868086 | GTGTATAT others(95): Show |
G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-1525_442-1424d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868086 | |||||||
| chr12:102868086 | GTGTATAT others(99): Show |
G | 14 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(11): Show |
14 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(11): Show |
intron_variant | MODIFIER | c.442-1529_442-1424d others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868086 | |||||||
| chr12:102868088 | G | A | 6 | a0001c0004t0026g0299 a0001c0006t0001g0208 a0001c0008t0001g0131 others(3): Show |
6 | HG01175.hp2 HG01496.hp1 HG02257.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-1425C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868088 | |||||||
| chr12:102868088 | GTATATAT others(43): Show |
G | 1 | a0001c0003t0005g0255 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.442-1475_442-1426d others(52): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868088 | |||||||
| chr12:102868088 | GTATATAT others(89): Show |
G | 1 | a0001c0001t0002g0188 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.442-1521_442-1426d others(98): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868088 | |||||||
| chr12:102868088 | GTATATAT others(91): Show |
G | 58 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(55): Show |
59 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(56): Show |
intron_variant | MODIFIER | c.442-1523_442-1426d others(100): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868088 | |||||||
| chr12:102868088 | GTATATAT others(93): Show |
G | 2 | a0001c0006t0002g0206 a0001c0006t0004g0292 |
2 | HG02723.hp1 HG02896.hp2 |
intron_variant | MODIFIER | c.442-1525_442-1426d others(102): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868088 | |||||||
| chr12:102868090 | A | G | 93 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(90): Show |
100 | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(97): Show |
intron_variant | MODIFIER | c.442-1427T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868090 | |||||||
| chr12:102868091 | T | C | 2 | a0001c0008t0001g0131 a0001c0008t0001g0223 |
2 | HG02630.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.442-1428A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868091 | |||||||
| chr12:102868092 | A | G | 3 | a0001c0006t0001g0208 a0001c0008t0018g0210 a0004c0013t0005g0232 |
3 | HG01496.hp1 HG02257.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.442-1429T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868092 | |||||||
| chr12:102868093 | T | C | 1 | a0001c0008t0001g0130 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.442-1430A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868093 | |||||||
| chr12:102868094 | A | G | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.442-1431T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868094 | |||||||
| chr12:102868098 | A | G | 18 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(15): Show |
19 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(16): Show |
intron_variant | MODIFIER | c.442-1435T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868098 | |||||||
| chr12:102868099 | T | C | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1436A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868099 | |||||||
| chr12:102868100 | A | G | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.442-1437T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868100 | |||||||
| chr12:102868102 | A | G | 1 | a0001c0008t0001g0130 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.442-1439T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868102 | |||||||
| chr12:102868105 | C | T | 4 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 others(1): Show |
4 | HG01496.hp1 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1442G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868105 | |||||||
| chr12:102868107 | C | T | 19 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(16): Show |
20 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(17): Show |
intron_variant | MODIFIER | c.442-1444G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868107 | |||||||
| chr12:102868113 | T | C | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1450A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868113 | |||||||
| chr12:102868114 | A | G | 2 | a0001c0003t0001g0199 a0001c0003t0003g0253 |
2 | NA18963.hp1 NA19077.hp2 |
intron_variant | MODIFIER | c.442-1451T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868114 | |||||||
| chr12:102868117 | C | T | 17 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
18 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1454G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868117 | |||||||
| chr12:102868119 | T | C | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.442-1456A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868119 | |||||||
| chr12:102868121 | T | C | 17 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
18 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1458A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868121 | |||||||
| chr12:102868122 | A | ATG | 4 | a0001c0003t0003g0278 a0001c0003t0003g0283 a0001c0003t0003g0284 others(1): Show |
4 | HG00609.hp1 HG00673.hp1 HG02165.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-1461_442-1460d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868122 | |||||||
| chr12:102868123 | T | C | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1460A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868123 | |||||||
| chr12:102868124 | G | A | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.442-1461C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868124 | |||||||
| chr12:102868124 | G | C | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1461C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868124 | |||||||
| chr12:102868126 | G | A | 17 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
18 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1463C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868126 | |||||||
| chr12:102868126 | G | GTA | 13 | a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0104 others(10): Show |
13 | HG00099.hp1 HG00735.hp2 HG01192.hp2 others(10): Show |
intron_variant | MODIFIER | c.442-1465_442-1464d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868126 | |||||||
| chr12:102868126 | GTA | G | 5 | a0001c0003t0001g0199 a0001c0003t0003g0010 a0001c0003t0003g0251 others(2): Show |
6 | HG03491.hp1 HG03492.hp2 HG04199.hp2 others(3): Show |
intron_variant | MODIFIER | c.442-1465_442-1464d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868126 | |||||||
| chr12:102868126 | GTATATAT others(5): Show |
G | 7 | a0001c0006t0001g0208 a0001c0009t0005g0230 a0001c0009t0005g0231 others(4): Show |
7 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(4): Show |
intron_variant | MODIFIER | c.442-1475_442-1464d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868126 | |||||||
| chr12:102868126 | GTATATAT others(45): Show |
G | 14 | a0001c0003t0003g0286 a0001c0004t0001g0100 a0001c0004t0001g0136 others(11): Show |
14 | HG01109.hp1 HG01243.hp1 HG02451.hp1 others(11): Show |
intron_variant | MODIFIER | c.442-1515_442-1464d others(54): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868126 | |||||||
| chr12:102868126 | GTATATAT others(47): Show |
G | 1 | a0001c0004t0008g0295 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.442-1517_442-1464d others(56): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868126 | |||||||
| chr12:102868128 | A | G | 1 | a0001c0003t0003g0282 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.442-1465T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868128 | |||||||
| chr12:102868128 | ATATATAT others(41): Show |
A | 57 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(54): Show |
63 | HG00140.hp1 HG00558.hp2 HG00597.hp1 others(60): Show |
intron_variant | MODIFIER | c.442-1513_442-1466d others(50): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868128 | |||||||
| chr12:102868130 | ATATATAT others(39): Show |
A | 10 | a0001c0002t0001g0055 a0001c0002t0001g0059 a0001c0002t0001g0064 others(7): Show |
10 | HG00408.hp1 HG01257.hp1 HG02132.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-1513_442-1468d others(48): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868130 | |||||||
| chr12:102868131 | T | C | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1468A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868131 | |||||||
| chr12:102868132 | ATATATAT others(37): Show |
A | 3 | a0001c0002t0001g0066 a0001c0002t0001g0080 a0001c0002t0001g0092 |
3 | HG01516.hp1 HG03654.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.442-1513_442-1470d others(46): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868132 | |||||||
| chr12:102868133 | T | C | 17 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(14): Show |
18 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(15): Show |
intron_variant | MODIFIER | c.442-1470A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868133 | |||||||
| chr12:102868134 | A | C | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1471T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868134 | |||||||
| chr12:102868134 | A | G | 2 | a0001c0004t0026g0299 a0001c0008t0018g0210 |
2 | HG01175.hp2 HG01496.hp1 |
intron_variant | MODIFIER | c.442-1471T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868134 | |||||||
| chr12:102868136 | A | G | 4 | a0001c0004t0026g0299 a0001c0008t0001g0130 a0001c0008t0001g0131 others(1): Show |
4 | HG01175.hp2 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1473T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868136 | |||||||
| chr12:102868136 | ATATATAT others(33): Show |
A | 1 | a0001c0002t0001g0091 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.442-1513_442-1474d others(42): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868136 | |||||||
| chr12:102868138 | A | G | 4 | a0001c0004t0026g0299 a0001c0008t0001g0130 a0001c0008t0001g0131 others(1): Show |
4 | HG01175.hp2 HG02630.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-1475T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868138 | |||||||
| chr12:102868143 | T | C | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1480A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868143 | |||||||
| chr12:102868144 | A | G | 16 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(13): Show |
17 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(14): Show |
intron_variant | MODIFIER | c.442-1481T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868144 | |||||||
| chr12:102868145 | T | C | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1482A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868145 | |||||||
| chr12:102868147 | T | C | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1484A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868147 | |||||||
| chr12:102868155 | C | T | 1 | a0001c0008t0001g0130 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.442-1492G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868155 | |||||||
| chr12:102868159 | T | C | 1 | a0001c0003t0001g0112 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.442-1496A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868159 | |||||||
| chr12:102868167 | C | T | 3 | a0001c0003t0003g0254 a0001c0003t0003g0275 a0005c0016t0003g0276 |
3 | HG00735.hp2 HG02293.hp1 HG02300.hp1 |
intron_variant | MODIFIER | c.442-1504G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868167 | |||||||
| chr12:102868172 | A | ATG | 5 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(2): Show |
5 | HG02257.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-1511_442-1510d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868172 | |||||||
| chr12:102868176 | G | GTA | 12 | a0001c0003t0003g0258 a0001c0003t0003g0265 a0001c0003t0014g0273 others(9): Show |
12 | HG01081.hp2 HG01257.hp2 HG01258.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1515_442-1514d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868176 | |||||||
| chr12:102868176 | GTATA | G | 12 | a0001c0001t0002g0159 a0001c0001t0002g0193 a0001c0001t0002g0211 others(9): Show |
12 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1517_442-1514d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868176 | |||||||
| chr12:102868176 | GTATATA | G | 3 | a0001c0008t0001g0130 a0001c0008t0001g0131 a0001c0008t0001g0223 |
3 | HG02630.hp1 HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.442-1519_442-1514d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868176 | |||||||
| chr12:102868176 | GTATATAT others(3): Show |
G | 4 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(1): Show |
5 | HG01069.hp1 HG01243.hp2 HG03831.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-1523_442-1514d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868176 | |||||||
| chr12:102868178 | A | G | 1 | a0001c0009t0013g0235 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.442-1515T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868178 | |||||||
| chr12:102868180 | A | G | 10 | a0001c0004t0001g0100 a0001c0004t0001g0136 a0001c0004t0001g0138 others(7): Show |
10 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(7): Show |
intron_variant | MODIFIER | c.442-1517T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868180 | |||||||
| chr12:102868182 | A | G | 12 | a0001c0001t0002g0159 a0001c0001t0002g0193 a0001c0001t0002g0211 others(9): Show |
12 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1519T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868182 | |||||||
| chr12:102868184 | A | G | 12 | a0001c0001t0002g0159 a0001c0001t0002g0193 a0001c0001t0002g0211 others(9): Show |
12 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1521T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868184 | |||||||
| chr12:102868186 | A | G | 12 | a0001c0001t0002g0159 a0001c0001t0002g0193 a0001c0001t0002g0211 others(9): Show |
12 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-1523T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868186 | |||||||
| chr12:102868188 | A | ATATACAC others(19): Show |
1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1526_442-1525i others(28): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868188 | |||||||
| chr12:102868188 | A | G | 7 | a0001c0001t0001g0003 a0001c0001t0001g0045 a0001c0001t0001g0046 others(4): Show |
8 | HG01069.hp1 HG01243.hp2 HG02451.hp2 others(5): Show |
intron_variant | MODIFIER | c.442-1525T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868188 | |||||||
| chr12:102868234 | A | G | 1 | a0001c0003t0003g0264 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.442-1571T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868234 | |||||||
| chr12:102868255 | T | A | 11 | a0001c0006t0001g0208 a0001c0008t0001g0130 a0001c0008t0001g0131 others(8): Show |
11 | HG01496.hp1 HG02109.hp1 HG02257.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-1592A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868255 | |||||||
| chr12:102868313 | C | A | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.442-1650G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868313 | |||||||
| chr12:102868435 | A | AT | 16 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(13): Show |
16 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.442-1773dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868435 | |||||||
| chr12:102868495 | G | A | 1 | a0001c0001t0001g0048 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.442-1832C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868495 | |||||||
| chr12:102868508 | G | A | 1 | a0001c0001t0004g0257 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.442-1845C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868508 | |||||||
| chr12:102868663 | TA | T | 150 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(147): Show |
154 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(151): Show |
intron_variant | MODIFIER | c.442-2001delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868663 | |||||||
| chr12:102868663 | TAA | T | 13 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(10): Show |
13 | HG01884.hp2 HG01891.hp1 HG02145.hp2 others(10): Show |
intron_variant | MODIFIER | c.442-2002_442-2001d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868663 | |||||||
| chr12:102868759 | T | C | 66 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(63): Show |
69 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(66): Show |
intron_variant | MODIFIER | c.442-2096A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868759 | |||||||
| chr12:102868836 | C | T | 1 | a0001c0010t0001g0002 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.442-2173G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868836 | |||||||
| chr12:102868911 | T | C | 1 | a0001c0002t0001g0089 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.442-2248A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102868911 | |||||||
| chr12:102869008 | A | G | 8 | a0001c0006t0001g0208 a0001c0008t0018g0210 a0001c0009t0005g0230 others(5): Show |
8 | HG01496.hp1 HG02109.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-2345T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869008 | |||||||
| chr12:102869126 | C | T | 71 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(68): Show |
72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.442-2463G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869126 | |||||||
| chr12:102869367 | A | C | 140 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(137): Show |
144 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(141): Show |
intron_variant | MODIFIER | c.442-2704T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869367 | |||||||
| chr12:102869482 | C | T | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.442-2819G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869482 | |||||||
| chr12:102869651 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-2988G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869651 | |||||||
| chr12:102869705 | A | C | 1 | a0001c0001t0006g0221 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.442-3042T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869705 | |||||||
| chr12:102869706 | G | A | 15 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(12): Show |
15 | HG00642.hp2 HG01884.hp1 HG01884.hp2 others(12): Show |
intron_variant | MODIFIER | c.442-3043C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869706 | |||||||
| chr12:102869756 | C | T | 4 | a0001c0003t0003g0264 a0002c0005t0003g0242 a0002c0005t0003g0244 others(1): Show |
4 | NA18983.hp2 NA18985.hp1 NA19066.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-3093G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869756 | |||||||
| chr12:102869799 | C | T | 60 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(57): Show |
61 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(58): Show |
intron_variant | MODIFIER | c.442-3136G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869799 | |||||||
| chr12:102869803 | C | A | 8 | a0001c0006t0001g0208 a0001c0008t0018g0210 a0001c0009t0005g0230 others(5): Show |
8 | HG01496.hp1 HG02109.hp1 HG02257.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-3140G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869803 | |||||||
| chr12:102869803 | C | T | 79 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 others(76): Show |
85 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(82): Show |
intron_variant | MODIFIER | c.442-3140G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869803 | |||||||
| chr12:102869804 | G | A | 66 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(63): Show |
67 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(64): Show |
intron_variant | MODIFIER | c.442-3141C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869804 | |||||||
| chr12:102869824 | C | T | 81 | a0001c0001t0001g0125 a0001c0001t0002g0012 a0001c0001t0002g0013 others(78): Show |
87 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(84): Show |
intron_variant | MODIFIER | c.442-3161G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102869824 | |||||||
| chr12:102870141 | G | T | 6 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0006t0002g0206 others(3): Show |
6 | HG02258.hp1 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-3478C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870141 | |||||||
| chr12:102870341 | A | T | 230 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(227): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.442-3678T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870341 | |||||||
| chr12:102870461 | G | A | 1 | a0001c0001t0002g0192 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.442-3798C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870461 | |||||||
| chr12:102870508 | A | G | 1 | a0001c0010t0001g0002 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.442-3845T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870508 | |||||||
| chr12:102870561 | A | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.442-3898T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870561 | |||||||
| chr12:102870834 | G | T | 1 | a0001c0007t0002g0173 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.442-4171C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870834 | |||||||
| chr12:102870873 | T | C | 1 | a0001c0002t0001g0093 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.442-4210A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870873 | |||||||
| chr12:102870887 | T | G | 11 | a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0136 others(8): Show |
11 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.442-4224A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102870887 | |||||||
| chr12:102871087 | T | C | 1 | a0001c0002t0001g0153 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.442-4424A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871087 | |||||||
| chr12:102871126 | T | G | 230 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(227): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.442-4463A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871126 | |||||||
| chr12:102871135 | A | G | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.442-4472T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871135 | |||||||
| chr12:102871325 | T | A | 1 | a0001c0001t0002g0008 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.442-4662A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871325 | |||||||
| chr12:102871373 | G | C | 4 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(1): Show |
4 | HG02257.hp1 HG02886.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-4710C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871373 | |||||||
| chr12:102871421 | G | A | 3 | a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0154 |
3 | HG00642.hp1 HG01106.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.442-4758C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871421 | |||||||
| chr12:102871511 | G | T | 149 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(146): Show |
153 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(150): Show |
intron_variant | MODIFIER | c.442-4848C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871511 | |||||||
| chr12:102871561 | T | C | 68 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(65): Show |
69 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(66): Show |
intron_variant | MODIFIER | c.442-4898A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871561 | |||||||
| chr12:102871642 | G | T | 3 | a0001c0003t0003g0010 a0001c0003t0003g0251 a0001c0003t0003g0259 |
4 | HG01168.hp2 HG03491.hp1 HG03492.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-4979C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871642 | |||||||
| chr12:102871877 | A | G | 231 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(228): Show |
241 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.442-5214T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871877 | |||||||
| chr12:102871886 | C | T | 10 | a0001c0001t0011g0129 a0001c0006t0001g0208 a0001c0006t0016g0158 others(7): Show |
10 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-5223G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871886 | |||||||
| chr12:102871931 | AAAAAAAA others(17): Show |
A | 2 | a0001c0001t0001g0051 a0001c0002t0011g0075 |
2 | HG03654.hp1 NA18985.hp2 |
intron_variant | MODIFIER | c.442-5292_442-5269d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871931 | |||||||
| chr12:102871931 | AAAAAAAA others(19): Show |
A | 1 | a0001c0002t0001g0177 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.442-5294_442-5269d others(28): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871931 | |||||||
| chr12:102871931 | AAAAAAAA others(21): Show |
A | 4 | a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0121 others(1): Show |
4 | NA18954.hp2 NA18982.hp2 NA19005.hp2 others(1): Show |
intron_variant | MODIFIER | c.442-5296_442-5269d others(30): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871931 | |||||||
| chr12:102871932 | AAAAAAAA others(12): Show |
A | 1 | a0001c0001t0002g0008 | 2 | HG01256.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.442-5288_442-5270d others(21): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871932 | |||||||
| chr12:102871932 | AAAAAAAA others(14): Show |
A | 3 | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0011t0002g0082 |
3 | HG00741.hp1 HG01081.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.442-5290_442-5270d others(23): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871932 | |||||||
| chr12:102871932 | AAAAAAAA others(16): Show |
A | 2 | a0001c0001t0001g0194 a0001c0001t0002g0156 |
2 | HG02004.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.442-5292_442-5270d others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871932 | |||||||
| chr12:102871932 | AAAAAAAA others(18): Show |
A | 5 | a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 others(2): Show |
5 | NA18992.hp2 NA18999.hp1 NA18999.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-5294_442-5270d others(27): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871932 | |||||||
| chr12:102871933 | AAAAAAAA others(15): Show |
A | 1 | a0001c0001t0001g0201 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.442-5292_442-5271d others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871933 | |||||||
| chr12:102871933 | AAAAAAAA others(17): Show |
A | 1 | a0001c0001t0001g0024 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.442-5294_442-5271d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871933 | |||||||
| chr12:102871933 | AAAAAAAA others(19): Show |
A | 2 | a0001c0002t0001g0001 a0001c0002t0001g0180 |
2 | NA18951.hp1 NA18957.hp1 |
intron_variant | MODIFIER | c.442-5296_442-5271d others(28): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871933 | |||||||
| chr12:102871933 | AAAAAAAA others(21): Show |
A | 44 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(41): Show |
48 | HG00140.hp1 HG00597.hp1 HG00609.hp2 others(45): Show |
intron_variant | MODIFIER | c.442-5298_442-5271d others(30): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871933 | |||||||
| chr12:102871934 | A | T | 1 | a0001c0001t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.442-5271T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871934 | |||||||
| chr12:102871934 | AAAAAAAA others(12): Show |
A | 6 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 others(3): Show |
6 | HG01928.hp1 HG01952.hp1 HG01978.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-5290_442-5272d others(21): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871934 | |||||||
| chr12:102871934 | AAAAAAAA others(16): Show |
A | 32 | a0001c0001t0001g0068 a0001c0001t0001g0179 a0001c0001t0001g0197 others(29): Show |
33 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(30): Show |
intron_variant | MODIFIER | c.442-5294_442-5272d others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871934 | |||||||
| chr12:102871934 | AAAAAAAA others(18): Show |
A | 8 | a0001c0001t0002g0195 a0001c0002t0001g0153 a0001c0002t0001g0204 others(5): Show |
8 | HG02451.hp1 HG02486.hp2 HG02738.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-5296_442-5272d others(27): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871934 | |||||||
| chr12:102871934 | AAAAAAAA others(20): Show |
A | 2 | a0001c0002t0001g0073 a0001c0002t0001g0088 |
2 | HG01496.hp2 NA19012.hp2 |
intron_variant | MODIFIER | c.442-5298_442-5272d others(29): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871934 | |||||||
| chr12:102871935 | AAAAAAAA others(15): Show |
A | 5 | a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0002g0164 others(2): Show |
6 | HG01074.hp1 HG01255.hp2 HG01433.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-5294_442-5273d others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871935 | |||||||
| chr12:102871935 | AAAAAAAA others(17): Show |
A | 9 | a0001c0001t0001g0003 a0001c0001t0001g0030 a0001c0001t0001g0045 others(6): Show |
10 | HG01069.hp1 HG01243.hp2 HG02148.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-5296_442-5273d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871935 | |||||||
| chr12:102871935 | AAAAAAAA others(21): Show |
A | 10 | a0001c0002t0001g0041 a0001c0002t0001g0059 a0001c0002t0001g0066 others(7): Show |
11 | HG00408.hp1 HG01167.hp1 HG01169.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-5300_442-5273d others(30): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871935 | |||||||
| chr12:102871936 | AAAAAAAA others(8): Show |
A | 1 | a0001c0001t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.442-5288_442-5274d others(17): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871936 | |||||||
| chr12:102871936 | AAAAAAAA others(12): Show |
A | 2 | a0001c0007t0010g0035 a0001c0007t0010g0037 |
2 | HG02280.hp2 HG02895.hp2 |
intron_variant | MODIFIER | c.442-5292_442-5274d others(21): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871936 | |||||||
| chr12:102871936 | AAAAAAAA others(14): Show |
A | 3 | a0001c0001t0002g0018 a0001c0001t0002g0159 a0001c0006t0016g0158 |
3 | HG01981.hp1 HG02976.hp1 HG04228.hp1 |
intron_variant | MODIFIER | c.442-5294_442-5274d others(23): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871936 | |||||||
| chr12:102871936 | AAAAAAAA others(16): Show |
A | 5 | a0001c0001t0001g0174 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
5 | HG01358.hp1 HG03579.hp1 NA18992.hp1 others(2): Show |
intron_variant | MODIFIER | c.442-5296_442-5274d others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871936 | |||||||
| chr12:102871936 | AAAAAAAA others(20): Show |
A | 4 | a0001c0001t0003g0228 a0001c0001t0025g0229 a0001c0008t0023g0237 others(1): Show |
4 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(1): Show |
intron_variant | MODIFIER | c.442-5300_442-5274d others(29): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871936 | |||||||
| chr12:102871937 | A | T | 2 | a0001c0006t0004g0287 a0001c0006t0004g0288 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.442-5274T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871937 | |||||||
| chr12:102871937 | AAAAAAAA others(15): Show |
A | 8 | a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0109 others(5): Show |
8 | HG00140.hp2 HG00642.hp1 HG02615.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-5296_442-5275d others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871937 | |||||||
| chr12:102871937 | AAAAAAAA others(17): Show |
A | 29 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(26): Show |
29 | HG00099.hp2 HG00558.hp1 HG01074.hp2 others(26): Show |
intron_variant | MODIFIER | c.442-5298_442-5275d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871937 | |||||||
| chr12:102871937 | AAAAAAAA others(19): Show |
A | 1 | a0001c0001t0004g0227 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.442-5300_442-5275d others(28): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871937 | |||||||
| chr12:102871937 | AAAAAAAA others(21): Show |
A | 1 | a0001c0002t0003g0226 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.442-5302_442-5275d others(30): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871937 | |||||||
| chr12:102871938 | AAAAAAAA others(14): Show |
A | 2 | a0001c0001t0001g0069 a0001c0001t0001g0071 |
2 | HG01106.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.442-5296_442-5276d others(23): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871938 | |||||||
| chr12:102871938 | AAAAAAAA others(16): Show |
A | 2 | a0001c0001t0001g0184 a0001c0001t0002g0012 |
2 | HG03486.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.442-5298_442-5276d others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871938 | |||||||
| chr12:102871938 | AAAAAAAA others(18): Show |
A | 2 | a0001c0001t0001g0070 a0001c0001t0001g0215 |
2 | HG01891.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.442-5300_442-5276d others(27): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871938 | |||||||
| chr12:102871938 | AAAAAAAA others(22): Show |
A | 2 | a0001c0004t0001g0139 a0003c0017t0001g0137 |
2 | HG01109.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.442-5304_442-5276d others(31): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871938 | |||||||
| chr12:102871939 | A | T | 6 | a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0290 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-5276T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871939 | |||||||
| chr12:102871939 | AAAAAAAA others(13): Show |
A | 1 | a0001c0001t0001g0022 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.442-5296_442-5277d others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871939 | |||||||
| chr12:102871939 | AAAAAAAA others(15): Show |
A | 5 | a0001c0001t0001g0057 a0001c0001t0001g0102 a0001c0001t0001g0117 others(2): Show |
5 | HG02922.hp1 HG03453.hp1 NA19030.hp2 others(2): Show |
intron_variant | MODIFIER | c.442-5298_442-5277d others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871939 | |||||||
| chr12:102871939 | AAAAAAAA others(17): Show |
A | 7 | a0001c0001t0001g0087 a0001c0001t0002g0183 a0001c0001t0002g0211 others(4): Show |
7 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(4): Show |
intron_variant | MODIFIER | c.442-5300_442-5277d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871939 | |||||||
| chr12:102871939 | AAAAAAAA others(19): Show |
A | 6 | a0001c0004t0001g0136 a0001c0004t0001g0142 a0001c0004t0001g0144 others(3): Show |
6 | HG01243.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-5302_442-5277d others(28): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871939 | |||||||
| chr12:102871939 | AAAAAAAA others(21): Show |
A | 2 | a0001c0004t0001g0100 a0001c0004t0001g0138 |
2 | HG03471.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.442-5304_442-5277d others(30): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871939 | |||||||
| chr12:102871940 | AAAAAAAA others(14): Show |
A | 1 | a0001c0001t0007g0021 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.442-5298_442-5278d others(23): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871940 | |||||||
| chr12:102871940 | AAAAAAAA others(18): Show |
A | 1 | a0001c0001t0009g0294 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.442-5302_442-5278d others(27): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871940 | |||||||
| chr12:102871941 | A | T | 8 | a0001c0001t0002g0150 a0001c0001t0004g0280 a0001c0001t0004g0281 others(5): Show |
8 | HG02258.hp1 HG02895.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.442-5278T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871941 | |||||||
| chr12:102871941 | AAAAAAAA others(15): Show |
A | 2 | a0001c0001t0001g0090 a0001c0001t0002g0017 |
2 | HG02258.hp2 HG03130.hp2 |
intron_variant | MODIFIER | c.442-5300_442-5279d others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871941 | |||||||
| chr12:102871943 | A | T | 9 | a0001c0001t0002g0150 a0001c0001t0004g0280 a0001c0001t0004g0281 others(6): Show |
9 | HG02258.hp1 HG02723.hp1 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-5280T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871943 | |||||||
| chr12:102871944 | AAAAAAAT others(8): Show |
A | 1 | a0001c0001t0001g0216 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.442-5296_442-5282d others(17): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871944 | |||||||
| chr12:102871945 | A | T | 10 | a0001c0001t0002g0150 a0001c0001t0002g0205 a0001c0001t0004g0280 others(7): Show |
10 | HG02258.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-5282T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871945 | |||||||
| chr12:102871945 | AAAAAATA others(7): Show |
A | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02723.hp2 HG02818.hp1 others(3): Show |
intron_variant | MODIFIER | c.442-5296_442-5283d others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871945 | |||||||
| chr12:102871947 | A | T | 10 | a0001c0001t0002g0150 a0001c0001t0002g0205 a0001c0001t0004g0280 others(7): Show |
10 | HG02258.hp1 HG02647.hp2 HG02723.hp1 others(7): Show |
intron_variant | MODIFIER | c.442-5284T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871947 | |||||||
| chr12:102871949 | A | AATATATA others(5): Show |
1 | a0001c0009t0005g0233 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.442-5298_442-5287d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871949 | |||||||
| chr12:102871949 | A | T | 12 | a0001c0001t0002g0150 a0001c0001t0002g0205 a0001c0001t0004g0280 others(9): Show |
12 | HG02258.hp1 HG02486.hp1 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.442-5286T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871949 | |||||||
| chr12:102871949 | AATAT | A | 9 | a0001c0003t0001g0112 a0001c0003t0003g0239 a0001c0003t0003g0252 others(6): Show |
9 | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(6): Show |
intron_variant | MODIFIER | c.442-5290_442-5287d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871949 | |||||||
| chr12:102871949 | AATATAT | A | 10 | a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0284 others(7): Show |
10 | HG00609.hp1 HG01516.hp2 NA18939.hp2 others(7): Show |
intron_variant | MODIFIER | c.442-5292_442-5287d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871949 | |||||||
| chr12:102871950 | ATATAT | A | 21 | a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 others(18): Show |
22 | HG00735.hp2 HG01168.hp2 HG01257.hp2 others(19): Show |
intron_variant | MODIFIER | c.442-5292_442-5288d others(7): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871950 | |||||||
| chr12:102871951 | T | A | 1 | a0001c0006t0001g0208 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.442-5288A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871951 | |||||||
| chr12:102871953 | T | A | 1 | a0001c0001t0011g0129 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.442-5290A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871953 | |||||||
| chr12:102871955 | T | A | 10 | a0001c0001t0002g0008 a0001c0001t0011g0129 a0001c0003t0001g0112 others(7): Show |
11 | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-5292A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871955 | |||||||
| chr12:102871957 | T | A | 11 | a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0011g0129 others(8): Show |
11 | HG00609.hp1 HG00673.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.442-5294A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102871957 | |||||||
| chr12:102872043 | T | C | 1 | a0001c0004t0007g0140 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.442-5380A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872043 | |||||||
| chr12:102872108 | C | T | 71 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(68): Show |
77 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.441+5354G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872108 | |||||||
| chr12:102872121 | G | A | 71 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(68): Show |
77 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(74): Show |
intron_variant | MODIFIER | c.441+5341C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872121 | |||||||
| chr12:102872248 | C | A | 1 | a0001c0001t0002g0183 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.441+5214G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872248 | |||||||
| chr12:102872401 | T | C | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.441+5061A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872401 | |||||||
| chr12:102872510 | G | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.441+4952C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872510 | |||||||
| chr12:102872528 | C | T | 1 | a0001c0003t0005g0255 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.441+4934G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872528 | |||||||
| chr12:102872602 | TG | T | 6 | a0001c0001t0001g0022 a0001c0001t0002g0017 a0001c0001t0002g0018 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.441+4859delC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872602 | |||||||
| chr12:102872872 | G | T | 1 | a0001c0001t0011g0129 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.441+4590C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102872872 | |||||||
| chr12:102873006 | T | C | 1 | a0001c0004t0008g0298 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.441+4456A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873006 | |||||||
| chr12:102873061 | C | T | 1 | a0001c0001t0001g0050 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.441+4401G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873061 | |||||||
| chr12:102873092 | C | A | 2 | a0001c0001t0002g0163 a0001c0001t0002g0166 |
2 | HG01168.hp1 HG01169.hp2 |
intron_variant | MODIFIER | c.441+4370G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873092 | |||||||
| chr12:102873225 | T | A | 10 | a0001c0001t0011g0129 a0001c0006t0001g0208 a0001c0006t0016g0158 others(7): Show |
10 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.441+4237A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873225 | |||||||
| chr12:102873419 | G | C | 90 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(87): Show |
96 | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(93): Show |
intron_variant | MODIFIER | c.441+4043C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873419 | |||||||
| chr12:102873579 | C | T | 11 | a0001c0004t0001g0100 a0001c0004t0001g0135 a0001c0004t0001g0136 others(8): Show |
11 | HG01109.hp1 HG01243.hp1 HG02630.hp2 others(8): Show |
intron_variant | MODIFIER | c.441+3883G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873579 | |||||||
| chr12:102873687 | A | G | 29 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(26): Show |
29 | HG00099.hp2 HG00558.hp1 HG00642.hp1 others(26): Show |
intron_variant | MODIFIER | c.441+3775T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873687 | |||||||
| chr12:102873706 | C | T | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.441+3756G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873706 | |||||||
| chr12:102873765 | A | G | 9 | a0001c0001t0011g0129 a0001c0006t0001g0208 a0001c0008t0018g0210 others(6): Show |
9 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.441+3697T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873765 | |||||||
| chr12:102873765 | A | T | 5 | a0001c0001t0001g0023 a0001c0001t0001g0124 a0001c0001t0001g0125 others(2): Show |
5 | HG01074.hp2 HG01099.hp2 HG01261.hp1 others(2): Show |
intron_variant | MODIFIER | c.441+3697T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873765 | |||||||
| chr12:102873834 | C | T | 1 | a0001c0001t0001g0134 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.441+3628G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873834 | |||||||
| chr12:102873931 | A | G | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.441+3531T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873931 | |||||||
| chr12:102873938 | C | T | 2 | a0001c0003t0005g0255 a0001c0014t0003g0256 |
2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.441+3524G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873938 | |||||||
| chr12:102873992 | G | A | 64 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(61): Show |
67 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.441+3470C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102873992 | |||||||
| chr12:102874216 | A | C | 1 | a0001c0002t0001g0176 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.441+3246T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874216 | |||||||
| chr12:102874225 | G | A | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.441+3237C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874225 | |||||||
| chr12:102874594 | A | C | 1 | a0001c0012t0002g0209 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.441+2868T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874594 | |||||||
| chr12:102874698 | G | A | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.441+2764C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874698 | |||||||
| chr12:102874908 | C | T | 63 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(60): Show |
66 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(63): Show |
intron_variant | MODIFIER | c.441+2554G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874908 | |||||||
| chr12:102874943 | C | T | 9 | a0001c0001t0011g0129 a0001c0006t0001g0208 a0001c0008t0018g0210 others(6): Show |
9 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.441+2519G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874943 | |||||||
| chr12:102874970 | C | T | 1 | a0001c0001t0001g0157 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.441+2492G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102874970 | |||||||
| chr12:102875049 | C | T | 1 | a0001c0001t0001g0028 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.441+2413G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875049 | |||||||
| chr12:102875371 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.441+2091C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875371 | |||||||
| chr12:102875375 | C | T | 1 | a0001c0001t0002g0196 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.441+2087G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875375 | |||||||
| chr12:102875380 | G | A | 1 | a0001c0003t0003g0240 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.441+2082C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875380 | |||||||
| chr12:102875434 | C | T | 1 | a0001c0002t0001g0119 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.441+2028G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875434 | |||||||
| chr12:102875565 | G | A | 2 | a0001c0001t0012g0141 a0001c0001t0012g0185 |
2 | HG02257.hp2 HG02615.hp2 |
intron_variant | MODIFIER | c.441+1897C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875565 | |||||||
| chr12:102875610 | G | A | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.441+1852C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875610 | |||||||
| chr12:102875621 | T | A | 16 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(13): Show |
16 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.441+1841A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875621 | |||||||
| chr12:102875630 | T | C | 15 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(12): Show |
15 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.441+1832A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875630 | |||||||
| chr12:102875638 | A | G | 64 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(61): Show |
67 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(64): Show |
intron_variant | MODIFIER | c.441+1824T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875638 | |||||||
| chr12:102875649 | G | A | 1 | a0001c0002t0001g0086 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.441+1813C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875649 | |||||||
| chr12:102875684 | G | A | 1 | a0001c0001t0001g0197 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.441+1778C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875684 | |||||||
| chr12:102875708 | A | G | 1 | a0001c0001t0009g0300 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.441+1754T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875708 | |||||||
| chr12:102875840 | C | T | 9 | a0001c0001t0011g0129 a0001c0006t0001g0208 a0001c0008t0018g0210 others(6): Show |
9 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(6): Show |
intron_variant | MODIFIER | c.441+1622G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875840 | |||||||
| chr12:102875855 | G | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.441+1607C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875855 | |||||||
| chr12:102875885 | CACAA | C | 16 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(13): Show |
16 | HG01496.hp1 HG02055.hp1 HG02109.hp1 others(13): Show |
intron_variant | MODIFIER | c.441+1573_441+1576d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875885 | |||||||
| chr12:102875926 | C | CAT | 71 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(68): Show |
72 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(69): Show |
intron_variant | MODIFIER | c.441+1534_441+1535d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875926 | |||||||
| chr12:102875954 | C | CAGAG | 229 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(226): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.441+1504_441+1507d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102875954 | |||||||
| chr12:102876040 | AT | A | 72 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(69): Show |
73 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(70): Show |
intron_variant | MODIFIER | c.441+1421delA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876040 | |||||||
| chr12:102876258 | A | G | 61 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(58): Show |
63 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(60): Show |
intron_variant | MODIFIER | c.441+1204T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876258 | |||||||
| chr12:102876395 | G | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.441+1067C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876395 | |||||||
| chr12:102876620 | G | A | 11 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(8): Show |
12 | HG00741.hp1 HG01081.hp1 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.441+842C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876620 | |||||||
| chr12:102876676 | G | A | 1 | a0001c0002t0001g0086 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.441+786C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876676 | |||||||
| chr12:102876679 | G | A | 76 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(73): Show |
79 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(76): Show |
intron_variant | MODIFIER | c.441+783C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876679 | |||||||
| chr12:102876743 | C | T | 71 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(68): Show |
74 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(71): Show |
intron_variant | MODIFIER | c.441+719G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102876743 | |||||||
| chr12:102877016 | G | A | 1 | a0001c0003t0003g0252 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.441+446C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102877016 | |||||||
| chr12:102877068 | G | A | 71 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(68): Show |
74 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(71): Show |
intron_variant | MODIFIER | c.441+394C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102877068 | |||||||
| chr12:102877248 | A | T | 5 | a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0006t0004g0287 others(2): Show |
5 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(2): Show |
intron_variant | MODIFIER | c.441+214T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102877248 | |||||||
| chr12:102877415 | G | A | 72 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(69): Show |
75 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(72): Show |
intron_variant | MODIFIER | c.441+47C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102877415 | |||||||
| chr12:102877436 | T | C | 15 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(12): Show |
15 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(12): Show |
intron_variant | MODIFIER | c.441+26A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102877436 | |||||||
| chr12:102877442 | C | T | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.441+20G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 4/12 | chr12 | 102877442 | |||||||
| chr12:102877572 | G | A | 72 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(69): Show |
78 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(75): Show |
intron_variant | MODIFIER | c.353-22C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877572 | |||||||
| chr12:102877639 | A | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.353-89T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877639 | |||||||
| chr12:102877688 | C | T | 12 | a0001c0001t0012g0141 a0001c0004t0001g0100 a0001c0004t0001g0135 others(9): Show |
12 | HG01109.hp1 HG01243.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.353-138G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877688 | |||||||
| chr12:102877694 | A | G | 1 | a0001c0003t0003g0260 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.353-144T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877694 | |||||||
| chr12:102877722 | C | T | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-172G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877722 | |||||||
| chr12:102877759 | T | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.353-209A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877759 | |||||||
| chr12:102877897 | C | T | 1 | a0001c0001t0011g0129 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.353-347G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877897 | |||||||
| chr12:102877969 | G | A | 64 | a0001c0001t0002g0152 a0001c0002t0001g0001 a0001c0002t0001g0004 others(61): Show |
70 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(67): Show |
intron_variant | MODIFIER | c.353-419C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877969 | |||||||
| chr12:102877982 | T | C | 7 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG01175.hp2 HG02145.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.353-432A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877982 | |||||||
| chr12:102877990 | C | T | 66 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 others(63): Show |
72 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.353-440G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102877990 | |||||||
| chr12:102878296 | T | A | 1 | a0001c0001t0002g0017 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.353-746A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878296 | |||||||
| chr12:102878302 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.353-752G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878302 | |||||||
| chr12:102878404 | T | G | 15 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(12): Show |
16 | HG00741.hp1 HG01081.hp1 HG01167.hp2 others(13): Show |
intron_variant | MODIFIER | c.353-854A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878404 | |||||||
| chr12:102878418 | C | T | 1 | a0001c0001t0001g0024 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.353-868G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878418 | |||||||
| chr12:102878544 | C | G | 66 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 others(63): Show |
72 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(69): Show |
intron_variant | MODIFIER | c.353-994G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878544 | |||||||
| chr12:102878604 | G | A | 2 | a0001c0001t0001g0117 a0001c0002t0001g0073 |
2 | NA19012.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.353-1054C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878604 | |||||||
| chr12:102878682 | CAAGAT | C | 5 | a0001c0001t0011g0129 a0001c0004t0008g0295 a0001c0004t0008g0296 others(2): Show |
5 | HG02055.hp1 HG02451.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.353-1137_353-1133d others(7): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878682 | |||||||
| chr12:102878866 | C | T | 1 | a0001c0002t0001g0092 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.353-1316G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878866 | |||||||
| chr12:102878908 | G | A | 248 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(245): Show |
258 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(255): Show |
intron_variant | MODIFIER | c.353-1358C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102878908 | |||||||
| chr12:102879011 | C | G | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-1461G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879011 | |||||||
| chr12:102879032 | G | T | 1 | a0001c0001t0002g0178 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.353-1482C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879032 | |||||||
| chr12:102879107 | G | A | 1 | a0001c0003t0001g0199 | 1 | NA18963.hp1 | intron_variant | MODIFIER | c.353-1557C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879107 | |||||||
| chr12:102879255 | T | C | 1 | a0001c0002t0001g0058 | 1 | NA18993.hp1 | intron_variant | MODIFIER | c.353-1705A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879255 | |||||||
| chr12:102879416 | C | G | 109 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(106): Show |
112 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(109): Show |
intron_variant | MODIFIER | c.353-1866G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879416 | |||||||
| chr12:102879532 | A | G | 61 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(58): Show |
63 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(60): Show |
intron_variant | MODIFIER | c.353-1982T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879532 | |||||||
| chr12:102879604 | G | T | 1 | a0001c0001t0001g0070 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.353-2054C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879604 | |||||||
| chr12:102879605 | T | TG | 55 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(52): Show |
55 | HG00099.hp2 HG00558.hp1 HG00558.hp2 others(52): Show |
intron_variant | MODIFIER | c.353-2056dupC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879605 | |||||||
| chr12:102879605 | TG | T | 76 | a0001c0001t0001g0050 a0001c0001t0001g0151 a0001c0001t0001g0157 others(73): Show |
82 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(79): Show |
intron_variant | MODIFIER | c.353-2056delC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879605 | |||||||
| chr12:102879607 | G | T | 3 | a0001c0001t0001g0022 a0001c0001t0007g0020 a0001c0001t0007g0021 |
3 | HG02922.hp1 HG02976.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.353-2057C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879607 | |||||||
| chr12:102879642 | C | T | 1 | a0001c0001t0001g0157 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.353-2092G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879642 | |||||||
| chr12:102879758 | G | A | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-2208C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879758 | |||||||
| chr12:102879972 | C | G | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-2422G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102879972 | |||||||
| chr12:102880040 | T | C | 5 | a0001c0001t0011g0129 a0001c0004t0008g0295 a0001c0004t0008g0296 others(2): Show |
5 | HG02055.hp1 HG02451.hp1 HG02486.hp2 others(2): Show |
intron_variant | MODIFIER | c.353-2490A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880040 | |||||||
| chr12:102880113 | T | G | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-2563A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880113 | |||||||
| chr12:102880149 | T | C | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-2599A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880149 | |||||||
| chr12:102880173 | G | A | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-2623C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880173 | |||||||
| chr12:102880182 | C | T | 15 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(12): Show |
16 | HG00741.hp1 HG01081.hp1 HG01167.hp2 others(13): Show |
intron_variant | MODIFIER | c.353-2632G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880182 | |||||||
| chr12:102880204 | C | T | 2 | a0001c0003t0001g0199 a0001c0006t0016g0158 |
2 | HG04228.hp1 NA18963.hp1 |
intron_variant | MODIFIER | c.353-2654G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880204 | |||||||
| chr12:102880220 | T | C | 1 | a0001c0001t0001g0030 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.353-2670A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880220 | |||||||
| chr12:102880241 | T | C | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-2691A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880241 | |||||||
| chr12:102880305 | G | C | 38 | a0001c0001t0001g0198 a0001c0001t0002g0012 a0001c0001t0002g0127 others(35): Show |
38 | HG00642.hp2 HG01109.hp1 HG01175.hp2 others(35): Show |
intron_variant | MODIFIER | c.353-2755C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880305 | |||||||
| chr12:102880448 | A | C | 3 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 |
3 | HG01884.hp1 HG02572.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.353-2898T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880448 | |||||||
| chr12:102880864 | C | G | 66 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(63): Show |
69 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(66): Show |
intron_variant | MODIFIER | c.353-3314G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880864 | |||||||
| chr12:102880891 | G | A | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-3341C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880891 | |||||||
| chr12:102880948 | T | G | 12 | a0001c0001t0012g0141 a0001c0004t0001g0100 a0001c0004t0001g0135 others(9): Show |
12 | HG01109.hp1 HG01243.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.353-3398A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880948 | |||||||
| chr12:102880968 | T | A | 249 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(246): Show |
259 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(256): Show |
intron_variant | MODIFIER | c.353-3418A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102880968 | |||||||
| chr12:102881008 | T | C | 58 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(55): Show |
59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.353-3458A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881008 | |||||||
| chr12:102881100 | G | A | 1 | a0001c0003t0003g0253 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.353-3550C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881100 | |||||||
| chr12:102881101 | C | A | 2 | a0001c0001t0009g0293 a0001c0001t0009g0294 |
2 | HG03041.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.353-3551G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881101 | |||||||
| chr12:102881107 | G | A | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-3557C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881107 | |||||||
| chr12:102881174 | C | T | 63 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(60): Show |
64 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(61): Show |
intron_variant | MODIFIER | c.353-3624G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881174 | |||||||
| chr12:102881233 | C | G | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-3683G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881233 | |||||||
| chr12:102881360 | T | C | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-3810A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881360 | |||||||
| chr12:102881361 | A | G | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-3811T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881361 | |||||||
| chr12:102881435 | T | C | 6 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(3): Show |
6 | HG02145.hp2 HG02622.hp1 HG02723.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-3885A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881435 | |||||||
| chr12:102881457 | C | T | 2 | a0001c0001t0001g0024 a0001c0002t0011g0034 |
2 | HG00738.hp1 HG01175.hp1 |
intron_variant | MODIFIER | c.353-3907G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881457 | |||||||
| chr12:102881458 | G | A | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-3908C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881458 | |||||||
| chr12:102881468 | T | A | 1 | a0001c0001t0002g0017 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.353-3918A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881468 | |||||||
| chr12:102881469 | G | C | 2 | a0001c0001t0002g0211 a0001c0012t0002g0209 |
2 | HG00323.hp2 HG01192.hp1 |
intron_variant | MODIFIER | c.353-3919C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881469 | |||||||
| chr12:102881680 | T | C | 2 | a0001c0003t0005g0255 a0001c0014t0003g0256 |
2 | HG02559.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.353-4130A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881680 | |||||||
| chr12:102881820 | G | A | 2 | a0001c0001t0009g0293 a0001c0001t0009g0294 |
2 | HG03041.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.353-4270C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102881820 | |||||||
| chr12:102882094 | T | C | 186 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(183): Show |
190 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(187): Show |
intron_variant | MODIFIER | c.353-4544A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882094 | |||||||
| chr12:102882104 | G | A | 81 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(78): Show |
84 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(81): Show |
intron_variant | MODIFIER | c.353-4554C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882104 | |||||||
| chr12:102882123 | C | T | 186 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(183): Show |
190 | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(187): Show |
intron_variant | MODIFIER | c.353-4573G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882123 | |||||||
| chr12:102882124 | C | A | 1 | a0001c0003t0003g0283 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.353-4574G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882124 | |||||||
| chr12:102882138 | A | G | 4 | a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 others(1): Show |
4 | NA18985.hp2 NA18999.hp2 NA19004.hp1 others(1): Show |
intron_variant | MODIFIER | c.353-4588T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882138 | |||||||
| chr12:102882147 | A | G | 5 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(2): Show |
5 | HG02258.hp1 HG02895.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.353-4597T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882147 | |||||||
| chr12:102882265 | G | A | 2 | a0001c0003t0001g0199 a0001c0006t0016g0158 |
2 | HG04228.hp1 NA18963.hp1 |
intron_variant | MODIFIER | c.353-4715C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882265 | |||||||
| chr12:102882437 | G | A | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-4887C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882437 | |||||||
| chr12:102882576 | GTA | G | 53 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(50): Show |
54 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(51): Show |
intron_variant | MODIFIER | c.353-5028_353-5027d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882576 | |||||||
| chr12:102882642 | C | CTA | 22 | a0001c0001t0001g0027 a0001c0001t0001g0070 a0001c0001t0001g0076 others(19): Show |
23 | HG00099.hp2 HG00558.hp1 HG01257.hp2 others(20): Show |
intron_variant | MODIFIER | c.353-5094_353-5093d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | C | CTATA | 21 | a0001c0001t0001g0026 a0001c0001t0001g0032 a0001c0001t0001g0056 others(18): Show |
21 | HG00558.hp2 HG00735.hp1 HG01074.hp2 others(18): Show |
intron_variant | MODIFIER | c.353-5096_353-5093d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | C | CTATATA | 10 | a0001c0001t0001g0048 a0001c0001t0001g0069 a0001c0001t0001g0154 others(7): Show |
10 | HG00642.hp1 HG01106.hp2 HG01358.hp2 others(7): Show |
intron_variant | MODIFIER | c.353-5098_353-5093d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | C | CTATATAT others(1): Show |
9 | a0001c0001t0001g0115 a0001c0003t0003g0254 a0002c0005t0003g0242 others(6): Show |
9 | HG00735.hp2 NA18939.hp2 NA18954.hp1 others(6): Show |
intron_variant | MODIFIER | c.353-5100_353-5093d others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | C | CTATATAT others(3): Show |
1 | a0001c0003t0003g0275 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.353-5102_353-5093d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | CTA | C | 5 | a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0267 others(2): Show |
5 | HG00099.hp1 HG00609.hp1 HG01192.hp2 others(2): Show |
intron_variant | MODIFIER | c.353-5094_353-5093d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | CTATA | C | 5 | a0001c0003t0003g0261 a0001c0003t0003g0274 a0001c0003t0003g0282 others(2): Show |
5 | HG00408.hp2 HG00673.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.353-5096_353-5093d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882642 | CTATATAT others(7): Show |
C | 1 | a0001c0003t0003g0286 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.353-5106_353-5093d others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882642 | |||||||
| chr12:102882659 | TATATATA others(11): Show |
T | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-5127_353-5110d others(20): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882659 | |||||||
| chr12:102882661 | TATATATA others(9): Show |
T | 75 | a0001c0001t0001g0094 a0001c0001t0012g0141 a0001c0002t0001g0001 others(72): Show |
79 | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(76): Show |
intron_variant | MODIFIER | c.353-5127_353-5112d others(18): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882661 | |||||||
| chr12:102882663 | TATATATA others(7): Show |
T | 55 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(52): Show |
56 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(53): Show |
intron_variant | MODIFIER | c.353-5127_353-5114d others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882663 | |||||||
| chr12:102882665 | TATATATA others(5): Show |
T | 6 | a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0004g0227 others(3): Show |
7 | HG00741.hp2 HG01167.hp1 HG01169.hp1 others(4): Show |
intron_variant | MODIFIER | c.353-5127_353-5116d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882665 | |||||||
| chr12:102882667 | TATATATA others(3): Show |
T | 12 | a0001c0001t0001g0151 a0001c0001t0001g0216 a0001c0001t0001g0217 others(9): Show |
12 | HG01884.hp1 HG02572.hp1 HG02622.hp1 others(9): Show |
intron_variant | MODIFIER | c.353-5127_353-5118d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882667 | |||||||
| chr12:102882669 | TATATATA others(1): Show |
T | 8 | a0001c0001t0002g0150 a0001c0001t0002g0163 a0001c0001t0002g0165 others(5): Show |
8 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(5): Show |
intron_variant | MODIFIER | c.353-5127_353-5120d others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882669 | |||||||
| chr12:102882671 | TATATAA | T | 12 | a0001c0001t0001g0051 a0001c0001t0002g0013 a0001c0001t0002g0018 others(9): Show |
12 | HG01167.hp2 HG02258.hp1 HG02451.hp1 others(9): Show |
intron_variant | MODIFIER | c.353-5127_353-5122d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882671 | |||||||
| chr12:102882673 | TATAA | T | 14 | a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0045 others(11): Show |
16 | HG00738.hp1 HG00741.hp1 HG01069.hp1 others(13): Show |
intron_variant | MODIFIER | c.353-5127_353-5124d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882673 | |||||||
| chr12:102882675 | TAA | T | 18 | a0001c0001t0001g0007 a0001c0001t0001g0030 a0001c0001t0001g0050 others(15): Show |
18 | HG01081.hp1 HG01099.hp2 HG01175.hp1 others(15): Show |
intron_variant | MODIFIER | c.353-5127_353-5126d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882675 | |||||||
| chr12:102882677 | A | T | 49 | a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0023 others(46): Show |
49 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(46): Show |
intron_variant | MODIFIER | c.353-5127T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882677 | |||||||
| chr12:102882775 | T | A | 80 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(77): Show |
83 | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(80): Show |
intron_variant | MODIFIER | c.353-5225A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882775 | |||||||
| chr12:102882834 | A | T | 7 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(4): Show |
7 | HG00642.hp2 HG01175.hp2 HG01884.hp2 others(4): Show |
intron_variant | MODIFIER | c.353-5284T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882834 | |||||||
| chr12:102882975 | G | A | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.353-5425C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102882975 | |||||||
| chr12:102883000 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.353-5450C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883000 | |||||||
| chr12:102883113 | G | A | 1 | a0001c0003t0003g0239 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.353-5563C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883113 | |||||||
| chr12:102883172 | G | A | 45 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(42): Show |
45 | HG00642.hp2 HG01109.hp1 HG01175.hp2 others(42): Show |
intron_variant | MODIFIER | c.353-5622C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883172 | |||||||
| chr12:102883387 | C | T | 61 | a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0005 others(58): Show |
67 | HG00408.hp1 HG00597.hp1 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.353-5837G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883387 | |||||||
| chr12:102883388 | G | C | 1 | a0001c0001t0001g0157 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.353-5838C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883388 | |||||||
| chr12:102883444 | C | T | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-5894G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883444 | |||||||
| chr12:102883464 | C | T | 47 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(44): Show |
47 | HG00642.hp2 HG01109.hp1 HG01175.hp2 others(44): Show |
intron_variant | MODIFIER | c.353-5914G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883464 | |||||||
| chr12:102883650 | G | A | 24 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(21): Show |
24 | HG01109.hp1 HG01243.hp1 HG01496.hp1 others(21): Show |
intron_variant | MODIFIER | c.353-6100C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102883650 | |||||||
| chr12:102884060 | G | A | 4 | a0001c0002t0001g0005 a0001c0002t0001g0077 a0001c0002t0001g0088 others(1): Show |
5 | HG01496.hp2 HG01928.hp2 HG02148.hp2 others(2): Show |
intron_variant | MODIFIER | c.353-6510C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884060 | |||||||
| chr12:102884061 | C | T | 5 | a0001c0002t0001g0005 a0001c0002t0001g0077 a0001c0002t0001g0088 others(2): Show |
6 | HG01496.hp2 HG01928.hp2 HG02148.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-6511G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884061 | |||||||
| chr12:102884233 | C | A | 58 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(55): Show |
59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.353-6683G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884233 | |||||||
| chr12:102884247 | C | T | 1 | a0001c0009t0005g0231 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.353-6697G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884247 | |||||||
| chr12:102884275 | G | C | 58 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(55): Show |
59 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(56): Show |
intron_variant | MODIFIER | c.353-6725C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884275 | |||||||
| chr12:102884498 | C | A | 1 | a0002c0005t0003g0242 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.353-6948G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884498 | |||||||
| chr12:102884536 | G | A | 61 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(58): Show |
62 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(59): Show |
intron_variant | MODIFIER | c.353-6986C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884536 | |||||||
| chr12:102884606 | A | G | 38 | a0001c0001t0001g0157 a0001c0001t0002g0012 a0001c0001t0002g0127 others(35): Show |
38 | HG00642.hp2 HG01109.hp1 HG01175.hp2 others(35): Show |
intron_variant | MODIFIER | c.353-7056T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884606 | |||||||
| chr12:102884733 | T | C | 3 | a0001c0001t0002g0205 a0001c0001t0004g0280 a0001c0001t0004g0281 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.353-7183A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884733 | |||||||
| chr12:102884831 | G | A | 1 | a0001c0002t0001g0092 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.353-7281C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884831 | |||||||
| chr12:102884856 | T | C | 6 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.353-7306A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884856 | |||||||
| chr12:102884967 | C | T | 86 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 others(83): Show |
89 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(86): Show |
intron_variant | MODIFIER | c.353-7417G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102884967 | |||||||
| chr12:102885033 | T | G | 4 | a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0089 others(1): Show |
4 | HG01257.hp1 HG01952.hp2 NA18747.hp2 others(1): Show |
intron_variant | MODIFIER | c.353-7483A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885033 | |||||||
| chr12:102885372 | A | C | 1 | a0001c0001t0001g0069 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.353-7822T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885372 | |||||||
| chr12:102885456 | G | A | 55 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(52): Show |
56 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
intron_variant | MODIFIER | c.353-7906C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885456 | |||||||
| chr12:102885475 | G | A | 2 | a0001c0003t0001g0199 a0001c0006t0016g0158 |
2 | HG04228.hp1 NA18963.hp1 |
intron_variant | MODIFIER | c.353-7925C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885475 | |||||||
| chr12:102885479 | G | A | 45 | a0001c0001t0002g0175 a0001c0001t0003g0266 a0001c0003t0001g0118 others(42): Show |
46 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(43): Show |
intron_variant | MODIFIER | c.353-7929C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885479 | |||||||
| chr12:102885616 | C | T | 1 | a0001c0004t0001g0135 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.353-8066G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885616 | |||||||
| chr12:102885864 | A | C | 1 | a0001c0002t0001g0153 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.353-8314T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885864 | |||||||
| chr12:102885930 | A | T | 80 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(77): Show |
81 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(78): Show |
intron_variant | MODIFIER | c.353-8380T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885930 | |||||||
| chr12:102885985 | T | C | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.353-8435A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102885985 | |||||||
| chr12:102886051 | T | G | 2 | a0001c0002t0001g0093 a0001c0002t0001g0149 |
2 | HG01993.hp1 HG02155.hp1 |
intron_variant | MODIFIER | c.353-8501A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886051 | |||||||
| chr12:102886148 | T | A | 6 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.352+8587A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886148 | |||||||
| chr12:102886204 | G | A | 22 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(19): Show |
22 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(19): Show |
intron_variant | MODIFIER | c.352+8531C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886204 | |||||||
| chr12:102886212 | T | G | 1 | a0001c0001t0002g0150 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.352+8523A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886212 | |||||||
| chr12:102886338 | G | T | 46 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(43): Show |
47 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(44): Show |
intron_variant | MODIFIER | c.352+8397C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886338 | |||||||
| chr12:102886500 | C | T | 1 | a0001c0007t0002g0044 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.352+8235G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886500 | |||||||
| chr12:102886757 | T | C | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.352+7978A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886757 | |||||||
| chr12:102886948 | C | T | 23 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(20): Show |
23 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.352+7787G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886948 | |||||||
| chr12:102886978 | G | C | 60 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(57): Show |
61 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(58): Show |
intron_variant | MODIFIER | c.352+7757C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102886978 | |||||||
| chr12:102887055 | A | G | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+7680T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887055 | |||||||
| chr12:102887101 | C | T | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+7634G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887101 | |||||||
| chr12:102887107 | G | A | 6 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.352+7628C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887107 | |||||||
| chr12:102887392 | C | T | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+7343G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887392 | |||||||
| chr12:102887526 | G | T | 2 | a0001c0001t0002g0168 a0001c0001t0002g0169 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.352+7209C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887526 | |||||||
| chr12:102887528 | C | A | 2 | a0001c0001t0002g0168 a0001c0001t0002g0169 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.352+7207G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887528 | |||||||
| chr12:102887533 | G | A | 2 | a0001c0002t0001g0055 a0001c0002t0001g0066 |
2 | NA19065.hp1 NA19090.hp2 |
intron_variant | MODIFIER | c.352+7202C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887533 | |||||||
| chr12:102887589 | G | A | 1 | a0001c0007t0002g0173 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.352+7146C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887589 | |||||||
| chr12:102887644 | A | G | 2 | a0001c0001t0004g0280 a0001c0001t0004g0281 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.352+7091T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887644 | |||||||
| chr12:102887724 | C | T | 1 | a0001c0001t0001g0087 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.352+7011G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887724 | |||||||
| chr12:102887758 | G | T | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+6977C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887758 | |||||||
| chr12:102887836 | T | C | 1 | a0001c0002t0001g0170 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.352+6899A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887836 | |||||||
| chr12:102887838 | G | T | 6 | a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0004t0008g0295 others(3): Show |
6 | HG02451.hp1 HG02486.hp2 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.352+6897C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887838 | |||||||
| chr12:102887861 | C | T | 1 | a0001c0001t0003g0228 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.352+6874G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887861 | |||||||
| chr12:102887900 | A | T | 1 | a0001c0001t0002g0128 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.352+6835T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887900 | |||||||
| chr12:102887935 | G | A | 1 | a0001c0012t0002g0209 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.352+6800C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102887935 | |||||||
| chr12:102888363 | A | C | 1 | a0001c0002t0003g0226 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.352+6372T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102888363 | |||||||
| chr12:102888369 | A | T | 2 | a0001c0003t0001g0199 a0001c0006t0016g0158 |
2 | HG04228.hp1 NA18963.hp1 |
intron_variant | MODIFIER | c.352+6366T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102888369 | |||||||
| chr12:102888427 | C | T | 1 | a0001c0002t0001g0088 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.352+6308G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102888427 | |||||||
| chr12:102888743 | G | A | 6 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(3): Show |
6 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
intron_variant | MODIFIER | c.352+5992C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102888743 | |||||||
| chr12:102888748 | G | A | 1 | a0001c0001t0002g0128 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.352+5987C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102888748 | |||||||
| chr12:102888853 | T | A | 1 | a0001c0001t0002g0150 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.352+5882A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102888853 | |||||||
| chr12:102889144 | T | C | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.352+5591A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889144 | |||||||
| chr12:102889153 | T | A | 84 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(81): Show |
85 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.352+5582A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889153 | |||||||
| chr12:102889164 | C | T | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+5571G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889164 | |||||||
| chr12:102889174 | T | C | 95 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(92): Show |
96 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(93): Show |
intron_variant | MODIFIER | c.352+5561A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889174 | |||||||
| chr12:102889205 | G | T | 7 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG02145.hp2 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.352+5530C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889205 | |||||||
| chr12:102889266 | T | A | 2 | a0001c0001t0012g0141 a0001c0004t0001g0138 |
2 | HG02257.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.352+5469A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889266 | |||||||
| chr12:102889286 | A | C | 4 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(1): Show |
4 | HG02257.hp1 HG02886.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+5449T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889286 | |||||||
| chr12:102889288 | C | G | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.352+5447G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889288 | |||||||
| chr12:102889402 | C | CATAG | 21 | a0001c0001t0001g0023 a0001c0001t0001g0048 a0001c0001t0001g0069 others(18): Show |
22 | HG00408.hp1 HG00558.hp2 HG01106.hp2 others(19): Show |
intron_variant | MODIFIER | c.352+5329_352+5332d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889402 | |||||||
| chr12:102889402 | CATAG | C | 124 | a0001c0001t0001g0007 a0001c0001t0001g0032 a0001c0001t0001g0050 others(121): Show |
125 | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.352+5329_352+5332d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889402 | |||||||
| chr12:102889402 | CATAGATA others(1): Show |
C | 21 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0051 others(18): Show |
22 | HG00639.hp2 HG00738.hp1 HG01069.hp2 others(19): Show |
intron_variant | MODIFIER | c.352+5325_352+5332d others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889402 | |||||||
| chr12:102889402 | CATAGATA others(5): Show |
C | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0017 others(10): Show |
14 | HG00741.hp1 HG01175.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.352+5321_352+5332d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889402 | |||||||
| chr12:102889470 | CAGAT | C | 15 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(12): Show |
15 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(12): Show |
intron_variant | MODIFIER | c.352+5261_352+5264d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889470 | |||||||
| chr12:102889490 | TGATA | T | 4 | a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 others(1): Show |
4 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+5241_352+5244d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889490 | |||||||
| chr12:102889533 | C | A | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.352+5202G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889533 | |||||||
| chr12:102889534 | G | GGACA | 15 | a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0198 others(12): Show |
15 | HG01109.hp1 HG01358.hp1 HG02109.hp1 others(12): Show |
intron_variant | MODIFIER | c.352+5200_352+5201i others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | G | GGACAGAT others(1): Show |
61 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(58): Show |
62 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.352+5200_352+5201i others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | G | GGACAGAT others(5): Show |
15 | a0001c0001t0002g0128 a0001c0001t0002g0160 a0001c0001t0002g0163 others(12): Show |
15 | HG01168.hp1 HG01169.hp2 HG01884.hp1 others(12): Show |
intron_variant | MODIFIER | c.352+5200_352+5201i others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | G | GGACAGAT others(9): Show |
3 | a0001c0001t0001g0203 a0001c0001t0002g0183 a0001c0004t0001g0135 |
3 | HG02698.hp2 HG04204.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.352+5200_352+5201i others(18): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | G | GGATA | 5 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0003t0001g0199 others(2): Show |
5 | HG00323.hp2 HG00642.hp2 HG01192.hp1 others(2): Show |
intron_variant | MODIFIER | c.352+5197_352+5200d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | G | GGATAGAT others(1): Show |
8 | a0001c0001t0009g0293 a0001c0001t0009g0294 a0001c0001t0009g0300 others(5): Show |
8 | HG00639.hp1 HG00741.hp2 HG01884.hp2 others(5): Show |
intron_variant | MODIFIER | c.352+5193_352+5200d others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | G | GGATAGAT others(5): Show |
1 | a0001c0009t0005g0231 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.352+5189_352+5200d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | GGATAGAT others(5): Show |
G | 42 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(39): Show |
43 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(40): Show |
intron_variant | MODIFIER | c.352+5189_352+5200d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889534 | GGATAGAT others(13): Show |
G | 2 | a0001c0003t0003g0261 a0001c0003t0003g0274 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.352+5181_352+5200d others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889534 | |||||||
| chr12:102889537 | T | C | 2 | a0001c0001t0004g0280 a0001c0001t0004g0281 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.352+5198A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889537 | |||||||
| chr12:102889549 | C | T | 111 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(108): Show |
112 | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(109): Show |
intron_variant | MODIFIER | c.352+5186G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889549 | |||||||
| chr12:102889553 | T | G | 2 | a0001c0001t0002g0205 a0001c0006t0002g0206 |
2 | HG02647.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.352+5182A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889553 | |||||||
| chr12:102889557 | T | C | 2 | a0001c0003t0003g0261 a0001c0003t0003g0274 |
2 | HG01516.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.352+5178A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889557 | |||||||
| chr12:102889721 | A | G | 14 | a0001c0001t0002g0009 a0001c0001t0002g0156 a0001c0001t0002g0175 others(11): Show |
15 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(12): Show |
intron_variant | MODIFIER | c.352+5014T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889721 | |||||||
| chr12:102889787 | C | T | 7 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG02145.hp2 HG02622.hp1 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.352+4948G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889787 | |||||||
| chr12:102889801 | C | T | 1 | a0001c0001t0001g0056 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.352+4934G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889801 | |||||||
| chr12:102889808 | C | T | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+4927G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102889808 | |||||||
| chr12:102890051 | G | A | 1 | a0001c0001t0001g0087 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.352+4684C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890051 | |||||||
| chr12:102890154 | A | G | 1 | a0001c0001t0001g0074 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.352+4581T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890154 | |||||||
| chr12:102890194 | A | G | 285 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(282): Show |
294 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
intron_variant | MODIFIER | c.352+4541T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890194 | |||||||
| chr12:102890214 | A | C | 1 | a0001c0003t0003g0269 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.352+4521T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890214 | |||||||
| chr12:102890253 | G | A | 4 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(1): Show |
4 | HG02257.hp1 HG02886.hp2 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+4482C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890253 | |||||||
| chr12:102890443 | G | A | 25 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(22): Show |
25 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.352+4292C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890443 | |||||||
| chr12:102890492 | G | A | 1 | a0001c0002t0001g0088 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.352+4243C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890492 | |||||||
| chr12:102890533 | G | A | 1 | a0001c0002t0001g0067 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.352+4202C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890533 | |||||||
| chr12:102890637 | C | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.352+4098G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890637 | |||||||
| chr12:102890675 | C | A | 1 | a0001c0001t0002g0017 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.352+4060G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890675 | |||||||
| chr12:102890686 | T | A | 1 | a0001c0001t0001g0202 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.352+4049A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890686 | |||||||
| chr12:102890733 | T | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.352+4002A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890733 | |||||||
| chr12:102890777 | C | G | 6 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.352+3958G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890777 | |||||||
| chr12:102890929 | A | G | 1 | a0001c0002t0001g0040 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.352+3806T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890929 | |||||||
| chr12:102890950 | T | G | 177 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(174): Show |
180 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(177): Show |
intron_variant | MODIFIER | c.352+3785A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102890950 | |||||||
| chr12:102891265 | A | T | 145 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(142): Show |
147 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(144): Show |
intron_variant | MODIFIER | c.352+3470T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891265 | |||||||
| chr12:102891297 | C | A | 1 | a0001c0002t0001g0149 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.352+3438G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891297 | |||||||
| chr12:102891328 | T | A | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+3407A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891328 | |||||||
| chr12:102891494 | C | T | 1 | a0001c0001t0001g0198 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.352+3241G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891494 | |||||||
| chr12:102891505 | T | G | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+3230A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891505 | |||||||
| chr12:102891526 | T | C | 1 | a0001c0012t0002g0209 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.352+3209A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891526 | |||||||
| chr12:102891570 | C | G | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+3165G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891570 | |||||||
| chr12:102891577 | G | A | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.352+3158C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891577 | |||||||
| chr12:102891730 | C | T | 5 | a0001c0001t0002g0211 a0001c0001t0009g0300 a0001c0001t0009g0301 others(2): Show |
5 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.352+3005G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891730 | |||||||
| chr12:102891875 | C | A | 5 | a0001c0001t0006g0221 a0001c0001t0006g0222 a0001c0001t0006g0224 others(2): Show |
5 | HG02630.hp1 HG02647.hp1 HG03225.hp2 others(2): Show |
intron_variant | MODIFIER | c.352+2860G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102891875 | |||||||
| chr12:102892034 | A | G | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.352+2701T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102892034 | |||||||
| chr12:102892384 | G | GA | 181 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(178): Show |
184 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(181): Show |
intron_variant | MODIFIER | c.352+2350dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102892384 | |||||||
| chr12:102892422 | T | C | 153 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(150): Show |
155 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(152): Show |
intron_variant | MODIFIER | c.352+2313A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102892422 | |||||||
| chr12:102892470 | C | T | 2 | a0001c0001t0002g0015 a0001c0001t0002g0016 |
2 | HG02055.hp2 HG02559.hp1 |
intron_variant | MODIFIER | c.352+2265G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102892470 | |||||||
| chr12:102892577 | A | G | 1 | a0001c0001t0002g0193 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.352+2158T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102892577 | |||||||
| chr12:102892883 | A | C | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+1852T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102892883 | |||||||
| chr12:102893027 | C | T | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.352+1708G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893027 | |||||||
| chr12:102893028 | T | A | 1 | a0001c0001t0004g0227 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.352+1707A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893028 | |||||||
| chr12:102893177 | T | A | 178 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(175): Show |
181 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(178): Show |
intron_variant | MODIFIER | c.352+1558A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893177 | |||||||
| chr12:102893289 | A | G | 61 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(58): Show |
62 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.352+1446T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893289 | |||||||
| chr12:102893355 | G | A | 2 | a0001c0001t0012g0141 a0001c0004t0001g0138 |
2 | HG02257.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.352+1380C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893355 | |||||||
| chr12:102893401 | A | AAAAAAT | 7 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(4): Show |
7 | HG02258.hp1 HG02572.hp2 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.352+1328_352+1333d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893401 | |||||||
| chr12:102893417 | A | G | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.352+1318T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893417 | |||||||
| chr12:102893420 | A | AAAAATT | 46 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(43): Show |
47 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(44): Show |
intron_variant | MODIFIER | c.352+1314_352+1315i others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893420 | |||||||
| chr12:102893427 | A | G | 1 | a0001c0002t0001g0073 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.352+1308T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893427 | |||||||
| chr12:102893502 | G | A | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.352+1233C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893502 | |||||||
| chr12:102893738 | T | A | 1 | a0001c0001t0001g0201 | 1 | NA19004.hp2 | intron_variant | MODIFIER | c.352+997A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893738 | |||||||
| chr12:102893773 | C | T | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.352+962G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102893773 | |||||||
| chr12:102894169 | C | T | 6 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(3): Show |
6 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
intron_variant | MODIFIER | c.352+566G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894169 | |||||||
| chr12:102894192 | T | G | 1 | a0001c0001t0001g0068 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.352+543A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894192 | |||||||
| chr12:102894397 | T | C | 1 | a0001c0002t0001g0096 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.352+338A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894397 | |||||||
| chr12:102894409 | A | C | 1 | a0001c0001t0002g0207 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.352+326T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894409 | |||||||
| chr12:102894429 | T | TA | 173 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0023 others(170): Show |
182 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
intron_variant | MODIFIER | c.352+305dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894429 | |||||||
| chr12:102894478 | T | C | 2 | a0001c0002t0001g0095 a0001c0002t0001g0096 |
2 | HG00673.hp2 NA19076.hp2 |
intron_variant | MODIFIER | c.352+257A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894478 | |||||||
| chr12:102894571 | A | T | 62 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(59): Show |
62 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(59): Show |
intron_variant | MODIFIER | c.352+164T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 3/12 | chr12 | 102894571 | |||||||
| chr12:102895076 | G | C | 1 | a0001c0010t0001g0002 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.169-158C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895076 | |||||||
| chr12:102895278 | C | A | 61 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(58): Show |
62 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.169-360G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895278 | |||||||
| chr12:102895573 | G | A | 25 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(22): Show |
25 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.169-655C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895573 | |||||||
| chr12:102895612 | C | T | 6 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(3): Show |
6 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-694G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895612 | |||||||
| chr12:102895635 | T | C | 25 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(22): Show |
25 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.169-717A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895635 | |||||||
| chr12:102895735 | A | G | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.169-817T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895735 | |||||||
| chr12:102895820 | A | G | 1 | a0001c0002t0001g0121 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.169-902T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895820 | |||||||
| chr12:102895833 | C | T | 59 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(56): Show |
60 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(57): Show |
intron_variant | MODIFIER | c.169-915G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895833 | |||||||
| chr12:102895854 | CA | C | 12 | a0001c0001t0001g0007 a0001c0001t0001g0057 a0001c0001t0001g0090 others(9): Show |
13 | HG01074.hp1 HG01255.hp2 HG01993.hp1 others(10): Show |
intron_variant | MODIFIER | c.169-937delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895854 | |||||||
| chr12:102895854 | CAA | C | 39 | a0001c0001t0001g0157 a0001c0001t0002g0150 a0001c0001t0003g0266 others(36): Show |
39 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(36): Show |
intron_variant | MODIFIER | c.169-938_169-937del others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895854 | |||||||
| chr12:102895865 | A | T | 4 | a0001c0001t0002g0165 a0001c0001t0002g0167 a0001c0001t0002g0188 others(1): Show |
4 | HG00639.hp2 HG01069.hp2 HG03017.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-947T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895865 | |||||||
| chr12:102895867 | A | T | 48 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0182 others(45): Show |
49 | HG00639.hp2 HG01069.hp2 HG01099.hp1 others(46): Show |
intron_variant | MODIFIER | c.169-949T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895867 | |||||||
| chr12:102895869 | A | AAAAAAAA others(15): Show |
1 | a0001c0001t0004g0281 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.169-952_169-951ins others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AAAAAAAA others(14): Show |
1 | a0001c0001t0004g0280 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.169-952_169-951ins others(21): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AAATAT | 8 | a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(5): Show |
8 | HG00639.hp1 HG01192.hp1 HG02055.hp2 others(5): Show |
intron_variant | MODIFIER | c.169-952_169-951ins others(5): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AAATATAT others(14): Show |
2 | a0001c0004t0008g0296 a0001c0004t0008g0298 |
2 | HG02451.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.169-952_169-951ins others(21): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AAATATAT others(18): Show |
1 | a0001c0004t0008g0295 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.169-952_169-951ins others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AAT | 12 | a0001c0001t0001g0076 a0001c0001t0001g0125 a0001c0001t0009g0293 others(9): Show |
12 | HG00099.hp2 HG01099.hp2 HG01884.hp2 others(9): Show |
intron_variant | MODIFIER | c.169-953_169-952dup others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AATATATA others(13): Show |
1 | a0001c0004t0008g0297 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.169-971_169-952dup others(20): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | AT | 4 | a0001c0001t0002g0008 a0001c0001t0002g0146 a0001c0001t0002g0147 others(1): Show |
5 | HG00741.hp1 HG01256.hp2 HG01258.hp1 others(2): Show |
intron_variant | MODIFIER | c.169-952_169-951ins others(1): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | A | T | 83 | a0001c0001t0001g0102 a0001c0001t0001g0151 a0001c0001t0001g0174 others(80): Show |
85 | HG00323.hp1 HG00639.hp2 HG00741.hp2 others(82): Show |
intron_variant | MODIFIER | c.169-951T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895869 | AAT | A | 12 | a0001c0001t0001g0070 a0001c0001t0002g0012 a0001c0001t0002g0127 others(9): Show |
12 | HG00735.hp2 HG01884.hp1 HG02055.hp1 others(9): Show |
intron_variant | MODIFIER | c.169-953_169-952del others(2): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895869 | |||||||
| chr12:102895870 | ATAT | A | 7 | a0001c0004t0007g0140 a0001c0008t0001g0131 a0001c0009t0005g0230 others(4): Show |
7 | HG02109.hp1 HG02257.hp1 HG02630.hp2 others(4): Show |
intron_variant | MODIFIER | c.169-955_169-953del others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895870 | |||||||
| chr12:102895871 | T | A | 4 | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0115 others(1): Show |
4 | HG02129.hp2 HG06807.hp1 NA18966.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-953A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895871 | |||||||
| chr12:102895936 | C | T | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.169-1018G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895936 | |||||||
| chr12:102895975 | G | A | 1 | a0001c0001t0001g0028 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.169-1057C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102895975 | |||||||
| chr12:102896144 | G | A | 1 | a0001c0001t0001g0024 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.169-1226C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896144 | |||||||
| chr12:102896219 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.169-1301G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896219 | |||||||
| chr12:102896531 | A | T | 92 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(89): Show |
93 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(90): Show |
intron_variant | MODIFIER | c.169-1613T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896531 | |||||||
| chr12:102896561 | G | A | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-1643C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896561 | |||||||
| chr12:102896904 | T | C | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.169-1986A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896904 | |||||||
| chr12:102896923 | C | T | 9 | a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0070 others(6): Show |
9 | HG02280.hp1 HG02615.hp1 HG02717.hp1 others(6): Show |
intron_variant | MODIFIER | c.169-2005G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896923 | |||||||
| chr12:102896977 | T | G | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.169-2059A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102896977 | |||||||
| chr12:102897129 | C | T | 5 | a0001c0001t0002g0211 a0001c0001t0009g0300 a0001c0001t0009g0301 others(2): Show |
5 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-2211G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897129 | |||||||
| chr12:102897291 | A | AG | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-2374_169-2373i others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897291 | |||||||
| chr12:102897292 | A | AT | 16 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(13): Show |
16 | HG01891.hp2 HG02145.hp2 HG02258.hp1 others(13): Show |
intron_variant | MODIFIER | c.169-2375dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897292 | |||||||
| chr12:102897292 | A | T | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-2374T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897292 | |||||||
| chr12:102897451 | ATG | A | 47 | a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0184 others(44): Show |
48 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-2535_169-2534d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897451 | |||||||
| chr12:102897461 | G | A | 5 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(2): Show |
5 | HG02109.hp1 HG02486.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-2543C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897461 | |||||||
| chr12:102897461 | GTGTGTAT others(3): Show |
G | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-2553_169-2544d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897461 | |||||||
| chr12:102897463 | G | A | 25 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(22): Show |
25 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.169-2545C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897463 | |||||||
| chr12:102897463 | GTGTA | G | 4 | a0001c0001t0001g0198 a0001c0001t0002g0163 a0001c0001t0002g0166 others(1): Show |
4 | HG01168.hp1 HG01169.hp2 HG02723.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-2549_169-2546d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897463 | |||||||
| chr12:102897465 | G | A | 42 | a0001c0001t0001g0157 a0001c0001t0001g0179 a0001c0001t0001g0181 others(39): Show |
42 | HG01109.hp1 HG01243.hp1 HG01358.hp1 others(39): Show |
intron_variant | MODIFIER | c.169-2547C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | G | GTA | 23 | a0001c0001t0001g0024 a0001c0001t0001g0051 a0001c0001t0001g0074 others(20): Show |
23 | HG00609.hp2 HG00738.hp1 HG01257.hp1 others(20): Show |
intron_variant | MODIFIER | c.169-2549_169-2548d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | G | GTATA | 4 | a0001c0002t0001g0004 a0001c0002t0001g0060 a0001c0002t0001g0063 others(1): Show |
4 | NA18939.hp1 NA18985.hp2 NA19004.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-2551_169-2548d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | G | GTATATAT others(13): Show |
1 | a0001c0010t0001g0002 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.169-2567_169-2548d others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | G | GTGTA | 6 | a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 others(3): Show |
6 | HG04228.hp1 NA18944.hp2 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-2548_169-2547i others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | GTA | G | 19 | a0001c0001t0001g0022 a0001c0001t0001g0068 a0001c0001t0001g0076 others(16): Show |
20 | HG00099.hp2 HG00741.hp1 HG01081.hp1 others(17): Show |
intron_variant | MODIFIER | c.169-2549_169-2548d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | GTATA | G | 4 | a0001c0001t0002g0211 a0001c0001t0009g0300 a0001c0001t0009g0301 others(1): Show |
4 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-2551_169-2548d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | GTATATA | G | 6 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(3): Show |
6 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-2553_169-2548d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897465 | GTATATAT others(3): Show |
G | 7 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.169-2557_169-2548d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897465 | |||||||
| chr12:102897467 | A | G | 1 | a0001c0001t0001g0094 | 1 | HG03942.hp2 | intron_variant | MODIFIER | c.169-2549T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897467 | |||||||
| chr12:102897492 | T | A | 54 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(51): Show |
55 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(52): Show |
intron_variant | MODIFIER | c.169-2574A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATACATA others(5): Show |
5 | a0001c0001t0002g0127 a0001c0001t0011g0129 a0001c0008t0001g0131 others(2): Show |
5 | HG02055.hp1 HG02572.hp1 HG02886.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-2575_169-2574i others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATACA others(7): Show |
3 | a0001c0001t0002g0012 a0001c0001t0002g0128 a0001c0008t0001g0130 |
3 | HG01884.hp1 HG02886.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.169-2575_169-2574i others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(9): Show |
1 | a0001c0009t0005g0233 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.169-2575_169-2574i others(18): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(3): Show |
1 | a0001c0004t0001g0144 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.169-2575_169-2574i others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(11): Show |
2 | a0001c0009t0013g0235 a0004c0013t0005g0232 |
2 | HG02109.hp1 HG02257.hp1 |
intron_variant | MODIFIER | c.169-2575_169-2574i others(20): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(5): Show |
2 | a0001c0004t0007g0140 a0001c0015t0002g0143 |
2 | HG02630.hp2 HG02818.hp2 |
intron_variant | MODIFIER | c.169-2575_169-2574i others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(13): Show |
1 | a0001c0009t0013g0234 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.169-2575_169-2574i others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(7): Show |
9 | a0001c0001t0004g0280 a0001c0001t0004g0289 a0001c0004t0001g0136 others(6): Show |
9 | HG01109.hp1 HG01243.hp1 HG02486.hp2 others(6): Show |
intron_variant | MODIFIER | c.169-2575_169-2574i others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(15): Show |
1 | a0001c0001t0002g0150 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.169-2575_169-2574i others(24): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(9): Show |
6 | a0001c0001t0004g0281 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02897.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-2575_169-2574i others(18): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(11): Show |
4 | a0001c0001t0012g0141 a0001c0004t0001g0100 a0001c0004t0001g0139 others(1): Show |
4 | HG02257.hp2 HG02451.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-2575_169-2574i others(20): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897492 | T | TATATATA others(13): Show |
2 | a0001c0001t0004g0227 a0001c0006t0004g0292 |
2 | HG02717.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.169-2575_169-2574i others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897492 | |||||||
| chr12:102897578 | C | T | 4 | a0001c0001t0002g0211 a0001c0001t0009g0300 a0001c0001t0009g0301 others(1): Show |
4 | HG00323.hp2 HG00639.hp1 HG00741.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-2660G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897578 | |||||||
| chr12:102897632 | A | C | 67 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(64): Show |
68 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.169-2714T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897632 | |||||||
| chr12:102897696 | G | C | 1 | a0001c0001t0002g0017 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.169-2778C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897696 | |||||||
| chr12:102897711 | C | T | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.169-2793G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897711 | |||||||
| chr12:102897831 | A | G | 1 | a0001c0001t0002g0195 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.169-2913T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102897831 | |||||||
| chr12:102898029 | T | C | 61 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(58): Show |
62 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.169-3111A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898029 | |||||||
| chr12:102898105 | C | T | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-3187G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898105 | |||||||
| chr12:102898245 | G | GT | 165 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(162): Show |
167 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(164): Show |
intron_variant | MODIFIER | c.169-3328_169-3327i others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898245 | |||||||
| chr12:102898514 | T | A | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.169-3596A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898514 | |||||||
| chr12:102898521 | A | G | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-3603T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898521 | |||||||
| chr12:102898593 | C | T | 102 | a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 others(99): Show |
108 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(105): Show |
intron_variant | MODIFIER | c.169-3675G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898593 | |||||||
| chr12:102898617 | T | G | 1 | a0001c0002t0001g0089 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.169-3699A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898617 | |||||||
| chr12:102898760 | T | C | 2 | a0001c0008t0023g0237 a0001c0008t0024g0236 |
2 | HG01884.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.169-3842A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898760 | |||||||
| chr12:102898994 | A | C | 104 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0213 others(101): Show |
104 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(101): Show |
intron_variant | MODIFIER | c.169-4076T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102898994 | |||||||
| chr12:102899052 | C | T | 1 | a0001c0001t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.169-4134G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899052 | |||||||
| chr12:102899351 | C | A | 1 | a0001c0001t0001g0217 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.169-4433G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899351 | |||||||
| chr12:102899445 | C | T | 59 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(56): Show |
60 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(57): Show |
intron_variant | MODIFIER | c.169-4527G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899445 | |||||||
| chr12:102899519 | A | C | 3 | a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0154 |
3 | HG00642.hp1 HG01106.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.169-4601T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899519 | |||||||
| chr12:102899582 | G | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-4664C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899582 | |||||||
| chr12:102899679 | G | A | 1 | a0001c0006t0004g0292 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.169-4761C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899679 | |||||||
| chr12:102899729 | G | A | 2 | a0001c0001t0004g0280 a0001c0001t0004g0281 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.169-4811C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899729 | |||||||
| chr12:102899775 | C | T | 1 | a0001c0001t0002g0150 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.169-4857G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899775 | |||||||
| chr12:102899858 | C | CA | 64 | a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0027 others(61): Show |
67 | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(64): Show |
intron_variant | MODIFIER | c.169-4941dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAA | 46 | a0001c0001t0001g0090 a0001c0001t0003g0266 a0001c0001t0012g0185 others(43): Show |
49 | HG00099.hp1 HG00609.hp1 HG00738.hp2 others(46): Show |
intron_variant | MODIFIER | c.169-4942_169-4941d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAA | 30 | a0001c0001t0001g0094 a0001c0001t0002g0172 a0001c0002t0001g0043 others(27): Show |
30 | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(27): Show |
intron_variant | MODIFIER | c.169-4943_169-4941d others(5): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(1): Show |
10 | a0001c0001t0002g0169 a0001c0001t0002g0175 a0001c0001t0002g0178 others(7): Show |
10 | HG01099.hp1 HG01346.hp1 HG01943.hp1 others(7): Show |
intron_variant | MODIFIER | c.169-4948_169-4941d others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(2): Show |
13 | a0001c0001t0002g0009 a0001c0001t0002g0017 a0001c0001t0002g0156 others(10): Show |
14 | HG01261.hp2 HG02004.hp2 HG02109.hp1 others(11): Show |
intron_variant | MODIFIER | c.169-4949_169-4941d others(11): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(3): Show |
5 | a0001c0001t0002g0146 a0001c0001t0004g0257 a0001c0004t0001g0142 others(2): Show |
5 | HG00323.hp1 HG01243.hp1 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.169-4950_169-4941d others(12): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(4): Show |
7 | a0001c0001t0001g0194 a0001c0001t0002g0008 a0001c0001t0002g0013 others(4): Show |
8 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(5): Show |
intron_variant | MODIFIER | c.169-4951_169-4941d others(13): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(5): Show |
2 | a0001c0001t0002g0164 a0001c0001t0007g0019 |
2 | HG01433.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.169-4952_169-4941d others(14): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(6): Show |
4 | a0001c0001t0001g0022 a0001c0001t0001g0216 a0001c0001t0001g0217 others(1): Show |
4 | HG02622.hp1 HG02922.hp1 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.169-4953_169-4941d others(15): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(7): Show |
4 | a0001c0001t0002g0150 a0001c0001t0006g0221 a0001c0001t0007g0021 others(1): Show |
4 | HG02630.hp1 HG02922.hp2 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-4954_169-4941d others(16): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(8): Show |
3 | a0001c0001t0002g0014 a0001c0001t0002g0161 a0001c0001t0006g0222 |
3 | HG01993.hp2 HG02647.hp1 HG02970.hp1 |
intron_variant | MODIFIER | c.169-4955_169-4941d others(17): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(9): Show |
2 | a0001c0001t0002g0162 a0001c0001t0002g0205 |
2 | HG01952.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.169-4956_169-4941d others(18): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(10): Show |
5 | a0001c0001t0001g0151 a0001c0001t0002g0015 a0001c0001t0004g0227 others(2): Show |
5 | HG02559.hp1 HG02717.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.169-4957_169-4941d others(19): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(11): Show |
2 | a0001c0001t0001g0157 a0001c0001t0006g0225 |
2 | HG02622.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.169-4958_169-4941d others(20): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(13): Show |
1 | a0001c0001t0002g0016 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.169-4960_169-4941d others(22): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(16): Show |
1 | a0001c0001t0002g0165 | 1 | HG01069.hp2 | intron_variant | MODIFIER | c.169-4963_169-4941d others(25): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(17): Show |
6 | a0001c0001t0001g0181 a0001c0001t0001g0197 a0001c0001t0002g0159 others(3): Show |
6 | HG00639.hp2 HG01358.hp1 HG01981.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-4964_169-4941d others(26): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(18): Show |
3 | a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0003t0001g0199 |
3 | HG04204.hp1 NA18963.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.169-4965_169-4941d others(27): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(22): Show |
2 | a0001c0001t0001g0179 a0001c0002t0001g0204 |
2 | NA18942.hp1 NA18948.hp2 |
intron_variant | MODIFIER | c.169-4969_169-4941d others(31): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(23): Show |
2 | a0001c0001t0002g0200 a0001c0001t0002g0220 |
2 | HG01106.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.169-4941_169-4940i others(32): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(24): Show |
2 | a0001c0001t0001g0174 a0001c0001t0001g0182 |
2 | NA18992.hp1 NA19012.hp1 |
intron_variant | MODIFIER | c.169-4941_169-4940i others(33): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(25): Show |
2 | a0001c0001t0001g0201 a0001c0002t0001g0180 |
2 | NA18957.hp1 NA19004.hp2 |
intron_variant | MODIFIER | c.169-4941_169-4940i others(34): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(26): Show |
1 | a0001c0002t0001g0170 | 1 | NA18999.hp1 | intron_variant | MODIFIER | c.169-4941_169-4940i others(35): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | C | CAAAAAAA others(29): Show |
1 | a0001c0001t0001g0202 | 1 | NA19007.hp2 | intron_variant | MODIFIER | c.169-4941_169-4940i others(38): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | CA | C | 6 | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0009g0293 others(3): Show |
6 | HG01175.hp2 HG01891.hp1 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-4941delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899858 | CAA | C | 6 | a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0002g0211 others(3): Show |
6 | HG00642.hp2 HG00741.hp2 HG01192.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-4942_169-4941d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899858 | |||||||
| chr12:102899886 | A | AAAAAAAA others(24): Show |
1 | a0001c0001t0002g0219 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.169-4969_169-4968i others(33): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899886 | |||||||
| chr12:102899921 | A | G | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.169-5003T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899921 | |||||||
| chr12:102899959 | G | A | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-5041C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102899959 | |||||||
| chr12:102900009 | T | C | 86 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(83): Show |
87 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(84): Show |
intron_variant | MODIFIER | c.169-5091A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900009 | |||||||
| chr12:102900049 | C | CT | 21 | a0001c0001t0001g0045 a0001c0001t0001g0181 a0001c0001t0001g0182 others(18): Show |
22 | HG01167.hp1 HG01169.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.169-5132dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900049 | |||||||
| chr12:102900049 | CT | C | 73 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(70): Show |
75 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(72): Show |
intron_variant | MODIFIER | c.169-5132delA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900049 | |||||||
| chr12:102900139 | T | C | 47 | a0001c0001t0003g0266 a0001c0003t0001g0118 a0001c0003t0003g0010 others(44): Show |
48 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(45): Show |
intron_variant | MODIFIER | c.169-5221A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900139 | |||||||
| chr12:102900200 | T | C | 128 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(125): Show |
130 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(127): Show |
intron_variant | MODIFIER | c.169-5282A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900200 | |||||||
| chr12:102900317 | G | A | 12 | a0001c0001t0012g0141 a0001c0004t0001g0100 a0001c0004t0001g0135 others(9): Show |
12 | HG01109.hp1 HG01243.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.169-5399C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900317 | |||||||
| chr12:102900318 | G | T | 25 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(22): Show |
25 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.169-5400C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900318 | |||||||
| chr12:102900329 | G | C | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.169-5411C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900329 | |||||||
| chr12:102900421 | T | G | 63 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(60): Show |
64 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.169-5503A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900421 | |||||||
| chr12:102900477 | G | A | 67 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(64): Show |
68 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.169-5559C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900477 | |||||||
| chr12:102900482 | G | A | 67 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(64): Show |
68 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.169-5564C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900482 | |||||||
| chr12:102900520 | T | G | 61 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(58): Show |
62 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.169-5602A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102900520 | |||||||
| chr12:102901018 | C | G | 1 | a0001c0001t0002g0207 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.169-6100G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901018 | |||||||
| chr12:102901100 | A | G | 3 | a0001c0007t0010g0035 a0001c0007t0010g0036 a0001c0007t0010g0037 |
3 | HG02280.hp2 HG02895.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.169-6182T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901100 | |||||||
| chr12:102901200 | G | A | 283 | a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0026 others(280): Show |
292 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(289): Show |
intron_variant | MODIFIER | c.169-6282C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901200 | |||||||
| chr12:102901233 | C | T | 177 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(174): Show |
180 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(177): Show |
intron_variant | MODIFIER | c.169-6315G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901233 | |||||||
| chr12:102901255 | T | C | 1 | a0001c0002t0001g0098 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.169-6337A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901255 | |||||||
| chr12:102901276 | G | A | 67 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(64): Show |
68 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(65): Show |
intron_variant | MODIFIER | c.169-6358C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901276 | |||||||
| chr12:102901620 | C | T | 25 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(22): Show |
25 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(22): Show |
intron_variant | MODIFIER | c.169-6702G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901620 | |||||||
| chr12:102901673 | G | A | 1 | a0001c0004t0001g0144 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.169-6755C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901673 | |||||||
| chr12:102901674 | G | A | 61 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(58): Show |
62 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(59): Show |
intron_variant | MODIFIER | c.169-6756C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901674 | |||||||
| chr12:102901704 | A | G | 86 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(83): Show |
87 | HG00323.hp1 HG00639.hp2 HG01069.hp2 others(84): Show |
intron_variant | MODIFIER | c.169-6786T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901704 | |||||||
| chr12:102901738 | G | C | 1 | a0001c0002t0001g0099 | 1 | NA18957.hp2 | intron_variant | MODIFIER | c.169-6820C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901738 | |||||||
| chr12:102901858 | G | A | 63 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(60): Show |
64 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.169-6940C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901858 | |||||||
| chr12:102901903 | C | G | 41 | a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0181 others(38): Show |
42 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(39): Show |
intron_variant | MODIFIER | c.169-6985G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901903 | |||||||
| chr12:102901905 | G | GA | 7 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.169-6988dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102901905 | |||||||
| chr12:102902101 | A | C | 1 | a0001c0001t0002g0146 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.169-7183T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902101 | |||||||
| chr12:102902189 | T | C | 1 | a0001c0001t0001g0203 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.169-7271A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902189 | |||||||
| chr12:102902230 | G | T | 148 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(145): Show |
150 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(147): Show |
intron_variant | MODIFIER | c.169-7312C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902230 | |||||||
| chr12:102902259 | C | T | 1 | a0001c0007t0002g0044 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.169-7341G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902259 | |||||||
| chr12:102902264 | G | C | 1 | a0001c0006t0001g0208 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.169-7346C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902264 | |||||||
| chr12:102902429 | C | A | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.169-7511G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902429 | |||||||
| chr12:102902535 | G | T | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.169-7617C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902535 | |||||||
| chr12:102902608 | T | C | 5 | a0001c0001t0001g0032 a0001c0001t0001g0102 a0001c0001t0002g0101 others(2): Show |
5 | HG02615.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
intron_variant | MODIFIER | c.169-7690A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902608 | |||||||
| chr12:102902668 | A | G | 6 | a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 others(3): Show |
6 | HG00597.hp1 NA18944.hp2 NA18963.hp2 others(3): Show |
intron_variant | MODIFIER | c.169-7750T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902668 | |||||||
| chr12:102902688 | A | G | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.169-7770T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902688 | |||||||
| chr12:102902860 | T | G | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.169-7942A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902860 | |||||||
| chr12:102902927 | T | A | 37 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(34): Show |
37 | HG00639.hp2 HG01069.hp2 HG01109.hp1 others(34): Show |
intron_variant | MODIFIER | c.169-8009A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102902927 | |||||||
| chr12:102903066 | A | G | 1 | a0001c0001t0002g0211 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.169-8148T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903066 | |||||||
| chr12:102903158 | C | T | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.169-8240G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903158 | |||||||
| chr12:102903189 | C | T | 4 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 others(1): Show |
4 | HG01928.hp1 HG01952.hp1 HG01978.hp1 others(1): Show |
intron_variant | MODIFIER | c.169-8271G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903189 | |||||||
| chr12:102903315 | C | T | 1 | a0001c0008t0018g0210 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.169-8397G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903315 | |||||||
| chr12:102903352 | T | G | 1 | a0001c0001t0001g0022 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.169-8434A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903352 | |||||||
| chr12:102903360 | C | CA | 83 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(80): Show |
84 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(81): Show |
intron_variant | MODIFIER | c.169-8443dupT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903360 | |||||||
| chr12:102903360 | C | CAA | 31 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(28): Show |
32 | HG00323.hp2 HG00642.hp2 HG00741.hp1 others(29): Show |
intron_variant | MODIFIER | c.169-8444_169-8443d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903360 | |||||||
| chr12:102903360 | C | CAAA | 6 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(3): Show |
6 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-8445_169-8443d others(5): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903360 | |||||||
| chr12:102903371 | A | AC | 42 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(39): Show |
43 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(40): Show |
intron_variant | MODIFIER | c.169-8454_169-8453i others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903371 | |||||||
| chr12:102903373 | C | A | 1 | a0001c0003t0001g0104 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.169-8455G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903373 | |||||||
| chr12:102903385 | C | A | 1 | a0001c0002t0001g0105 | 1 | HG01257.hp1 | intron_variant | MODIFIER | c.169-8467G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903385 | |||||||
| chr12:102903385 | C | CACAA | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG00639.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.169-8468_169-8467i others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903385 | |||||||
| chr12:102903387 | A | C | 43 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(40): Show |
44 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.169-8469T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903387 | |||||||
| chr12:102903388 | A | AAC | 122 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0012 others(119): Show |
124 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(121): Show |
intron_variant | MODIFIER | c.169-8471_169-8470i others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903388 | |||||||
| chr12:102903388 | A | C | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG00639.hp1 HG01891.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.169-8470T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903388 | |||||||
| chr12:102903400 | A | C | 12 | a0001c0001t0001g0157 a0001c0001t0002g0211 a0001c0001t0003g0228 others(9): Show |
12 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(9): Show |
intron_variant | MODIFIER | c.169-8482T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903400 | |||||||
| chr12:102903411 | TTATG | T | 173 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(170): Show |
176 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.169-8497_169-8494d others(6): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903411 | |||||||
| chr12:102903420 | G | A | 6 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(3): Show |
6 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.169-8502C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903420 | |||||||
| chr12:102903563 | G | C | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.169-8645C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903563 | |||||||
| chr12:102903788 | C | T | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.169-8870G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903788 | |||||||
| chr12:102903797 | T | C | 1 | a0001c0002t0001g0106 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.169-8879A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903797 | |||||||
| chr12:102903805 | G | A | 2 | a0001c0001t0004g0280 a0001c0001t0004g0281 |
2 | HG02896.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.169-8887C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903805 | |||||||
| chr12:102903902 | C | T | 19 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(16): Show |
19 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.168+8889G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903902 | |||||||
| chr12:102903968 | A | G | 180 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(177): Show |
183 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(180): Show |
intron_variant | MODIFIER | c.168+8823T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102903968 | |||||||
| chr12:102904045 | T | C | 2 | a0001c0008t0001g0130 a0001c0008t0001g0131 |
2 | HG02886.hp1 HG03041.hp1 |
intron_variant | MODIFIER | c.168+8746A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904045 | |||||||
| chr12:102904140 | C | G | 1 | a0001c0002t0011g0034 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.168+8651G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904140 | |||||||
| chr12:102904269 | A | G | 1 | a0001c0002t0001g0033 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.168+8522T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904269 | |||||||
| chr12:102904279 | C | A | 5 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(2): Show |
5 | HG01884.hp1 HG02055.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.168+8512G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904279 | |||||||
| chr12:102904297 | C | A | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.168+8494G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904297 | |||||||
| chr12:102904504 | T | C | 1 | a0001c0002t0001g0114 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.168+8287A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904504 | |||||||
| chr12:102904593 | T | A | 19 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(16): Show |
19 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.168+8198A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904593 | |||||||
| chr12:102904636 | A | G | 2 | a0001c0003t0003g0282 a0001c0003t0003g0283 |
2 | HG00408.hp2 HG00673.hp1 |
intron_variant | MODIFIER | c.168+8155T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904636 | |||||||
| chr12:102904739 | A | G | 170 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(167): Show |
173 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(170): Show |
intron_variant | MODIFIER | c.168+8052T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904739 | |||||||
| chr12:102904809 | G | A | 3 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 |
3 | HG00140.hp2 HG01515.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.168+7982C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904809 | |||||||
| chr12:102904834 | C | G | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.168+7957G>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904834 | |||||||
| chr12:102904837 | T | C | 1 | a0001c0007t0002g0173 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.168+7954A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102904837 | |||||||
| chr12:102905026 | C | T | 43 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(40): Show |
44 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.168+7765G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905026 | |||||||
| chr12:102905065 | G | A | 43 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(40): Show |
44 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.168+7726C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905065 | |||||||
| chr12:102905147 | C | T | 43 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(40): Show |
44 | HG00323.hp1 HG01099.hp1 HG01106.hp1 others(41): Show |
intron_variant | MODIFIER | c.168+7644G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905147 | |||||||
| chr12:102905161 | T | C | 11 | a0001c0001t0002g0211 a0001c0001t0003g0228 a0001c0001t0009g0293 others(8): Show |
11 | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(8): Show |
intron_variant | MODIFIER | c.168+7630A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905161 | |||||||
| chr12:102905553 | G | GT | 4 | a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 others(1): Show |
4 | HG01167.hp2 HG02055.hp2 HG02559.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+7237dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905553 | |||||||
| chr12:102905557 | T | C | 18 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(15): Show |
18 | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(15): Show |
intron_variant | MODIFIER | c.168+7234A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905557 | |||||||
| chr12:102905825 | TA | T | 25 | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0179 others(22): Show |
25 | HG01099.hp1 HG01109.hp1 HG01167.hp2 others(22): Show |
intron_variant | MODIFIER | c.168+6965delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905825 | |||||||
| chr12:102905851 | T | C | 173 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(170): Show |
176 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(173): Show |
intron_variant | MODIFIER | c.168+6940A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102905851 | |||||||
| chr12:102906004 | T | C | 57 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(54): Show |
58 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(55): Show |
intron_variant | MODIFIER | c.168+6787A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102906004 | |||||||
| chr12:102906023 | G | A | 11 | a0001c0001t0012g0141 a0001c0004t0001g0135 a0001c0004t0001g0136 others(8): Show |
11 | HG01109.hp1 HG01243.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.168+6768C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102906023 | |||||||
| chr12:102906160 | A | C | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.168+6631T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102906160 | |||||||
| chr12:102906544 | T | C | 8 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(5): Show |
8 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
intron_variant | MODIFIER | c.168+6247A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102906544 | |||||||
| chr12:102906629 | C | T | 12 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(9): Show |
12 | HG02109.hp1 HG02257.hp1 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.168+6162G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102906629 | |||||||
| chr12:102906706 | G | A | 1 | a0001c0002t0001g0110 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.168+6085C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102906706 | |||||||
| chr12:102907170 | G | T | 2 | a0001c0006t0004g0287 a0001c0006t0004g0288 |
2 | HG02895.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.168+5621C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102907170 | |||||||
| chr12:102907184 | T | C | 57 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(54): Show |
58 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(55): Show |
intron_variant | MODIFIER | c.168+5607A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102907184 | |||||||
| chr12:102907364 | C | T | 1 | a0001c0002t0001g0116 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.168+5427G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102907364 | |||||||
| chr12:102907398 | A | C | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.168+5393T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102907398 | |||||||
| chr12:102907582 | G | T | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.168+5209C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102907582 | |||||||
| chr12:102907733 | C | T | 49 | a0001c0001t0003g0266 a0001c0001t0004g0280 a0001c0001t0004g0281 others(46): Show |
50 | HG00099.hp1 HG00408.hp2 HG00597.hp2 others(47): Show |
intron_variant | MODIFIER | c.168+5058G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102907733 | |||||||
| chr12:102908022 | GA | G | 19 | a0001c0001t0012g0141 a0001c0004t0001g0135 a0001c0004t0001g0136 others(16): Show |
19 | HG01109.hp1 HG01243.hp1 HG02109.hp1 others(16): Show |
intron_variant | MODIFIER | c.168+4768delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908022 | |||||||
| chr12:102908050 | A | T | 1 | a0001c0002t0001g0111 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.168+4741T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908050 | |||||||
| chr12:102908133 | A | G | 1 | a0001c0009t0013g0234 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.168+4658T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908133 | |||||||
| chr12:102908190 | C | T | 19 | a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 others(16): Show |
19 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(16): Show |
intron_variant | MODIFIER | c.168+4601G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908190 | |||||||
| chr12:102908205 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.168+4586G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908205 | |||||||
| chr12:102908220 | C | T | 9 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(6): Show |
9 | HG00639.hp1 HG00642.hp2 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.168+4571G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908220 | |||||||
| chr12:102908221 | G | GAC | 25 | a0001c0001t0001g0022 a0001c0001t0002g0013 a0001c0001t0002g0014 others(22): Show |
25 | HG00741.hp1 HG01167.hp2 HG01515.hp1 others(22): Show |
intron_variant | MODIFIER | c.168+4568_168+4569d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908221 | |||||||
| chr12:102908221 | G | GACACAC | 5 | a0001c0009t0005g0230 a0001c0009t0005g0233 a0001c0009t0013g0234 others(2): Show |
5 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(2): Show |
intron_variant | MODIFIER | c.168+4564_168+4569d others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908221 | |||||||
| chr12:102908221 | GAC | G | 82 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(79): Show |
83 | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(80): Show |
intron_variant | MODIFIER | c.168+4568_168+4569d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908221 | |||||||
| chr12:102908353 | A | G | 1 | a0001c0001t0001g0157 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.168+4438T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908353 | |||||||
| chr12:102908516 | C | T | 47 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(44): Show |
48 | HG00323.hp1 HG00323.hp2 HG00558.hp2 others(45): Show |
intron_variant | MODIFIER | c.168+4275G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908516 | |||||||
| chr12:102908655 | TTATGAAC others(1): Show |
T | 175 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(172): Show |
178 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(175): Show |
intron_variant | MODIFIER | c.168+4128_168+4135d others(10): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908655 | |||||||
| chr12:102908837 | C | CT | 45 | a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 others(42): Show |
46 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(43): Show |
intron_variant | MODIFIER | c.168+3953dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908837 | |||||||
| chr12:102908837 | C | CTT | 18 | a0001c0001t0001g0174 a0001c0001t0002g0159 a0001c0001t0002g0160 others(15): Show |
18 | HG01069.hp2 HG01169.hp2 HG01346.hp1 others(15): Show |
intron_variant | MODIFIER | c.168+3952_168+3953d others(4): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908837 | |||||||
| chr12:102908837 | CT | C | 16 | a0001c0001t0001g0151 a0001c0001t0001g0214 a0001c0001t0001g0215 others(13): Show |
16 | HG00408.hp2 HG00609.hp1 HG00673.hp1 others(13): Show |
intron_variant | MODIFIER | c.168+3953delA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908837 | |||||||
| chr12:102908866 | A | G | 50 | a0001c0001t0003g0266 a0001c0001t0004g0257 a0001c0001t0004g0280 others(47): Show |
51 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(48): Show |
intron_variant | MODIFIER | c.168+3925T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102908866 | |||||||
| chr12:102909018 | G | A | 2 | a0001c0002t0001g0113 a0001c0002t0001g0114 |
2 | NA18954.hp2 NA19005.hp2 |
intron_variant | MODIFIER | c.168+3773C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909018 | |||||||
| chr12:102909081 | G | A | 1 | a0001c0001t0002g0211 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.168+3710C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909081 | |||||||
| chr12:102909084 | T | C | 50 | a0001c0001t0003g0266 a0001c0001t0004g0257 a0001c0001t0004g0280 others(47): Show |
51 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(48): Show |
intron_variant | MODIFIER | c.168+3707A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909084 | |||||||
| chr12:102909118 | G | A | 46 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(43): Show |
47 | HG00323.hp2 HG00558.hp2 HG01099.hp1 others(44): Show |
intron_variant | MODIFIER | c.168+3673C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909118 | |||||||
| chr12:102909171 | G | A | 46 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(43): Show |
47 | HG00323.hp2 HG00558.hp2 HG01099.hp1 others(44): Show |
intron_variant | MODIFIER | c.168+3620C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909171 | |||||||
| chr12:102909396 | A | T | 1 | a0001c0001t0001g0125 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.168+3395T>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909396 | |||||||
| chr12:102909526 | C | T | 6 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(3): Show |
6 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(3): Show |
intron_variant | MODIFIER | c.168+3265G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909526 | |||||||
| chr12:102909629 | T | C | 100 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(97): Show |
102 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(99): Show |
intron_variant | MODIFIER | c.168+3162A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909629 | |||||||
| chr12:102909681 | C | T | 4 | a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 others(1): Show |
4 | HG00558.hp1 NA18966.hp2 NA18993.hp2 others(1): Show |
intron_variant | MODIFIER | c.168+3110G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909681 | |||||||
| chr12:102909711 | C | T | 3 | a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0007t0002g0173 |
3 | HG02451.hp2 HG03098.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.168+3080G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909711 | |||||||
| chr12:102909713 | C | A | 6 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.168+3078G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909713 | |||||||
| chr12:102909716 | T | C | 22 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(19): Show |
23 | HG00639.hp1 HG00642.hp2 HG00741.hp1 others(20): Show |
intron_variant | MODIFIER | c.168+3075A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909716 | |||||||
| chr12:102909770 | G | A | 2 | a0001c0001t0002g0205 a0001c0006t0002g0206 |
2 | HG02647.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.168+3021C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909770 | |||||||
| chr12:102909873 | C | T | 1 | a0001c0001t0001g0124 | 1 | HG01074.hp2 | intron_variant | MODIFIER | c.168+2918G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909873 | |||||||
| chr12:102909891 | G | A | 1 | a0001c0003t0003g0286 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.168+2900C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909891 | |||||||
| chr12:102909923 | C | T | 20 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(17): Show |
20 | HG01891.hp2 HG02109.hp1 HG02145.hp2 others(17): Show |
intron_variant | MODIFIER | c.168+2868G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102909923 | |||||||
| chr12:102910365 | G | A | 53 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(50): Show |
54 | HG00323.hp2 HG00558.hp2 HG01099.hp1 others(51): Show |
intron_variant | MODIFIER | c.168+2426C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910365 | |||||||
| chr12:102910372 | C | CT | 12 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(9): Show |
12 | HG00735.hp1 HG00735.hp2 HG01175.hp2 others(9): Show |
intron_variant | MODIFIER | c.168+2418dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910372 | |||||||
| chr12:102910386 | T | G | 7 | a0001c0001t0001g0022 a0001c0001t0001g0218 a0001c0001t0002g0207 others(4): Show |
7 | HG00323.hp2 HG01192.hp1 HG01496.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+2405A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910386 | |||||||
| chr12:102910387 | T | G | 68 | a0001c0001t0001g0022 a0001c0001t0001g0115 a0001c0001t0001g0117 others(65): Show |
70 | HG00323.hp2 HG00558.hp2 HG00741.hp1 others(67): Show |
intron_variant | MODIFIER | c.168+2404A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910387 | |||||||
| chr12:102910387 | TG | T | 18 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 others(15): Show |
18 | HG00639.hp2 HG01069.hp2 HG01168.hp1 others(15): Show |
intron_variant | MODIFIER | c.168+2403delC | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910387 | |||||||
| chr12:102910388 | G | T | 91 | a0001c0001t0002g0012 a0001c0001t0002g0127 a0001c0001t0002g0128 others(88): Show |
92 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(89): Show |
intron_variant | MODIFIER | c.168+2403C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910388 | |||||||
| chr12:102910393 | G | T | 157 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(154): Show |
159 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(156): Show |
intron_variant | MODIFIER | c.168+2398C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910393 | |||||||
| chr12:102910499 | T | C | 1 | a0001c0001t0002g0212 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.168+2292A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910499 | |||||||
| chr12:102910643 | T | TCAACTC | 6 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(3): Show |
6 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.168+2147_168+2148i others(8): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910643 | |||||||
| chr12:102910811 | T | TCAACGTG others(8): Show |
13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.168+1979_168+1980i others(17): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102910811 | |||||||
| chr12:102911137 | C | A | 6 | a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 others(3): Show |
6 | HG00408.hp1 HG02129.hp1 HG02132.hp1 others(3): Show |
intron_variant | MODIFIER | c.168+1654G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102911137 | |||||||
| chr12:102911267 | T | C | 4 | a0001c0001t0001g0023 a0001c0001t0001g0124 a0001c0001t0001g0125 others(1): Show |
4 | HG01074.hp2 HG01099.hp2 HG01261.hp1 others(1): Show |
intron_variant | MODIFIER | c.168+1524A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102911267 | |||||||
| chr12:102911312 | G | A | 6 | a0001c0009t0005g0230 a0001c0009t0005g0231 a0001c0009t0005g0233 others(3): Show |
6 | HG02109.hp1 HG02257.hp1 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.168+1479C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102911312 | |||||||
| chr12:102911443 | C | A | 138 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(135): Show |
140 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.168+1348G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102911443 | |||||||
| chr12:102911631 | G | A | 156 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(153): Show |
158 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(155): Show |
intron_variant | MODIFIER | c.168+1160C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102911631 | |||||||
| chr12:102911718 | A | C | 1 | a0001c0002t0001g0025 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.168+1073T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102911718 | |||||||
| chr12:102912061 | T | G | 7 | a0001c0001t0001g0151 a0001c0001t0001g0213 a0001c0001t0001g0214 others(4): Show |
7 | HG01891.hp2 HG02145.hp2 HG02622.hp1 others(4): Show |
intron_variant | MODIFIER | c.168+730A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102912061 | |||||||
| chr12:102912269 | C | T | 1 | a0001c0006t0016g0158 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.168+522G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102912269 | |||||||
| chr12:102912281 | T | C | 54 | a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0004g0257 others(51): Show |
55 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.168+510A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102912281 | |||||||
| chr12:102912524 | T | A | 3 | a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0004t0026g0299 |
3 | HG00639.hp1 HG00741.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.168+267A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102912524 | |||||||
| chr12:102912772 | A | G | 72 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(69): Show |
73 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(70): Show |
intron_variant | MODIFIER | c.168+19T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 2/12 | chr12 | 102912772 | |||||||
| chr12:102913046 | T | C | 1 | a0001c0001t0004g0227 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.61-148A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913046 | |||||||
| chr12:102913158 | C | T | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.61-260G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913158 | |||||||
| chr12:102913243 | A | G | 85 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(82): Show |
86 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(83): Show |
intron_variant | MODIFIER | c.61-345T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913243 | |||||||
| chr12:102913333 | T | C | 1 | a0001c0001t0025g0229 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.61-435A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913333 | |||||||
| chr12:102913408 | C | T | 1 | a0001c0001t0001g0157 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.61-510G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913408 | |||||||
| chr12:102913545 | A | C | 1 | a0001c0001t0001g0024 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.61-647T>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913545 | |||||||
| chr12:102913583 | G | A | 179 | a0001c0001t0001g0022 a0001c0001t0001g0151 a0001c0001t0001g0157 others(176): Show |
182 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(179): Show |
intron_variant | MODIFIER | c.61-685C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913583 | |||||||
| chr12:102913623 | A | G | 1 | a0001c0004t0026g0299 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.61-725T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913623 | |||||||
| chr12:102913720 | A | G | 1 | a0001c0010t0001g0002 | 2 | HG01167.hp1 HG01169.hp1 |
intron_variant | MODIFIER | c.61-822T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913720 | |||||||
| chr12:102913805 | A | G | 50 | a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0004g0257 others(47): Show |
51 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(48): Show |
intron_variant | MODIFIER | c.61-907T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913805 | |||||||
| chr12:102913918 | C | T | 1 | a0001c0001t0025g0229 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.61-1020G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102913918 | |||||||
| chr12:102914057 | A | G | 72 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(69): Show |
73 | HG00323.hp2 HG00558.hp2 HG00639.hp2 others(70): Show |
intron_variant | MODIFIER | c.61-1159T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914057 | |||||||
| chr12:102914260 | TA | T | 3 | a0001c0003t0003g0238 a0001c0003t0003g0239 a0001c0003t0003g0240 |
3 | HG00597.hp2 HG02040.hp1 HG02523.hp1 |
intron_variant | MODIFIER | c.61-1363delT | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914260 | |||||||
| chr12:102914271 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.61-1373T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914271 | |||||||
| chr12:102914384 | T | C | 1 | a0001c0004t0002g0145 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.61-1486A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914384 | |||||||
| chr12:102914474 | T | A | 54 | a0001c0001t0003g0250 a0001c0001t0003g0266 a0001c0001t0004g0257 others(51): Show |
55 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(52): Show |
intron_variant | MODIFIER | c.61-1576A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914474 | |||||||
| chr12:102914604 | GTCT | G | 3 | a0001c0001t0001g0007 a0001c0001t0001g0132 a0001c0001t0001g0133 |
4 | HG01074.hp1 HG01255.hp2 HG02004.hp1 others(1): Show |
intron_variant | MODIFIER | c.61-1709_61-1707del others(3): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914604 | |||||||
| chr12:102914676 | C | T | 1 | a0001c0001t0001g0023 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.61-1778G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914676 | |||||||
| chr12:102914865 | C | T | 1 | a0001c0001t0003g0228 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.61-1967G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914865 | |||||||
| chr12:102914868 | A | G | 145 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(142): Show |
147 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(144): Show |
intron_variant | MODIFIER | c.61-1970T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102914868 | |||||||
| chr12:102915236 | C | T | 12 | a0001c0001t0003g0228 a0001c0001t0009g0293 a0001c0001t0009g0294 others(9): Show |
12 | HG00642.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.60+1835G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915236 | |||||||
| chr12:102915312 | T | C | 6 | a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0291 others(3): Show |
6 | HG02258.hp1 HG02895.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.60+1759A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915312 | |||||||
| chr12:102915420 | G | C | 1 | a0001c0001t0001g0134 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.60+1651C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915420 | |||||||
| chr12:102915420 | G | T | 13 | a0001c0001t0001g0022 a0001c0001t0002g0008 a0001c0001t0002g0013 others(10): Show |
14 | HG00741.hp1 HG01167.hp2 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.60+1651C>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915420 | |||||||
| chr12:102915545 | T | A | 11 | a0001c0001t0012g0141 a0001c0004t0001g0135 a0001c0004t0001g0136 others(8): Show |
11 | HG01109.hp1 HG01243.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.60+1526A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915545 | |||||||
| chr12:102915618 | G | A | 145 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(142): Show |
147 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(144): Show |
intron_variant | MODIFIER | c.60+1453C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915618 | |||||||
| chr12:102915820 | A | AT | 137 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(134): Show |
139 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(136): Show |
intron_variant | MODIFIER | c.60+1250dupA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915820 | |||||||
| chr12:102915849 | G | A | 4 | a0001c0004t0008g0295 a0001c0004t0008g0296 a0001c0004t0008g0297 others(1): Show |
4 | HG02451.hp1 HG02486.hp2 HG03130.hp1 others(1): Show |
intron_variant | MODIFIER | c.60+1222C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915849 | |||||||
| chr12:102915954 | C | T | 66 | a0001c0001t0003g0228 a0001c0001t0003g0250 a0001c0001t0003g0266 others(63): Show |
67 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(64): Show |
intron_variant | MODIFIER | c.60+1117G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102915954 | |||||||
| chr12:102916012 | C | T | 6 | a0001c0001t0009g0293 a0001c0001t0009g0294 a0001c0004t0008g0295 others(3): Show |
6 | HG02451.hp1 HG02486.hp2 HG03041.hp2 others(3): Show |
intron_variant | MODIFIER | c.60+1059G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916012 | |||||||
| chr12:102916144 | AT | A | 10 | a0001c0001t0002g0008 a0001c0001t0002g0146 a0001c0001t0002g0147 others(7): Show |
11 | HG00741.hp1 HG01256.hp2 HG01258.hp1 others(8): Show |
intron_variant | MODIFIER | c.60+926delA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916144 | |||||||
| chr12:102916144 | ATT | A | 138 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(135): Show |
140 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.60+925_60+926delAA | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916144 | |||||||
| chr12:102916167 | T | A | 139 | a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0174 others(136): Show |
141 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(138): Show |
intron_variant | MODIFIER | c.60+904A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916167 | |||||||
| chr12:102916276 | C | A | 1 | a0001c0001t0002g0152 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.60+795G>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916276 | |||||||
| chr12:102916395 | G | C | 66 | a0001c0001t0003g0228 a0001c0001t0003g0250 a0001c0001t0003g0266 others(63): Show |
67 | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(64): Show |
intron_variant | MODIFIER | c.60+676C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916395 | |||||||
| chr12:102916442 | G | A | 1 | a0001c0002t0001g0153 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.60+629C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916442 | |||||||
| chr12:102916560 | T | G | 1 | a0001c0001t0001g0154 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.60+511A>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916560 | |||||||
| chr12:102916663 | G | A | 1 | a0001c0002t0001g0155 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.60+408C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916663 | |||||||
| chr12:102916739 | A | G | 1 | a0001c0001t0002g0012 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.60+332T>C | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916739 | |||||||
| chr12:102916753 | T | A | 138 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(135): Show |
140 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.60+318A>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916753 | |||||||
| chr12:102916772 | G | C | 3 | a0001c0001t0009g0300 a0001c0001t0009g0301 a0001c0004t0026g0299 |
3 | HG00639.hp1 HG00741.hp2 HG01175.hp2 |
intron_variant | MODIFIER | c.60+299C>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916772 | |||||||
| chr12:102916873 | C | T | 1 | a0001c0002t0003g0226 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.60+198G>A | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916873 | |||||||
| chr12:102916895 | T | TAGAAACA others(315): Show |
1 | a0001c0001t0006g0221 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.60+175_60+176insTT others(320): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916895 | |||||||
| chr12:102916895 | T | TAGAAACA others(316): Show |
2 | a0001c0001t0006g0222 a0001c0008t0001g0223 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.60+175_60+176insTT others(321): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916895 | |||||||
| chr12:102916895 | T | TAGAAACA others(319): Show |
2 | a0001c0001t0006g0224 a0001c0001t0006g0225 |
2 | HG03471.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.60+175_60+176insTT others(324): Show |
PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916895 | |||||||
| chr12:102916937 | T | C | 138 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(135): Show |
140 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(137): Show |
intron_variant | MODIFIER | c.60+134A>G | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102916937 | |||||||
| chr12:102917009 | G | A | 147 | a0001c0001t0001g0157 a0001c0001t0001g0174 a0001c0001t0001g0179 others(144): Show |
149 | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(146): Show |
intron_variant | MODIFIER | c.60+62C>T | PAH | ENSG00000171759.10 | transcript | ENST00000553106.6 | protein_coding | 1/12 | chr12 | 102917009 |