Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 2643 |
| ensemblid | ENSG00000131979.20 |
| hgncid | 4193 |
| symbol | GCH1 |
| name | GTP cyclohydrolase 1 |
| refseq_nuc | NM_000161.3 |
| refseq_prot | NP_000152.1 |
| ensembl_nuc | ENST00000491895.7 |
| ensembl_prot | ENSP00000419045.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 54842017 |
| end | 54902826 |
| strand | - |
| ver | v1.2 |
| region | chr14:54842017-54902826 |
| region5000 | chr14:54837017-54907826 |
| regionname0 | GCH1_chr14_54842017_54902826 |
| regionname5000 | GCH1_chr14_54837017_54907826 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 250 | 344 | 87 | 66 | 136 | 14 | 39 | 98 | GCH1_chr14_54837017_54907826 | GCH1 | MEKGP others(245): Show |
chr14 | 54837017 | 54907826 |
| a0002 | 0/0 | 250 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | MEKGP others(245): Show |
chr14 | 54837017 | 54907826 |
| a0003 | 0/0 | 250 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | MEKGP others(245): Show |
chr14 | 54837017 | 54907826 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 750 | 342 | 85 | 66 | 136 | 14 | 39 | GCH1_chr14_54837017_54907826 | GCH1 | ATGGA others(745): Show |
chr14 | 54837017 | 54907826 | ||
| a0001c0002 | 0/0 | 750 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | ATGGA others(745): Show |
chr14 | 54837017 | 54907826 | ||
| a0001c0003 | 0/0 | 750 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | ATGGA others(745): Show |
chr14 | 54837017 | 54907826 | ||
| a0002c0004 | 0/0 | 750 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | ATGGA others(745): Show |
chr14 | 54837017 | 54907826 | ||
| a0003c0005 | 0/0 | 750 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | ATGGA others(745): Show |
chr14 | 54837017 | 54907826 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 2916 | 163 | 24 | 31 | 72 | 10 | 25 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0002 | 0/0 | 2916 | 90 | 13 | 23 | 49 | 1 | 4 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0003 | 0/0 | 2916 | 13 | 9 | 0 | 2 | 0 | 2 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0004 | 0/0 | 2913 | 12 | 4 | 1 | 6 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2908): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0005 | 0/0 | 2915 | 12 | 10 | 2 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2910): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0006 | 0/0 | 2916 | 7 | 0 | 5 | 0 | 2 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0007 | 0/0 | 2918 | 6 | 0 | 0 | 0 | 1 | 5 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2913): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0008 | 0/0 | 2916 | 6 | 4 | 0 | 1 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0009 | 1/0 | 2916 | 4 | 3 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0010 | 0/0 | 2916 | 3 | 3 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0011 | 0/0 | 2916 | 3 | 3 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0012 | 0/0 | 2913 | 3 | 3 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2908): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0013 | 0/0 | 2913 | 2 | 1 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2908): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0014 | 0/0 | 2916 | 2 | 0 | 0 | 2 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0015 | 0/0 | 2915 | 2 | 2 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2910): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0016 | 0/0 | 2916 | 2 | 0 | 0 | 2 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0017 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0018 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0019 | 0/0 | 2916 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0020 | 0/0 | 2916 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0021 | 0/0 | 2913 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2908): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0022 | 0/0 | 2913 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2908): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0023 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0024 | 0/0 | 2916 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0025 | 0/0 | 2916 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0026 | 0/0 | 2916 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0027 | 0/0 | 2913 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2908): Show |
chr14 | 54837017 | 54907826 |
| a0001c0001t0028 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0002t0002 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0001c0003t0001 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0002c0004t0001 | 0/0 | 2916 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| a0003c0005t0001 | 0/0 | 2916 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | AGCCT others(2911): Show |
chr14 | 54837017 | 54907826 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 5 | 1 | 2 | 0 | 1 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0122 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0126 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0130 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0135 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0137 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0173 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0176 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0177 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0211 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0234 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0286 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0290 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0291 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0292 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0293 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0294 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0296 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0001g0298 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0022 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0036 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0037 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0048 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0077 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0079 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0080 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0098 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0100 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0175 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0181 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0213 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0267 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0271 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0002g0299 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0305 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0306 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0312 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0315 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0003g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0028 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0029 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0031 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0004g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0326 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0327 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0328 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0329 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0330 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0332 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0333 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0335 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0336 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0005g0337 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0260 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0261 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0263 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0006g0265 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0007g0275 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0007g0276 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0007g0277 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0007g0278 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0007g0279 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0007g0280 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0008g0210 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0008g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0008g0287 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0008g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0008g0289 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0008g0300 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0009g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0009g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0009g0320 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0009g0321 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0010g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0010g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0010g0270 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0011g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0011g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0011g0283 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0012g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0012g0323 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0012g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0013g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0013g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0014g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0014g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0015g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0015g0075 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0016g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0016g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0017g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0018g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0019g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0020g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0021g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0022g0030 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0023g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0024g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0025g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0026g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0027g0338 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0001t0028g0334 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0002t0002g0301 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0001c0003t0001g0302 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0002c0004t0001g0303 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| a0003c0005t0001g0304 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0001 | g0138 | EUR | GBR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0166 | EUR | GBR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0167 | EUR | GBR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00140 | hp2 | a0001 | c0001 | t0006 | g0260 | EUR | GBR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00323 | hp1 | a0001 | c0001 | t0002 | g0098 | EUR | FIN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00323 | hp2 | a0001 | c0001 | t0007 | g0275 | EUR | FIN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00408 | hp1 | a0001 | c0001 | t0001 | g0118 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0185 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00423 | hp1 | a0001 | c0001 | t0014 | g0184 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00423 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00438 | hp1 | a0001 | c0001 | t0002 | g0051 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0116 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00558 | hp1 | a0001 | c0001 | t0004 | g0172 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0150 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0129 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00597 | hp2 | a0001 | c0001 | t0002 | g0045 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00609 | hp2 | a0001 | c0001 | t0002 | g0060 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00621 | hp1 | a0001 | c0001 | t0002 | g0242 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00621 | hp2 | a0001 | c0001 | t0001 | g0218 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00639 | hp1 | a0001 | c0001 | t0006 | g0259 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00639 | hp2 | a0001 | c0001 | t0004 | g0031 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0296 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0163 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00673 | hp2 | a0001 | c0001 | t0001 | g0180 | EAS | CHS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00735 | hp1 | a0001 | c0001 | t0002 | g0145 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0187 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0292 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0142 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00741 | hp1 | a0001 | c0001 | t0006 | g0265 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG00741 | hp2 | a0001 | c0001 | t0002 | g0077 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01069 | hp1 | a0001 | c0001 | t0002 | g0078 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01069 | hp2 | a0001 | c0001 | t0006 | g0262 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01070 | hp1 | a0001 | c0001 | t0002 | g0037 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0108 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01071 | hp1 | a0001 | c0001 | t0006 | g0263 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01071 | hp2 | a0001 | c0001 | t0002 | g0036 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01074 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0136 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01081 | hp1 | a0001 | c0001 | t0005 | g0330 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0081 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01099 | hp1 | a0001 | c0001 | t0002 | g0091 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01099 | hp2 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0164 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01106 | hp2 | a0001 | c0001 | t0002 | g0082 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01109 | hp1 | a0001 | c0001 | t0002 | g0065 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01109 | hp2 | a0001 | c0001 | t0001 | g0162 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01168 | hp1 | a0001 | c0001 | t0002 | g0267 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0193 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01169 | hp1 | a0001 | c0001 | t0002 | g0080 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0213 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0106 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01175 | hp2 | a0001 | c0001 | t0002 | g0084 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0192 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01192 | hp2 | a0001 | c0001 | t0006 | g0264 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01243 | hp1 | a0001 | c0001 | t0024 | g0095 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01243 | hp2 | a0001 | c0001 | t0013 | g0007 | AMR | PUR | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0088 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0295 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01257 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01257 | hp2 | a0001 | c0001 | t0002 | g0273 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01258 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01258 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0202 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0114 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01346 | hp1 | a0001 | c0001 | t0001 | g0143 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0147 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01361 | hp1 | a0001 | c0001 | t0019 | g0125 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01361 | hp2 | a0001 | c0001 | t0002 | g0100 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01433 | hp1 | a0001 | c0001 | t0005 | g0328 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0293 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0141 | AMR | CLM | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01515 | hp1 | a0001 | c0001 | t0006 | g0261 | EUR | IBS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0203 | EUR | IBS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0123 | EUR | IBS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0286 | EUR | IBS | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0186 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0099 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01891 | hp2 | a0001 | c0001 | t0005 | g0325 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01928 | hp1 | a0001 | c0001 | t0001 | g0144 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01928 | hp2 | a0001 | c0001 | t0002 | g0093 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01975 | hp1 | a0001 | c0001 | t0025 | g0266 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01975 | hp2 | a0001 | c0001 | t0001 | g0196 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01978 | hp1 | a0001 | c0001 | t0001 | g0194 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0161 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0137 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01981 | hp2 | a0001 | c0001 | t0002 | g0085 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01993 | hp1 | a0001 | c0001 | t0001 | g0189 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG01993 | hp2 | a0001 | c0001 | t0002 | g0048 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02015 | hp1 | a0001 | c0001 | t0002 | g0268 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02015 | hp2 | a0001 | c0001 | t0014 | g0191 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0130 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0256 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02056 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02071 | hp1 | a0001 | c0001 | t0002 | g0062 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0251 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0071 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0115 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02083 | hp2 | a0001 | c0001 | t0002 | g0238 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0004 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02129 | hp2 | a0001 | c0001 | t0001 | g0217 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0111 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02135 | hp2 | a0001 | c0001 | t0004 | g0050 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02145 | hp1 | a0002 | c0004 | t0001 | g0303 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02145 | hp2 | a0001 | c0001 | t0001 | g0211 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02155 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | CDX | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02155 | hp2 | a0001 | c0001 | t0001 | g0182 | EAS | CDX | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0214 | EAS | CDX | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | CDX | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0014 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02257 | hp2 | a0001 | c0001 | t0003 | g0311 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02258 | hp1 | a0001 | c0001 | t0012 | g0322 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0079 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02273 | hp1 | a0001 | c0001 | t0001 | g0087 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0140 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0011 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02280 | hp2 | a0001 | c0001 | t0023 | g0206 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02300 | hp1 | a0001 | c0001 | t0002 | g0271 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02300 | hp2 | a0001 | c0001 | t0002 | g0038 | AMR | PEL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0132 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0208 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02523 | hp2 | a0001 | c0001 | t0002 | g0044 | EAS | KHV | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02572 | hp1 | a0001 | c0001 | t0008 | g0233 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02572 | hp2 | a0001 | c0001 | t0002 | g0096 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0290 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02602 | hp2 | a0001 | c0001 | t0002 | g0067 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02622 | hp1 | a0001 | c0001 | t0002 | g0068 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02622 | hp2 | a0001 | c0001 | t0001 | g0126 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02630 | hp1 | a0001 | c0001 | t0002 | g0019 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02630 | hp2 | a0001 | c0001 | t0002 | g0024 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0237 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02683 | hp2 | a0001 | c0001 | t0003 | g0306 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02723 | hp1 | a0001 | c0001 | t0003 | g0313 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02723 | hp2 | a0001 | c0001 | t0005 | g0327 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0200 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0294 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02738 | hp1 | a0001 | c0001 | t0007 | g0277 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02738 | hp2 | a0001 | c0001 | t0001 | g0127 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02809 | hp1 | a0001 | c0001 | t0005 | g0332 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02809 | hp2 | a0001 | c0001 | t0002 | g0069 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02895 | hp1 | a0001 | c0001 | t0008 | g0210 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02895 | hp2 | a0001 | c0001 | t0003 | g0316 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02896 | hp1 | a0001 | c0001 | t0010 | g0249 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02896 | hp2 | a0001 | c0001 | t0002 | g0061 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02897 | hp1 | a0001 | c0001 | t0010 | g0248 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02897 | hp2 | a0001 | c0001 | t0003 | g0315 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02922 | hp1 | a0001 | c0001 | t0012 | g0323 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02922 | hp2 | a0001 | c0001 | t0009 | g0321 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02965 | hp1 | a0001 | c0001 | t0001 | g0234 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02965 | hp2 | a0001 | c0001 | t0005 | g0329 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02970 | hp1 | a0001 | c0001 | t0003 | g0309 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02970 | hp2 | a0001 | c0001 | t0005 | g0326 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02976 | hp1 | a0001 | c0001 | t0009 | g0319 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02976 | hp2 | a0001 | c0001 | t0002 | g0072 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0120 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0298 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03041 | hp1 | a0001 | c0001 | t0004 | g0020 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03041 | hp2 | a0001 | c0001 | t0003 | g0312 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03098 | hp1 | a0001 | c0001 | t0027 | g0338 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03098 | hp2 | a0001 | c0001 | t0008 | g0300 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03130 | hp1 | a0001 | c0001 | t0001 | g0073 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0179 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03139 | hp1 | a0001 | c0001 | t0028 | g0334 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03139 | hp2 | a0001 | c0001 | t0002 | g0070 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03195 | hp1 | a0001 | c0001 | t0004 | g0046 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03195 | hp2 | a0001 | c0001 | t0010 | g0270 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03209 | hp1 | a0001 | c0001 | t0004 | g0026 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03209 | hp2 | a0001 | c0001 | t0001 | g0201 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03225 | hp1 | a0001 | c0002 | t0002 | g0301 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03225 | hp2 | a0001 | c0001 | t0005 | g0336 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0232 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03239 | hp2 | a0001 | c0001 | t0001 | g0228 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0074 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03453 | hp2 | a0001 | c0001 | t0002 | g0023 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03486 | hp1 | a0001 | c0001 | t0017 | g0006 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0225 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0107 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03490 | hp2 | a0001 | c0001 | t0007 | g0278 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03492 | hp1 | a0001 | c0001 | t0007 | g0279 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03492 | hp2 | a0001 | c0001 | t0001 | g0157 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03516 | hp1 | a0001 | c0001 | t0009 | g0318 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0022 | AFR | ESN | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03540 | hp1 | a0001 | c0001 | t0001 | g0165 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03540 | hp2 | a0001 | c0001 | t0001 | g0215 | AFR | GWD | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03579 | hp1 | a0001 | c0001 | t0012 | g0324 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03579 | hp2 | a0001 | c0001 | t0021 | g0013 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0291 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03669 | hp2 | a0001 | c0001 | t0022 | g0030 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0121 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0134 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03704 | hp1 | a0001 | c0001 | t0003 | g0305 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03704 | hp2 | a0001 | c0001 | t0007 | g0280 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03710 | hp1 | a0001 | c0001 | t0001 | g0170 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03710 | hp2 | a0001 | c0001 | t0002 | g0083 | SAS | PJL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0183 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03831 | hp2 | a0001 | c0001 | t0001 | g0205 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03834 | hp1 | a0001 | c0001 | t0002 | g0066 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0110 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03942 | hp1 | a0001 | c0001 | t0001 | g0151 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03942 | hp2 | a0001 | c0001 | t0004 | g0028 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04184 | hp1 | a0001 | c0001 | t0008 | g0287 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0285 | SAS | BEB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0133 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0113 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04204 | hp1 | a0001 | c0001 | t0007 | g0276 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0158 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04228 | hp1 | a0001 | c0001 | t0001 | g0001 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG04228 | hp2 | a0003 | c0005 | t0001 | g0304 | SAS | STU | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18522 | hp1 | a0001 | c0001 | t0004 | g0032 | AFR | YRI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18522 | hp2 | a0001 | c0001 | t0003 | g0310 | AFR | YRI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | CHB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | CHB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18906 | hp1 | a0001 | c0001 | t0002 | g0090 | AFR | YRI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0010 | AFR | YRI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0219 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18939 | hp2 | a0001 | c0001 | t0016 | g0086 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18941 | hp1 | a0001 | c0001 | t0002 | g0246 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18941 | hp2 | a0001 | c0001 | t0002 | g0063 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18942 | hp1 | a0001 | c0001 | t0002 | g0039 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18943 | hp1 | a0001 | c0001 | t0026 | g0284 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0250 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18947 | hp2 | a0001 | c0001 | t0002 | g0059 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0269 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18948 | hp2 | a0001 | c0001 | t0004 | g0029 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18949 | hp1 | a0001 | c0001 | t0001 | g0207 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18949 | hp2 | a0001 | c0001 | t0002 | g0035 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18951 | hp1 | a0001 | c0001 | t0002 | g0009 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18952 | hp1 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18952 | hp2 | a0001 | c0001 | t0002 | g0257 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18957 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18959 | hp1 | a0001 | c0001 | t0002 | g0042 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0272 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18960 | hp2 | a0001 | c0001 | t0002 | g0025 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18961 | hp1 | a0001 | c0001 | t0003 | g0314 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18961 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18964 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18964 | hp2 | a0001 | c0001 | t0002 | g0171 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18966 | hp1 | a0001 | c0001 | t0001 | g0173 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18970 | hp1 | a0001 | c0001 | t0001 | g0241 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18970 | hp2 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18971 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18971 | hp2 | a0001 | c0001 | t0002 | g0253 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18973 | hp1 | a0001 | c0001 | t0002 | g0040 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18977 | hp1 | a0001 | c0001 | t0002 | g0243 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0056 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18980 | hp1 | a0001 | c0001 | t0002 | g0058 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18980 | hp2 | a0001 | c0001 | t0004 | g0027 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18983 | hp2 | a0001 | c0001 | t0002 | g0089 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18984 | hp2 | a0001 | c0001 | t0002 | g0175 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0230 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18986 | hp2 | a0001 | c0001 | t0002 | g0258 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0240 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18990 | hp2 | a0001 | c0001 | t0002 | g0247 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0177 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0212 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18995 | hp2 | a0001 | c0001 | t0004 | g0198 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18998 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA18998 | hp2 | a0001 | c0001 | t0020 | g0105 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0047 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19000 | hp2 | a0001 | c0001 | t0002 | g0245 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0176 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19002 | hp2 | a0001 | c0001 | t0002 | g0252 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19009 | hp1 | a0001 | c0001 | t0001 | g0297 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0156 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19010 | hp1 | a0001 | c0001 | t0002 | g0057 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19010 | hp2 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | LWK | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19030 | hp2 | a0001 | c0001 | t0011 | g0283 | AFR | LWK | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19043 | hp1 | a0001 | c0001 | t0015 | g0018 | AFR | LWK | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19043 | hp2 | a0001 | c0001 | t0013 | g0008 | AFR | LWK | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19055 | hp1 | a0001 | c0001 | t0003 | g0317 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19055 | hp2 | a0001 | c0001 | t0002 | g0052 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19057 | hp2 | a0001 | c0001 | t0001 | g0235 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19058 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19058 | hp2 | a0001 | c0001 | t0002 | g0220 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19060 | hp1 | a0001 | c0001 | t0016 | g0064 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19060 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19062 | hp2 | a0001 | c0001 | t0008 | g0288 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19066 | hp2 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19067 | hp1 | a0001 | c0001 | t0001 | g0274 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19067 | hp2 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19074 | hp1 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19074 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19077 | hp1 | a0001 | c0001 | t0002 | g0043 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0188 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19079 | hp1 | a0001 | c0001 | t0001 | g0224 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19079 | hp2 | a0001 | c0001 | t0002 | g0174 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19082 | hp1 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19082 | hp2 | a0001 | c0001 | t0002 | g0055 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19086 | hp1 | a0001 | c0001 | t0002 | g0254 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19086 | hp2 | a0001 | c0001 | t0002 | g0053 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19087 | hp2 | a0001 | c0001 | t0002 | g0034 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0236 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19088 | hp2 | a0001 | c0001 | t0002 | g0033 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19089 | hp1 | a0001 | c0001 | t0002 | g0181 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19089 | hp2 | a0001 | c0001 | t0004 | g0149 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19090 | hp2 | a0001 | c0001 | t0002 | g0244 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19091 | hp2 | a0001 | c0001 | t0002 | g0255 | EAS | JPT | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19240 | hp1 | a0001 | c0001 | t0008 | g0289 | AFR | YRI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA19240 | hp2 | a0001 | c0001 | t0011 | g0281 | AFR | YRI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20129 | hp1 | a0001 | c0001 | t0018 | g0017 | AFR | ASW | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0001 | AFR | ASW | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0131 | EUR | TSI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20805 | hp1 | a0001 | c0001 | t0001 | g0122 | EUR | TSI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0216 | EUR | TSI | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0299 | SAS | GIH | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0195 | SAS | GIH | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02109 | hp1 | a0001 | c0001 | t0003 | g0307 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02109 | hp2 | a0001 | c0001 | t0005 | g0335 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02559 | hp1 | a0001 | c0001 | t0005 | g0331 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG02559 | hp2 | a0001 | c0001 | t0003 | g0308 | AFR | ACB | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03471 | hp1 | a0001 | c0001 | t0001 | g0049 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG03471 | hp2 | a0001 | c0001 | t0005 | g0337 | AFR | MSL | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG06807 | hp1 | a0001 | c0001 | t0015 | g0075 | AFR | USA | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0076 | AFR | USA | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20300 | hp1 | a0001 | c0003 | t0001 | g0302 | AFR | USA | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA20300 | hp2 | a0001 | c0001 | t0005 | g0333 | AFR | USA | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | LWK | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| NA21309 | hp2 | a0001 | c0001 | t0011 | g0282 | AFR | LWK | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0135 | REF | REF | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0009 | g0320 | REF | REF | GCH1_chr14_54837017_54907826 | GCH1 | chr14 | 54837017 | 54907826 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:54902596 | G | A | 1 | a0002 | 1 | HG02145.hp1 | missense_variant | MODERATE | c.68C>T | p.Pro23Leu | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 231/2916 | 68/753 | 23/250 | chr14 | 54902596 | |||
| chr14:54902642 | C | A | 1 | a0003 | 1 | HG04228.hp2 | missense_variant | MODERATE | c.22G>T | p.Ala8Ser | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 185/2916 | 22/753 | 8/250 | chr14 | 54902642 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:54902453 | G | A | 1 | a0001c0002 | 1 | HG03225.hp1 | synonymous_variant | LOW | c.211C>T | p.Leu71Leu | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 374/2916 | 211/753 | 71/250 | chr14 | 54902453 | |||
| chr14:54902468 | G | A | 1 | a0001c0003 | 1 | NA20300.hp1 | synonymous_variant | LOW | c.196C>T | p.Leu66Leu | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 359/2916 | 196/753 | 66/250 | chr14 | 54902468 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:54842052 | C | A | 29 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show |
339 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
3_prime_UTR_variant | MODIFIER | c.*1965G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1965 | chr14 | 54842052 | ||||||
| chr14:54842102 | A | G | 3 | a0001c0001t0008 a0001c0001t0024 a0001c0001t0028 |
8 | HG01243.hp1 HG02572.hp1 HG02895.hp1 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*1915T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1915 | chr14 | 54842102 | ||||||
| chr14:54842451 | G | T | 1 | a0001c0001t0010 | 3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1566C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1566 | chr14 | 54842451 | ||||||
| chr14:54842484 | G | A | 1 | a0001c0001t0019 | 1 | HG01361.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1533C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1533 | chr14 | 54842484 | ||||||
| chr14:54842552 | A | AAT | 1 | a0001c0001t0007 | 6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1463_*1464dupAT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1464 | chr14 | 54842552 | ||||||
| chr14:54842787 | G | A | 1 | a0001c0001t0006 | 7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*1230C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1230 | chr14 | 54842787 | ||||||
| chr14:54842834 | G | A | 4 | a0001c0001t0005 a0001c0001t0015 a0001c0001t0021 others(1): Show |
16 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(13): Show |
3_prime_UTR_variant | MODIFIER | c.*1183C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1183 | chr14 | 54842834 | ||||||
| chr14:54842841 | G | C | 1 | a0001c0001t0011 | 3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1176C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1176 | chr14 | 54842841 | ||||||
| chr14:54842875 | C | T | 2 | a0001c0001t0005 a0001c0001t0015 |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1142G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1142 | chr14 | 54842875 | ||||||
| chr14:54842960 | G | GAT | 2 | a0001c0001t0005 a0001c0001t0015 |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*1056_*1057insAT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 1056 | chr14 | 54842960 | ||||||
| chr14:54843067 | G | A | 1 | a0001c0001t0020 | 1 | NA18998.hp2 | 3_prime_UTR_variant | MODIFIER | c.*950C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 950 | chr14 | 54843067 | ||||||
| chr14:54843094 | T | G | 1 | a0001c0001t0022 | 1 | HG03669.hp2 | 3_prime_UTR_variant | MODIFIER | c.*923A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 923 | chr14 | 54843094 | ||||||
| chr14:54843122 | AAAG | A | 8 | a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(5): Show |
34 | HG00558.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
3_prime_UTR_variant | MODIFIER | c.*892_*894delCTT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 892 | chr14 | 54843122 | ||||||
| chr14:54843187 | T | A | 1 | a0001c0001t0024 | 1 | HG01243.hp1 | 3_prime_UTR_variant | MODIFIER | c.*830A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 830 | chr14 | 54843187 | ||||||
| chr14:54843262 | G | C | 1 | a0001c0001t0025 | 1 | HG01975.hp1 | 3_prime_UTR_variant | MODIFIER | c.*755C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 755 | chr14 | 54843262 | ||||||
| chr14:54843281 | T | C | 1 | a0001c0001t0023 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*736A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 736 | chr14 | 54843281 | ||||||
| chr14:54843285 | T | C | 5 | a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 others(2): Show |
21 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*732A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 732 | chr14 | 54843285 | ||||||
| chr14:54843290 | T | C | 1 | a0001c0001t0016 | 2 | NA18939.hp2 NA19060.hp1 |
3_prime_UTR_variant | MODIFIER | c.*727A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 727 | chr14 | 54843290 | ||||||
| chr14:54843340 | C | T | 1 | a0001c0001t0013 | 2 | HG01243.hp2 NA19043.hp2 |
3_prime_UTR_variant | MODIFIER | c.*677G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 677 | chr14 | 54843340 | ||||||
| chr14:54843761 | T | C | 1 | a0001c0001t0026 | 1 | NA18943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*256A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 256 | chr14 | 54843761 | ||||||
| chr14:54843774 | G | A | 6 | a0001c0001t0002 a0001c0001t0011 a0001c0001t0016 others(3): Show |
98 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(95): Show |
3_prime_UTR_variant | MODIFIER | c.*243C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 243 | chr14 | 54843774 | ||||||
| chr14:54844005 | A | G | 1 | a0001c0001t0014 | 2 | HG00423.hp1 HG02015.hp2 |
3_prime_UTR_variant | MODIFIER | c.*12T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 6/6 | 12 | chr14 | 54844005 | ||||||
| chr14:54902703 | G | A | 4 | a0001c0001t0005 a0001c0001t0012 a0001c0001t0027 others(1): Show |
17 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(14): Show |
5_prime_UTR_variant | MODIFIER | c.-40C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 40 | chr14 | 54902703 | ||||||
| chr14:54902732 | C | G | 2 | a0001c0001t0013 a0001c0001t0017 |
3 | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
5_prime_UTR_variant | MODIFIER | c.-69G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 69 | chr14 | 54902732 | ||||||
| chr14:54902784 | A | G | 30 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(27): Show |
328 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(325): Show |
5_prime_UTR_variant | MODIFIER | c.-121T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 121 | chr14 | 54902784 | ||||||
| chr14:54902794 | G | A | 4 | a0001c0001t0005 a0001c0001t0012 a0001c0001t0027 others(1): Show |
17 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(14): Show |
5_prime_UTR_variant | MODIFIER | c.-131C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/6 | 131 | chr14 | 54902794 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr14:54844306 | C | T | 15 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(12): Show |
15 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.627-163G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54844306 | |||||||
| chr14:54844407 | T | C | 15 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(12): Show |
15 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.627-264A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54844407 | |||||||
| chr14:54844557 | A | G | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.627-414T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54844557 | |||||||
| chr14:54844851 | C | T | 97 | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0019 others(94): Show |
98 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(95): Show |
intron_variant | MODIFIER | c.627-708G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54844851 | |||||||
| chr14:54844898 | G | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.627-755C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54844898 | |||||||
| chr14:54844910 | G | A | 1 | a0001c0001t0001g0228 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.627-767C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54844910 | |||||||
| chr14:54845056 | C | T | 1 | a0001c0001t0015g0018 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.626+712G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845056 | |||||||
| chr14:54845182 | T | A | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18942.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.626+586A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845182 | |||||||
| chr14:54845189 | T | C | 2 | a0001c0001t0001g0134 a0001c0001t0003g0306 |
2 | HG02683.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.626+579A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845189 | |||||||
| chr14:54845218 | G | A | 1 | a0001c0001t0001g0107 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.626+550C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845218 | |||||||
| chr14:54845251 | G | A | 8 | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 others(5): Show |
8 | HG00558.hp1 HG02135.hp2 HG03669.hp2 others(5): Show |
intron_variant | MODIFIER | c.626+517C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845251 | |||||||
| chr14:54845261 | T | C | 58 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(55): Show |
58 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(55): Show |
intron_variant | MODIFIER | c.626+507A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845261 | |||||||
| chr14:54845276 | G | A | 3 | a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0038 |
3 | HG01070.hp1 HG01071.hp2 HG02300.hp2 |
intron_variant | MODIFIER | c.626+492C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845276 | |||||||
| chr14:54845288 | G | C | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.626+480C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845288 | |||||||
| chr14:54845296 | G | GATGA | 21 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(18): Show |
21 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.626+468_626+471dup others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845296 | |||||||
| chr14:54845340 | T | C | 21 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(18): Show |
21 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.626+428A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845340 | |||||||
| chr14:54845401 | C | A | 1 | a0001c0001t0001g0285 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.626+367G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845401 | |||||||
| chr14:54845477 | C | CAA | 34 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(31): Show |
34 | HG00558.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.626+289_626+290dup others(2): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845477 | |||||||
| chr14:54845679 | C | T | 1 | a0001c0001t0015g0018 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.626+89G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845679 | |||||||
| chr14:54845731 | A | G | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.626+37T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 5/5 | chr14 | 54845731 | |||||||
| chr14:54846052 | A | T | 1 | a0001c0001t0002g0268 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.542-200T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846052 | |||||||
| chr14:54846236 | T | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.542-384A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846236 | |||||||
| chr14:54846412 | G | C | 4 | a0001c0001t0001g0124 a0001c0001t0001g0189 a0001c0001t0001g0190 others(1): Show |
4 | HG01993.hp1 NA18957.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.542-560C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846412 | |||||||
| chr14:54846436 | C | T | 3 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0028g0334 |
3 | HG02572.hp1 HG02895.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.542-584G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846436 | |||||||
| chr14:54846613 | T | C | 21 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(18): Show |
21 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(18): Show |
intron_variant | MODIFIER | c.541+486A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846613 | |||||||
| chr14:54846788 | C | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.541+311G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846788 | |||||||
| chr14:54846890 | G | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.541+209C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846890 | |||||||
| chr14:54846915 | G | A | 1 | a0001c0001t0004g0027 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.541+184C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 4/5 | chr14 | 54846915 | |||||||
| chr14:54847217 | T | C | 1 | a0001c0001t0023g0206 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.510-87A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847217 | |||||||
| chr14:54847231 | C | T | 1 | a0001c0001t0001g0240 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.510-101G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847231 | |||||||
| chr14:54847280 | C | T | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.510-150G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847280 | |||||||
| chr14:54847306 | A | G | 7 | a0001c0001t0005g0325 a0001c0001t0005g0328 a0001c0001t0005g0331 others(4): Show |
7 | HG01433.hp1 HG01891.hp2 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.510-176T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847306 | |||||||
| chr14:54847361 | T | G | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.510-231A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847361 | |||||||
| chr14:54847427 | G | A | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.510-297C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847427 | |||||||
| chr14:54847495 | T | A | 37 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(34): Show |
37 | HG00558.hp1 HG00639.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.510-365A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847495 | |||||||
| chr14:54847549 | C | T | 3 | a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0032 |
3 | HG00639.hp2 HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.510-419G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847549 | |||||||
| chr14:54847666 | T | TTA | 112 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(109): Show |
113 | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(110): Show |
intron_variant | MODIFIER | c.510-538_510-537dup others(2): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847666 | |||||||
| chr14:54847666 | T | TTATA | 9 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0006g0259 others(6): Show |
9 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(6): Show |
intron_variant | MODIFIER | c.510-540_510-537dup others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847666 | |||||||
| chr14:54847684 | C | A | 13 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(10): Show |
13 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.510-554G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847684 | |||||||
| chr14:54847818 | AGAGAT | A | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.510-693_510-689del others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847818 | |||||||
| chr14:54847974 | C | G | 1 | a0001c0001t0001g0250 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.510-844G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54847974 | |||||||
| chr14:54848042 | G | C | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.510-912C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848042 | |||||||
| chr14:54848054 | C | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.510-924G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848054 | |||||||
| chr14:54848136 | C | CT | 15 | a0001c0001t0001g0126 a0001c0001t0001g0151 a0001c0001t0002g0038 others(12): Show |
15 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.510-1007dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848136 | |||||||
| chr14:54848136 | CT | C | 7 | a0001c0001t0001g0117 a0001c0001t0001g0195 a0001c0001t0002g0069 others(4): Show |
7 | HG00609.hp1 HG02809.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.510-1007delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848136 | |||||||
| chr14:54848230 | G | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.510-1100C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848230 | |||||||
| chr14:54848231 | G | T | 98 | a0001c0001t0001g0159 a0001c0001t0002g0002 a0001c0001t0002g0009 others(95): Show |
99 | HG00323.hp1 HG00423.hp2 HG00438.hp1 others(96): Show |
intron_variant | MODIFIER | c.510-1101C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848231 | |||||||
| chr14:54848265 | T | C | 1 | a0001c0001t0002g0145 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.510-1135A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848265 | |||||||
| chr14:54848269 | T | A | 1 | a0001c0001t0004g0046 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.510-1139A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848269 | |||||||
| chr14:54848286 | G | A | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.510-1156C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848286 | |||||||
| chr14:54848287 | T | C | 167 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(164): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.510-1157A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848287 | |||||||
| chr14:54848414 | C | T | 3 | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0230 |
4 | NA18971.hp1 NA18986.hp1 NA18991.hp2 others(1): Show |
intron_variant | MODIFIER | c.510-1284G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848414 | |||||||
| chr14:54848428 | C | T | 2 | a0001c0001t0002g0047 a0001c0001t0002g0053 |
2 | NA19000.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.510-1298G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848428 | |||||||
| chr14:54848499 | T | C | 1 | a0001c0001t0012g0322 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.510-1369A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848499 | |||||||
| chr14:54848692 | C | A | 1 | a0001c0001t0004g0027 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.510-1562G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848692 | |||||||
| chr14:54848694 | A | AC | 7 | a0001c0001t0001g0211 a0001c0001t0002g0048 a0001c0001t0002g0065 others(4): Show |
7 | HG01109.hp1 HG01243.hp1 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.510-1565dupG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848694 | |||||||
| chr14:54848698 | C | T | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.510-1568G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848698 | |||||||
| chr14:54848779 | T | C | 3 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0028g0334 |
3 | HG02572.hp1 HG02895.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.510-1649A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848779 | |||||||
| chr14:54848847 | A | T | 1 | a0001c0001t0022g0030 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.510-1717T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848847 | |||||||
| chr14:54848872 | T | C | 1 | a0001c0001t0001g0193 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.510-1742A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848872 | |||||||
| chr14:54848957 | T | C | 34 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(31): Show |
34 | HG00558.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.510-1827A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54848957 | |||||||
| chr14:54849082 | T | C | 1 | a0001c0001t0023g0206 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.510-1952A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849082 | |||||||
| chr14:54849138 | C | T | 1 | a0001c0001t0002g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.510-2008G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849138 | |||||||
| chr14:54849190 | G | A | 167 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(164): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.510-2060C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849190 | |||||||
| chr14:54849275 | A | T | 13 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(10): Show |
13 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(10): Show |
intron_variant | MODIFIER | c.510-2145T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849275 | |||||||
| chr14:54849339 | T | TA | 8 | a0001c0001t0001g0225 a0001c0001t0006g0259 a0001c0001t0006g0260 others(5): Show |
8 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(5): Show |
intron_variant | MODIFIER | c.510-2210dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849339 | |||||||
| chr14:54849425 | C | A | 3 | a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0032 |
3 | HG00639.hp2 HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.510-2295G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849425 | |||||||
| chr14:54849440 | C | T | 1 | a0001c0001t0001g0222 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.510-2310G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849440 | |||||||
| chr14:54849469 | T | G | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.510-2339A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849469 | |||||||
| chr14:54849473 | T | G | 1 | a0001c0001t0001g0131 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.510-2343A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849473 | |||||||
| chr14:54849514 | T | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.510-2384A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849514 | |||||||
| chr14:54849552 | A | G | 167 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(164): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.510-2422T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849552 | |||||||
| chr14:54849620 | C | T | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.510-2490G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849620 | |||||||
| chr14:54849666 | T | G | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.510-2536A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849666 | |||||||
| chr14:54849703 | T | C | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.510-2573A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849703 | |||||||
| chr14:54849794 | C | T | 167 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(164): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.510-2664G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849794 | |||||||
| chr14:54849809 | A | T | 1 | a0001c0001t0002g0256 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.510-2679T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849809 | |||||||
| chr14:54849823 | T | C | 11 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(8): Show |
11 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(8): Show |
intron_variant | MODIFIER | c.510-2693A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849823 | |||||||
| chr14:54849939 | G | C | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.510-2809C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54849939 | |||||||
| chr14:54850004 | T | C | 2 | a0001c0001t0001g0229 a0001c0001t0001g0241 |
2 | NA18970.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.510-2874A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850004 | |||||||
| chr14:54850021 | C | A | 1 | a0001c0001t0006g0259 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.510-2891G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850021 | |||||||
| chr14:54850025 | A | C | 1 | a0001c0001t0003g0314 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.510-2895T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850025 | |||||||
| chr14:54850188 | G | A | 1 | a0001c0001t0021g0013 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.510-3058C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850188 | |||||||
| chr14:54850227 | C | T | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.510-3097G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850227 | |||||||
| chr14:54850305 | C | CT | 27 | a0001c0001t0001g0130 a0001c0001t0001g0137 a0001c0001t0001g0144 others(24): Show |
27 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.510-3176dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850305 | |||||||
| chr14:54850305 | CT | C | 18 | a0001c0001t0002g0063 a0001c0001t0002g0103 a0001c0001t0002g0244 others(15): Show |
18 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(15): Show |
intron_variant | MODIFIER | c.510-3176delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850305 | |||||||
| chr14:54850324 | T | C | 1 | a0001c0001t0001g0162 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.510-3194A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850324 | |||||||
| chr14:54850336 | G | C | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.510-3206C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850336 | |||||||
| chr14:54850338 | G | C | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.510-3208C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850338 | |||||||
| chr14:54850455 | G | A | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.510-3325C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850455 | |||||||
| chr14:54850483 | G | GT | 9 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(6): Show |
9 | HG01891.hp1 HG02257.hp1 HG02896.hp1 others(6): Show |
intron_variant | MODIFIER | c.510-3354dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850483 | |||||||
| chr14:54850587 | C | T | 8 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(5): Show |
8 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(5): Show |
intron_variant | MODIFIER | c.510-3457G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850587 | |||||||
| chr14:54850588 | G | A | 13 | a0001c0001t0004g0020 a0001c0001t0004g0027 a0001c0001t0004g0028 others(10): Show |
13 | HG00558.hp1 HG02135.hp2 HG02258.hp1 others(10): Show |
intron_variant | MODIFIER | c.510-3458C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850588 | |||||||
| chr14:54850625 | C | T | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18942.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.510-3495G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850625 | |||||||
| chr14:54850627 | A | G | 1 | a0001c0001t0001g0274 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.510-3497T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850627 | |||||||
| chr14:54850646 | G | A | 4 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(1): Show |
4 | HG00738.hp2 HG01496.hp2 HG02273.hp2 others(1): Show |
intron_variant | MODIFIER | c.510-3516C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850646 | |||||||
| chr14:54850695 | T | C | 12 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(9): Show |
12 | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.510-3565A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850695 | |||||||
| chr14:54850802 | A | G | 1 | a0001c0001t0002g0220 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.510-3672T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850802 | |||||||
| chr14:54850941 | G | C | 1 | a0001c0001t0001g0146 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.510-3811C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850941 | |||||||
| chr14:54850965 | G | A | 1 | a0001c0001t0001g0110 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.510-3835C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850965 | |||||||
| chr14:54850993 | G | C | 7 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 others(4): Show |
7 | HG02572.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.510-3863C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54850993 | |||||||
| chr14:54851160 | C | G | 1 | a0001c0001t0001g0186 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.510-4030G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851160 | |||||||
| chr14:54851201 | C | T | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.510-4071G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851201 | |||||||
| chr14:54851285 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.510-4155T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851285 | |||||||
| chr14:54851335 | C | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.510-4205G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851335 | |||||||
| chr14:54851409 | A | G | 26 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0108 others(23): Show |
27 | HG00597.hp1 HG01070.hp2 HG01106.hp1 others(24): Show |
intron_variant | MODIFIER | c.510-4279T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851409 | |||||||
| chr14:54851410 | G | A | 1 | a0001c0001t0003g0317 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.510-4280C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851410 | |||||||
| chr14:54851411 | A | G | 1 | a0001c0001t0003g0317 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.510-4281T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851411 | |||||||
| chr14:54851506 | G | T | 7 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 others(4): Show |
7 | HG02572.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.510-4376C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851506 | |||||||
| chr14:54851580 | C | T | 3 | a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 |
3 | HG00642.hp2 HG01255.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.510-4450G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851580 | |||||||
| chr14:54851628 | C | A | 163 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(160): Show |
164 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(161): Show |
intron_variant | MODIFIER | c.510-4498G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851628 | |||||||
| chr14:54851653 | C | A | 3 | a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0032 |
3 | HG00639.hp2 HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.510-4523G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851653 | |||||||
| chr14:54851807 | C | T | 1 | a0001c0001t0002g0044 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.510-4677G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851807 | |||||||
| chr14:54851924 | A | T | 1 | a0001c0001t0003g0317 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.510-4794T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851924 | |||||||
| chr14:54851966 | T | C | 3 | a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0012g0324 |
3 | HG02258.hp1 HG02922.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.510-4836A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851966 | |||||||
| chr14:54851985 | T | TCAC | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.510-4858_510-4856d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851985 | |||||||
| chr14:54851994 | T | G | 1 | a0001c0001t0003g0317 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.510-4864A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54851994 | |||||||
| chr14:54852175 | A | T | 1 | a0001c0001t0002g0025 | 1 | NA18960.hp2 | intron_variant | MODIFIER | c.510-5045T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852175 | |||||||
| chr14:54852242 | C | T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.510-5112G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852242 | |||||||
| chr14:54852312 | A | G | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.510-5182T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852312 | |||||||
| chr14:54852406 | G | T | 1 | a0001c0001t0001g0199 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.510-5276C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852406 | |||||||
| chr14:54852460 | C | T | 1 | a0001c0001t0001g0099 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.510-5330G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852460 | |||||||
| chr14:54852495 | G | T | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.510-5365C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852495 | |||||||
| chr14:54852698 | T | C | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.510-5568A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852698 | |||||||
| chr14:54852796 | G | A | 167 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(164): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.510-5666C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54852796 | |||||||
| chr14:54853026 | C | T | 1 | a0001c0001t0004g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.510-5896G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853026 | |||||||
| chr14:54853057 | G | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.510-5927C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853057 | |||||||
| chr14:54853071 | C | T | 1 | a0001c0001t0001g0110 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.510-5941G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853071 | |||||||
| chr14:54853171 | TCAGGCTG others(6317): Show |
T | 1 | a0001c0001t0002g0051 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.509+186_510-6042de others(1): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853171 | |||||||
| chr14:54853217 | G | C | 1 | a0001c0001t0003g0317 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.510-6087C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853217 | |||||||
| chr14:54853218 | C | G | 1 | a0001c0001t0003g0317 | 1 | NA19055.hp1 | intron_variant | MODIFIER | c.510-6088G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853218 | |||||||
| chr14:54853390 | A | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.510-6260T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853390 | |||||||
| chr14:54853414 | C | T | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+6267G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853414 | |||||||
| chr14:54853479 | G | A | 34 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(31): Show |
34 | HG00558.hp1 HG00639.hp2 HG01081.hp1 others(31): Show |
intron_variant | MODIFIER | c.509+6202C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853479 | |||||||
| chr14:54853552 | C | T | 21 | a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0032 others(18): Show |
21 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(18): Show |
intron_variant | MODIFIER | c.509+6129G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853552 | |||||||
| chr14:54853603 | G | A | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.509+6078C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853603 | |||||||
| chr14:54853639 | G | T | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.509+6042C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853639 | |||||||
| chr14:54853738 | AT | A | 44 | a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0016 others(41): Show |
44 | HG00558.hp1 HG00639.hp2 HG01069.hp2 others(41): Show |
intron_variant | MODIFIER | c.509+5942delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853738 | |||||||
| chr14:54853738 | ATT | A | 7 | a0001c0001t0001g0014 a0001c0001t0007g0275 a0001c0001t0007g0276 others(4): Show |
7 | HG00323.hp2 HG02257.hp1 HG02738.hp1 others(4): Show |
intron_variant | MODIFIER | c.509+5941_509+5942d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853738 | |||||||
| chr14:54853845 | T | C | 97 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(94): Show |
98 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.509+5836A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853845 | |||||||
| chr14:54853938 | C | G | 1 | a0001c0001t0004g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.509+5743G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54853938 | |||||||
| chr14:54854067 | G | A | 118 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(115): Show |
119 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(116): Show |
intron_variant | MODIFIER | c.509+5614C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854067 | |||||||
| chr14:54854091 | C | T | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.509+5590G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854091 | |||||||
| chr14:54854314 | G | A | 1 | a0001c0001t0002g0022 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.509+5367C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854314 | |||||||
| chr14:54854496 | A | G | 1 | a0001c0001t0001g0293 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.509+5185T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854496 | |||||||
| chr14:54854520 | C | CA | 10 | a0001c0001t0001g0237 a0001c0001t0003g0314 a0001c0001t0003g0317 others(7): Show |
10 | HG02572.hp1 HG02683.hp1 HG02895.hp1 others(7): Show |
intron_variant | MODIFIER | c.509+5160dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854520 | |||||||
| chr14:54854668 | T | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+5013A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854668 | |||||||
| chr14:54854701 | T | C | 3 | a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0012g0324 |
3 | HG02258.hp1 HG02922.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.509+4980A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854701 | |||||||
| chr14:54854847 | C | T | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.509+4834G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854847 | |||||||
| chr14:54854897 | G | C | 1 | a0001c0001t0002g0299 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.509+4784C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854897 | |||||||
| chr14:54854929 | A | G | 1 | a0001c0001t0002g0040 | 1 | NA18973.hp1 | intron_variant | MODIFIER | c.509+4752T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54854929 | |||||||
| chr14:54855012 | CA | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+4668delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855012 | |||||||
| chr14:54855015 | AAAG | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+4663_509+4665d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855015 | |||||||
| chr14:54855078 | C | G | 3 | a0001c0001t0001g0156 a0001c0001t0001g0204 a0001c0001t0001g0221 |
3 | NA18973.hp2 NA19009.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.509+4603G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855078 | |||||||
| chr14:54855248 | G | A | 1 | a0001c0001t0002g0060 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.509+4433C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855248 | |||||||
| chr14:54855334 | C | T | 1 | a0001c0001t0007g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.509+4347G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855334 | |||||||
| chr14:54855434 | A | AGGTGGAG | 12 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(9): Show |
12 | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.509+4240_509+4246d others(9): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855434 | |||||||
| chr14:54855469 | G | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.509+4212C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855469 | |||||||
| chr14:54855505 | C | CA | 32 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(29): Show |
32 | HG00558.hp2 HG00621.hp2 HG00673.hp2 others(29): Show |
intron_variant | MODIFIER | c.509+4175dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(3): Show |
29 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0002g0022 others(26): Show |
29 | HG00621.hp1 HG01070.hp1 HG01071.hp2 others(26): Show |
intron_variant | MODIFIER | c.509+4166_509+4175d others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(4): Show |
37 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(34): Show |
38 | HG00735.hp1 HG01074.hp1 HG01081.hp2 others(35): Show |
intron_variant | MODIFIER | c.509+4165_509+4175d others(13): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(5): Show |
26 | a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0035 others(23): Show |
26 | HG00323.hp1 HG00597.hp2 HG00741.hp2 others(23): Show |
intron_variant | MODIFIER | c.509+4164_509+4175d others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(6): Show |
5 | a0001c0001t0002g0024 a0001c0001t0002g0057 a0001c0001t0002g0060 others(2): Show |
5 | HG00609.hp2 HG02630.hp2 NA19000.hp2 others(2): Show |
intron_variant | MODIFIER | c.509+4163_509+4175d others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(8): Show |
3 | a0001c0001t0008g0233 a0001c0001t0008g0300 a0001c0001t0013g0007 |
3 | HG01243.hp2 HG02572.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.509+4161_509+4175d others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(9): Show |
8 | a0001c0001t0004g0020 a0001c0001t0008g0210 a0001c0001t0008g0287 others(5): Show |
8 | HG02895.hp1 HG02922.hp1 HG03041.hp1 others(5): Show |
intron_variant | MODIFIER | c.509+4160_509+4175d others(18): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(10): Show |
7 | a0001c0001t0004g0028 a0001c0001t0004g0046 a0001c0001t0004g0050 others(4): Show |
7 | HG00558.hp1 HG02135.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.509+4159_509+4175d others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(11): Show |
2 | a0001c0001t0001g0073 a0001c0001t0004g0026 |
2 | HG03130.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.509+4158_509+4175d others(20): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(12): Show |
3 | a0001c0001t0001g0074 a0001c0001t0004g0031 a0001c0001t0013g0008 |
3 | HG00639.hp2 HG03453.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.509+4157_509+4175d others(21): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(13): Show |
1 | a0001c0001t0004g0032 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.509+4156_509+4175d others(22): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(15): Show |
3 | a0001c0001t0001g0049 a0001c0001t0004g0029 a0001c0001t0021g0013 |
3 | HG03471.hp1 HG03579.hp2 NA18948.hp2 |
intron_variant | MODIFIER | c.509+4154_509+4175d others(24): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(17): Show |
1 | a0001c0001t0001g0099 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.509+4152_509+4175d others(26): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(18): Show |
1 | a0001c0001t0004g0027 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.509+4175_509+4176i others(27): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | C | CAAAAAAA others(20): Show |
1 | a0001c0001t0001g0094 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.509+4175_509+4176i others(29): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855505 | CAA | C | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.509+4174_509+4175d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855505 | |||||||
| chr14:54855541 | G | A | 12 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(9): Show |
12 | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(9): Show |
intron_variant | MODIFIER | c.509+4140C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855541 | |||||||
| chr14:54855542 | C | G | 97 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(94): Show |
98 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.509+4139G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855542 | |||||||
| chr14:54855584 | C | T | 1 | a0001c0001t0008g0210 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.509+4097G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855584 | |||||||
| chr14:54855671 | A | G | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.509+4010T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855671 | |||||||
| chr14:54855717 | G | A | 7 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 others(4): Show |
7 | HG02572.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.509+3964C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855717 | |||||||
| chr14:54855956 | T | C | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.509+3725A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54855956 | |||||||
| chr14:54856005 | T | G | 1 | a0001c0001t0002g0019 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.509+3676A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54856005 | |||||||
| chr14:54856027 | G | GA | 161 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(158): Show |
162 | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(159): Show |
intron_variant | MODIFIER | c.509+3653dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54856027 | |||||||
| chr14:54856133 | T | C | 97 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(94): Show |
98 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.509+3548A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54856133 | |||||||
| chr14:54856585 | T | C | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.509+3096A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54856585 | |||||||
| chr14:54856732 | C | T | 91 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(88): Show |
93 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(90): Show |
intron_variant | MODIFIER | c.509+2949G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54856732 | |||||||
| chr14:54857316 | A | G | 7 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 others(4): Show |
7 | HG02572.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.509+2365T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54857316 | |||||||
| chr14:54857545 | T | TCCC | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+2135_509+2136i others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54857545 | |||||||
| chr14:54857546 | T | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+2135A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54857546 | |||||||
| chr14:54857758 | G | GA | 7 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 others(4): Show |
7 | HG02572.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.509+1922dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54857758 | |||||||
| chr14:54858115 | T | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+1566A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858115 | |||||||
| chr14:54858130 | A | G | 166 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(163): Show |
167 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(164): Show |
intron_variant | MODIFIER | c.509+1551T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858130 | |||||||
| chr14:54858134 | G | GT | 124 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0071 others(121): Show |
125 | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(122): Show |
intron_variant | MODIFIER | c.509+1546dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858134 | |||||||
| chr14:54858210 | G | T | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+1471C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858210 | |||||||
| chr14:54858351 | T | A | 1 | a0001c0001t0001g0152 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.509+1330A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858351 | |||||||
| chr14:54858364 | C | T | 1 | a0001c0001t0002g0145 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.509+1317G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858364 | |||||||
| chr14:54858443 | G | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.509+1238C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858443 | |||||||
| chr14:54858574 | C | T | 1 | a0001c0001t0001g0240 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.509+1107G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858574 | |||||||
| chr14:54858585 | C | T | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.509+1096G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858585 | |||||||
| chr14:54858800 | A | T | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18942.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.509+881T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858800 | |||||||
| chr14:54858829 | T | C | 3 | a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0006g0264 |
3 | HG01069.hp2 HG01071.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.509+852A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858829 | |||||||
| chr14:54858865 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.509+816A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858865 | |||||||
| chr14:54858865 | T | G | 97 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(94): Show |
98 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(95): Show |
intron_variant | MODIFIER | c.509+816A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858865 | |||||||
| chr14:54858925 | A | G | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.509+756T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54858925 | |||||||
| chr14:54859030 | C | T | 1 | a0001c0001t0004g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.509+651G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859030 | |||||||
| chr14:54859105 | C | T | 16 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(13): Show |
16 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.509+576G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859105 | |||||||
| chr14:54859144 | A | T | 94 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(91): Show |
95 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(92): Show |
intron_variant | MODIFIER | c.509+537T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859144 | |||||||
| chr14:54859211 | A | G | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.509+470T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859211 | |||||||
| chr14:54859275 | G | T | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.509+406C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859275 | |||||||
| chr14:54859437 | G | A | 2 | a0001c0001t0001g0156 a0001c0001t0001g0204 |
2 | NA19009.hp2 NA19058.hp1 |
intron_variant | MODIFIER | c.509+244C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859437 | |||||||
| chr14:54859511 | G | A | 1 | a0001c0001t0001g0173 | 1 | NA18966.hp1 | intron_variant | MODIFIER | c.509+170C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859511 | |||||||
| chr14:54859613 | T | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.509+68A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859613 | |||||||
| chr14:54859666 | C | T | 1 | a0001c0001t0002g0019 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.509+15G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 3/5 | chr14 | 54859666 | |||||||
| chr14:54859948 | ATATAAG | A | 8 | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 others(5): Show |
8 | HG00558.hp1 HG02135.hp2 HG03669.hp2 others(5): Show |
intron_variant | MODIFIER | c.454-218_454-213del others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54859948 | |||||||
| chr14:54860193 | T | C | 1 | a0001c0001t0002g0019 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.454-457A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860193 | |||||||
| chr14:54860228 | C | G | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.454-492G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860228 | |||||||
| chr14:54860237 | GAC | G | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.454-503_454-502del others(2): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860237 | |||||||
| chr14:54860273 | C | A | 3 | a0001c0001t0001g0237 a0001c0001t0003g0314 a0001c0001t0003g0317 |
3 | HG02683.hp1 NA18961.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.454-537G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860273 | |||||||
| chr14:54860473 | A | G | 1 | a0001c0001t0021g0013 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.454-737T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860473 | |||||||
| chr14:54860538 | C | CT | 24 | a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 others(21): Show |
25 | HG00558.hp1 HG00621.hp1 HG01175.hp2 others(22): Show |
intron_variant | MODIFIER | c.454-803dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860538 | |||||||
| chr14:54860538 | CT | C | 9 | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0154 others(6): Show |
10 | HG01257.hp2 HG02896.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.454-803delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860538 | |||||||
| chr14:54860600 | G | A | 1 | a0001c0001t0002g0057 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.454-864C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860600 | |||||||
| chr14:54860601 | C | T | 7 | a0001c0001t0008g0210 a0001c0001t0008g0233 a0001c0001t0008g0287 others(4): Show |
7 | HG02572.hp1 HG02895.hp1 HG03098.hp2 others(4): Show |
intron_variant | MODIFIER | c.454-865G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860601 | |||||||
| chr14:54860605 | G | A | 331 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(328): Show |
339 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
intron_variant | MODIFIER | c.454-869C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860605 | |||||||
| chr14:54860628 | C | A | 1 | a0001c0001t0005g0333 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.454-892G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860628 | |||||||
| chr14:54860662 | T | G | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.454-926A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860662 | |||||||
| chr14:54860740 | C | T | 5 | a0001c0001t0007g0276 a0001c0001t0007g0277 a0001c0001t0007g0278 others(2): Show |
5 | HG02738.hp1 HG03490.hp2 HG03492.hp1 others(2): Show |
intron_variant | MODIFIER | c.454-1004G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860740 | |||||||
| chr14:54860819 | G | A | 125 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(122): Show |
126 | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(123): Show |
intron_variant | MODIFIER | c.454-1083C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860819 | |||||||
| chr14:54860835 | G | A | 30 | a0001c0001t0002g0009 a0001c0001t0002g0103 a0001c0001t0002g0171 others(27): Show |
30 | HG00621.hp1 HG01168.hp1 HG01169.hp2 others(27): Show |
intron_variant | MODIFIER | c.454-1099C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54860835 | |||||||
| chr14:54861030 | C | T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.454-1294G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861030 | |||||||
| chr14:54861279 | T | A | 2 | a0001c0001t0001g0056 a0001c0001t0001g0180 |
2 | HG00673.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.454-1543A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861279 | |||||||
| chr14:54861338 | T | C | 3 | a0001c0001t0008g0287 a0001c0001t0008g0288 a0001c0001t0008g0289 |
3 | HG04184.hp1 NA19062.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.454-1602A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861338 | |||||||
| chr14:54861372 | C | T | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.454-1636G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861372 | |||||||
| chr14:54861489 | A | G | 1 | a0001c0001t0001g0235 | 1 | NA19057.hp2 | intron_variant | MODIFIER | c.454-1753T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861489 | |||||||
| chr14:54861507 | G | A | 1 | a0001c0001t0023g0206 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.454-1771C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861507 | |||||||
| chr14:54861655 | G | A | 1 | a0001c0001t0001g0157 | 1 | HG03492.hp2 | intron_variant | MODIFIER | c.454-1919C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861655 | |||||||
| chr14:54861686 | G | A | 1 | a0003c0005t0001g0304 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.454-1950C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861686 | |||||||
| chr14:54861695 | C | T | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.454-1959G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861695 | |||||||
| chr14:54861711 | G | A | 167 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(164): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.454-1975C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861711 | |||||||
| chr14:54861721 | CA | C | 47 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(44): Show |
47 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(44): Show |
intron_variant | MODIFIER | c.454-1986delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861721 | |||||||
| chr14:54861721 | CAA | C | 98 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0049 others(95): Show |
99 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(96): Show |
intron_variant | MODIFIER | c.454-1987_454-1986d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861721 | |||||||
| chr14:54861842 | T | A | 1 | a0001c0001t0001g0142 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.454-2106A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861842 | |||||||
| chr14:54861917 | C | T | 126 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(123): Show |
127 | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(124): Show |
intron_variant | MODIFIER | c.454-2181G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861917 | |||||||
| chr14:54861934 | T | C | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.454-2198A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861934 | |||||||
| chr14:54861955 | C | T | 3 | a0001c0001t0001g0126 a0001c0001t0003g0315 a0001c0001t0003g0316 |
3 | HG02622.hp2 HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.454-2219G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54861955 | |||||||
| chr14:54862003 | G | A | 1 | a0001c0001t0001g0196 | 1 | HG01975.hp2 | intron_variant | MODIFIER | c.454-2267C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862003 | |||||||
| chr14:54862094 | T | C | 1 | a0001c0001t0003g0305 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.454-2358A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862094 | |||||||
| chr14:54862095 | C | G | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.454-2359G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862095 | |||||||
| chr14:54862182 | C | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.454-2446G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862182 | |||||||
| chr14:54862203 | T | A | 117 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(114): Show |
118 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(115): Show |
intron_variant | MODIFIER | c.454-2467A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862203 | |||||||
| chr14:54862204 | A | T | 14 | a0001c0001t0001g0189 a0001c0001t0004g0020 a0001c0001t0004g0027 others(11): Show |
14 | HG00558.hp1 HG01993.hp1 HG02135.hp2 others(11): Show |
intron_variant | MODIFIER | c.454-2468T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862204 | |||||||
| chr14:54862213 | T | A | 1 | a0001c0001t0002g0244 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.454-2477A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862213 | |||||||
| chr14:54862257 | T | C | 2 | a0001c0001t0002g0061 a0001c0002t0002g0301 |
2 | HG02896.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.454-2521A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862257 | |||||||
| chr14:54862362 | C | G | 116 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(113): Show |
117 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(114): Show |
intron_variant | MODIFIER | c.454-2626G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862362 | |||||||
| chr14:54862363 | C | T | 1 | a0001c0001t0003g0314 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.454-2627G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862363 | |||||||
| chr14:54862376 | ACT | A | 16 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0002g0023 others(13): Show |
16 | HG01109.hp1 HG01891.hp1 HG01928.hp2 others(13): Show |
intron_variant | MODIFIER | c.454-2642_454-2641d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862376 | |||||||
| chr14:54862377 | C | CT | 15 | a0001c0001t0004g0026 a0001c0001t0005g0325 a0001c0001t0005g0326 others(12): Show |
15 | HG01433.hp1 HG01891.hp2 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.454-2642dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862377 | |||||||
| chr14:54862377 | CTCT | C | 90 | a0001c0001t0001g0071 a0001c0001t0002g0002 a0001c0001t0002g0009 others(87): Show |
91 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.454-2644_454-2642d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862377 | |||||||
| chr14:54862377 | CTCTT | C | 6 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
6 | HG01168.hp1 HG01884.hp2 HG02055.hp2 others(3): Show |
intron_variant | MODIFIER | c.454-2645_454-2642d others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862377 | |||||||
| chr14:54862378 | TC | T | 18 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(15): Show |
18 | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(15): Show |
intron_variant | MODIFIER | c.454-2643delG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862378 | |||||||
| chr14:54862379 | C | CT | 22 | a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 others(19): Show |
22 | HG00438.hp2 HG00735.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.454-2644dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862379 | |||||||
| chr14:54862379 | C | T | 37 | a0001c0001t0003g0309 a0001c0001t0004g0020 a0001c0001t0004g0026 others(34): Show |
37 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(34): Show |
intron_variant | MODIFIER | c.454-2643G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862379 | |||||||
| chr14:54862477 | G | A | 1 | a0001c0001t0001g0139 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.454-2741C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862477 | |||||||
| chr14:54862485 | C | T | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.454-2749G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862485 | |||||||
| chr14:54862521 | C | CACAGA | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.454-2786_454-2785i others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862521 | |||||||
| chr14:54862556 | C | T | 126 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(123): Show |
127 | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(124): Show |
intron_variant | MODIFIER | c.453+2771G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862556 | |||||||
| chr14:54862593 | G | GT | 47 | a0001c0001t0001g0056 a0001c0001t0001g0127 a0001c0001t0001g0130 others(44): Show |
47 | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(44): Show |
intron_variant | MODIFIER | c.453+2733dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862593 | |||||||
| chr14:54862593 | G | GTT | 13 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(10): Show |
13 | HG00140.hp2 HG00639.hp1 HG01069.hp2 others(10): Show |
intron_variant | MODIFIER | c.453+2732_453+2733d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862593 | |||||||
| chr14:54862593 | G | GTTT | 91 | a0001c0001t0001g0049 a0001c0001t0001g0071 a0001c0001t0001g0073 others(88): Show |
92 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(89): Show |
intron_variant | MODIFIER | c.453+2731_453+2733d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862593 | |||||||
| chr14:54862593 | G | GTTTT | 16 | a0001c0001t0002g0019 a0001c0001t0002g0037 a0001c0001t0002g0040 others(13): Show |
16 | HG00609.hp2 HG00735.hp1 HG01070.hp1 others(13): Show |
intron_variant | MODIFIER | c.453+2730_453+2733d others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862593 | |||||||
| chr14:54862608 | G | T | 1 | a0001c0001t0001g0130 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.453+2719C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862608 | |||||||
| chr14:54862613 | G | GT | 90 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(87): Show |
92 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(89): Show |
intron_variant | MODIFIER | c.453+2713dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862613 | |||||||
| chr14:54862613 | GT | G | 121 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(118): Show |
122 | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(119): Show |
intron_variant | MODIFIER | c.453+2713delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862613 | |||||||
| chr14:54862734 | C | T | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.453+2593G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862734 | |||||||
| chr14:54862797 | T | C | 1 | a0001c0001t0002g0059 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.453+2530A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862797 | |||||||
| chr14:54862980 | A | G | 2 | a0001c0001t0002g0025 a0001c0001t0002g0060 |
2 | HG00609.hp2 NA18960.hp2 |
intron_variant | MODIFIER | c.453+2347T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54862980 | |||||||
| chr14:54863065 | T | A | 1 | a0001c0001t0001g0147 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.453+2262A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863065 | |||||||
| chr14:54863148 | G | A | 3 | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0230 |
4 | NA18971.hp1 NA18986.hp1 NA18991.hp2 others(1): Show |
intron_variant | MODIFIER | c.453+2179C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863148 | |||||||
| chr14:54863158 | G | A | 2 | a0001c0001t0001g0226 a0001c0001t0001g0235 |
2 | NA19057.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.453+2169C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863158 | |||||||
| chr14:54863165 | A | G | 3 | a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0012g0324 |
3 | HG02258.hp1 HG02922.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.453+2162T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863165 | |||||||
| chr14:54863190 | C | T | 16 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(13): Show |
16 | HG01081.hp1 HG01243.hp2 HG01433.hp1 others(13): Show |
intron_variant | MODIFIER | c.453+2137G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863190 | |||||||
| chr14:54863202 | G | A | 5 | a0001c0001t0001g0104 a0001c0001t0001g0196 a0001c0001t0001g0222 others(2): Show |
5 | HG01975.hp2 HG02165.hp2 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.453+2125C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863202 | |||||||
| chr14:54863204 | G | A | 5 | a0001c0001t0001g0104 a0001c0001t0001g0196 a0001c0001t0001g0222 others(2): Show |
5 | HG01975.hp2 HG02165.hp2 NA18951.hp2 others(2): Show |
intron_variant | MODIFIER | c.453+2123C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863204 | |||||||
| chr14:54863236 | C | A | 3 | a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0002g0060 |
3 | HG00609.hp2 NA18942.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.453+2091G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863236 | |||||||
| chr14:54863236 | C | G | 51 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0087 others(48): Show |
52 | HG00323.hp2 HG00423.hp2 HG00597.hp1 others(49): Show |
intron_variant | MODIFIER | c.453+2091G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863236 | |||||||
| chr14:54863247 | T | C | 1 | a0001c0001t0028g0334 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.453+2080A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863247 | |||||||
| chr14:54863247 | T | G | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.453+2080A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863247 | |||||||
| chr14:54863280 | A | G | 1 | a0001c0001t0001g0285 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.453+2047T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863280 | |||||||
| chr14:54863291 | A | G | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.453+2036T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863291 | |||||||
| chr14:54863346 | C | T | 51 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(48): Show |
52 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(49): Show |
intron_variant | MODIFIER | c.453+1981G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863346 | |||||||
| chr14:54863400 | C | T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.453+1927G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863400 | |||||||
| chr14:54863421 | C | CA | 61 | a0001c0001t0001g0010 a0001c0001t0001g0021 a0001c0001t0001g0054 others(58): Show |
61 | HG00423.hp1 HG00423.hp2 HG00558.hp2 others(58): Show |
intron_variant | MODIFIER | c.453+1905dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863421 | |||||||
| chr14:54863421 | CA | C | 69 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0071 others(66): Show |
70 | HG00323.hp1 HG00438.hp1 HG00621.hp1 others(67): Show |
intron_variant | MODIFIER | c.453+1905delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863421 | |||||||
| chr14:54863421 | CAA | C | 7 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0003g0309 others(4): Show |
7 | HG00323.hp2 HG01891.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.453+1904_453+1905d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863421 | |||||||
| chr14:54863451 | T | C | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.453+1876A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863451 | |||||||
| chr14:54863499 | C | CA | 29 | a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0117 others(26): Show |
29 | HG00140.hp2 HG00609.hp1 HG00639.hp1 others(26): Show |
intron_variant | MODIFIER | c.453+1827dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863499 | |||||||
| chr14:54863499 | CA | C | 70 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0168 others(67): Show |
75 | HG00323.hp2 HG00408.hp2 HG00639.hp2 others(72): Show |
intron_variant | MODIFIER | c.453+1827delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863499 | |||||||
| chr14:54863537 | A | G | 64 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(61): Show |
69 | HG00408.hp2 HG00423.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.453+1790T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863537 | |||||||
| chr14:54863538 | G | A | 64 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(61): Show |
69 | HG00408.hp2 HG00423.hp1 HG00639.hp2 others(66): Show |
intron_variant | MODIFIER | c.453+1789C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863538 | |||||||
| chr14:54863556 | T | C | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.453+1771A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863556 | |||||||
| chr14:54863571 | A | G | 2 | a0001c0001t0001g0124 a0001c0001t0001g0197 |
2 | NA18957.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.453+1756T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863571 | |||||||
| chr14:54863645 | C | T | 1 | a0001c0001t0005g0327 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.453+1682G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863645 | |||||||
| chr14:54863669 | C | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.453+1658G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863669 | |||||||
| chr14:54863756 | T | C | 3 | a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0032 |
3 | HG00639.hp2 HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.453+1571A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863756 | |||||||
| chr14:54863848 | G | GTTGT | 12 | a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0167 others(9): Show |
12 | HG00140.hp1 HG00323.hp2 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.453+1475_453+1478d others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863848 | |||||||
| chr14:54863848 | G | GTTGTTTG others(1): Show |
41 | a0001c0001t0001g0272 a0001c0001t0001g0298 a0001c0001t0002g0009 others(38): Show |
41 | HG00621.hp1 HG01168.hp1 HG01169.hp2 others(38): Show |
intron_variant | MODIFIER | c.453+1471_453+1478d others(10): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863848 | |||||||
| chr14:54863848 | G | GTTGTTTG others(5): Show |
47 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(44): Show |
52 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(49): Show |
intron_variant | MODIFIER | c.453+1467_453+1478d others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863848 | |||||||
| chr14:54863848 | G | GTTGTTTG others(9): Show |
1 | a0001c0001t0005g0332 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.453+1463_453+1478d others(18): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863848 | |||||||
| chr14:54863848 | G | GTTGTTTG others(13): Show |
2 | a0001c0001t0001g0250 a0001c0001t0001g0297 |
2 | NA18943.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.453+1459_453+1478d others(22): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863848 | |||||||
| chr14:54863983 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.453+1344G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54863983 | |||||||
| chr14:54864032 | T | C | 1 | a0001c0001t0001g0193 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.453+1295A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54864032 | |||||||
| chr14:54864084 | A | G | 1 | a0001c0001t0002g0181 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.453+1243T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54864084 | |||||||
| chr14:54864207 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.453+1120A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54864207 | |||||||
| chr14:54864532 | T | C | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.453+795A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54864532 | |||||||
| chr14:54864619 | C | T | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.453+708G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54864619 | |||||||
| chr14:54865042 | CA | C | 232 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(229): Show |
239 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
intron_variant | MODIFIER | c.453+284delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865042 | |||||||
| chr14:54865042 | CAA | C | 16 | a0001c0001t0001g0235 a0001c0001t0005g0325 a0001c0001t0005g0326 others(13): Show |
16 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.453+283_453+284del others(2): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865042 | |||||||
| chr14:54865054 | A | G | 64 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(61): Show |
65 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.453+273T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865054 | |||||||
| chr14:54865055 | AG | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.453+271delC | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865055 | |||||||
| chr14:54865179 | T | G | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.453+148A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865179 | |||||||
| chr14:54865237 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.453+90A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865237 | |||||||
| chr14:54865250 | A | G | 1 | a0001c0001t0002g0244 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.453+77T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865250 | |||||||
| chr14:54865254 | T | G | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.453+73A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865254 | |||||||
| chr14:54865274 | G | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.453+53C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 2/5 | chr14 | 54865274 | |||||||
| chr14:54865529 | G | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-93C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54865529 | |||||||
| chr14:54865544 | A | G | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-108T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54865544 | |||||||
| chr14:54866053 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.344-617T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866053 | |||||||
| chr14:54866081 | C | T | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-645G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866081 | |||||||
| chr14:54866105 | C | T | 1 | a0001c0001t0001g0139 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.344-669G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866105 | |||||||
| chr14:54866115 | TA | T | 9 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0193 others(6): Show |
9 | HG01168.hp2 HG01243.hp1 HG01891.hp1 others(6): Show |
intron_variant | MODIFIER | c.344-680delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866115 | |||||||
| chr14:54866296 | C | T | 2 | a0001c0001t0005g0335 a0001c0001t0005g0336 |
2 | HG02109.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.344-860G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866296 | |||||||
| chr14:54866310 | T | C | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.344-874A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866310 | |||||||
| chr14:54866445 | G | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-1009C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866445 | |||||||
| chr14:54866519 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-1083G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866519 | |||||||
| chr14:54866640 | G | A | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-1204C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866640 | |||||||
| chr14:54866784 | G | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-1348C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866784 | |||||||
| chr14:54866827 | G | C | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-1391C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54866827 | |||||||
| chr14:54867149 | G | A | 10 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(7): Show |
10 | HG00597.hp2 HG02523.hp2 NA18942.hp1 others(7): Show |
intron_variant | MODIFIER | c.344-1713C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867149 | |||||||
| chr14:54867171 | G | A | 1 | a0001c0001t0002g0089 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.344-1735C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867171 | |||||||
| chr14:54867220 | C | T | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.344-1784G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867220 | |||||||
| chr14:54867319 | G | A | 1 | a0001c0001t0002g0065 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.344-1883C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867319 | |||||||
| chr14:54867406 | G | A | 1 | a0001c0001t0023g0206 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.344-1970C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867406 | |||||||
| chr14:54867471 | C | T | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-2035G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867471 | |||||||
| chr14:54867513 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.344-2077C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867513 | |||||||
| chr14:54867589 | C | CA | 77 | a0001c0001t0001g0117 a0001c0001t0001g0127 a0001c0001t0001g0130 others(74): Show |
78 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.344-2154dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAA | 16 | a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0071 others(13): Show |
16 | HG00609.hp2 HG01069.hp2 HG01106.hp2 others(13): Show |
intron_variant | MODIFIER | c.344-2155_344-2154d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAA | 7 | a0001c0001t0001g0014 a0001c0001t0001g0074 a0001c0001t0001g0094 others(4): Show |
7 | HG01168.hp1 HG01516.hp2 HG02055.hp2 others(4): Show |
intron_variant | MODIFIER | c.344-2158_344-2154d others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAA | 55 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0182 others(52): Show |
60 | HG00408.hp2 HG00621.hp1 HG00642.hp2 others(57): Show |
intron_variant | MODIFIER | c.344-2159_344-2154d others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAAA | 23 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0113 others(20): Show |
23 | HG00423.hp1 HG00673.hp2 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.344-2160_344-2154d others(9): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAAA others(3): Show |
2 | a0001c0001t0004g0026 a0001c0001t0004g0032 |
2 | HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.344-2163_344-2154d others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAAA others(4): Show |
1 | a0001c0001t0007g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.344-2164_344-2154d others(13): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAAA others(5): Show |
2 | a0001c0001t0007g0278 a0001c0001t0007g0280 |
2 | HG03490.hp2 HG03704.hp2 |
intron_variant | MODIFIER | c.344-2165_344-2154d others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAAA others(6): Show |
2 | a0001c0001t0007g0276 a0001c0001t0007g0279 |
2 | HG03492.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.344-2166_344-2154d others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54867589 | C | CAAAAAAA others(7): Show |
1 | a0001c0001t0007g0277 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.344-2167_344-2154d others(16): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54867589 | |||||||
| chr14:54868344 | C | G | 183 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(180): Show |
189 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.344-2908G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868344 | |||||||
| chr14:54868440 | A | T | 3 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 |
3 | HG01081.hp2 HG01106.hp2 HG01169.hp1 |
intron_variant | MODIFIER | c.344-3004T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868440 | |||||||
| chr14:54868454 | A | G | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-3018T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868454 | |||||||
| chr14:54868546 | G | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-3110C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868546 | |||||||
| chr14:54868558 | A | C | 1 | a0001c0001t0001g0144 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.344-3122T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868558 | |||||||
| chr14:54868671 | G | A | 70 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(67): Show |
71 | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(68): Show |
intron_variant | MODIFIER | c.344-3235C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868671 | |||||||
| chr14:54868750 | T | C | 183 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(180): Show |
189 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.344-3314A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868750 | |||||||
| chr14:54868852 | A | G | 318 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(315): Show |
326 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(323): Show |
intron_variant | MODIFIER | c.344-3416T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868852 | |||||||
| chr14:54868875 | T | C | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-3439A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868875 | |||||||
| chr14:54868880 | G | A | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-3444C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54868880 | |||||||
| chr14:54869029 | A | G | 109 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(106): Show |
114 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(111): Show |
intron_variant | MODIFIER | c.344-3593T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869029 | |||||||
| chr14:54869132 | G | A | 5 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0010g0248 others(2): Show |
5 | HG01891.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-3696C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869132 | |||||||
| chr14:54869151 | G | A | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.344-3715C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869151 | |||||||
| chr14:54869154 | T | A | 1 | a0001c0001t0002g0088 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.344-3718A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869154 | |||||||
| chr14:54869336 | G | A | 1 | a0001c0001t0002g0057 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.344-3900C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869336 | |||||||
| chr14:54869503 | G | A | 1 | a0001c0001t0001g0123 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.344-4067C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869503 | |||||||
| chr14:54869546 | T | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.344-4110A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869546 | |||||||
| chr14:54869559 | C | T | 60 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(57): Show |
65 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.344-4123G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869559 | |||||||
| chr14:54869641 | C | T | 94 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(91): Show |
99 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.344-4205G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869641 | |||||||
| chr14:54869642 | A | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(91): Show |
99 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.344-4206T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869642 | |||||||
| chr14:54869707 | C | T | 16 | a0001c0001t0002g0063 a0001c0001t0005g0325 a0001c0001t0005g0326 others(13): Show |
16 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.344-4271G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869707 | |||||||
| chr14:54869720 | C | T | 182 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(179): Show |
188 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.344-4284G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869720 | |||||||
| chr14:54869739 | C | G | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-4303G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54869739 | |||||||
| chr14:54870033 | A | G | 182 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(179): Show |
188 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.344-4597T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870033 | |||||||
| chr14:54870157 | G | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-4721C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870157 | |||||||
| chr14:54870226 | G | A | 1 | a0001c0001t0001g0285 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.344-4790C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870226 | |||||||
| chr14:54870245 | T | C | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-4809A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870245 | |||||||
| chr14:54870307 | G | A | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-4871C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870307 | |||||||
| chr14:54870317 | G | A | 1 | a0001c0001t0001g0074 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.344-4881C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870317 | |||||||
| chr14:54870335 | C | CA | 20 | a0001c0001t0001g0101 a0001c0001t0001g0106 a0001c0001t0001g0115 others(17): Show |
20 | HG00423.hp2 HG01099.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.344-4900dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870335 | |||||||
| chr14:54870335 | C | CAAAAAAA others(17): Show |
1 | a0001c0001t0008g0233 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.344-4923_344-4900d others(26): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870335 | |||||||
| chr14:54870335 | CA | C | 69 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(66): Show |
74 | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(71): Show |
intron_variant | MODIFIER | c.344-4900delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870335 | |||||||
| chr14:54870335 | CAA | C | 96 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0056 others(93): Show |
97 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(94): Show |
intron_variant | MODIFIER | c.344-4901_344-4900d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870335 | |||||||
| chr14:54870335 | CAAA | C | 16 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(13): Show |
16 | HG00323.hp2 HG01070.hp1 HG01255.hp1 others(13): Show |
intron_variant | MODIFIER | c.344-4902_344-4900d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870335 | |||||||
| chr14:54870335 | CAAAAAAA others(8): Show |
C | 1 | a0001c0001t0001g0205 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.344-4914_344-4900d others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870335 | |||||||
| chr14:54870386 | G | A | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-4950C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870386 | |||||||
| chr14:54870411 | C | T | 60 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(57): Show |
65 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.344-4975G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870411 | |||||||
| chr14:54870488 | T | G | 2 | a0001c0001t0001g0153 a0001c0001t0001g0154 |
2 | NA18957.hp2 NA18984.hp1 |
intron_variant | MODIFIER | c.344-5052A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870488 | |||||||
| chr14:54870539 | G | C | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-5103C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870539 | |||||||
| chr14:54870610 | G | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-5174C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870610 | |||||||
| chr14:54870617 | G | C | 4 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(1): Show |
4 | HG00099.hp1 HG01074.hp2 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-5181C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870617 | |||||||
| chr14:54870717 | G | A | 1 | a0001c0001t0002g0042 | 1 | NA18959.hp1 | intron_variant | MODIFIER | c.344-5281C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870717 | |||||||
| chr14:54870790 | G | C | 2 | a0001c0001t0001g0160 a0001c0001t0001g0236 |
2 | NA19066.hp1 NA19088.hp1 |
intron_variant | MODIFIER | c.344-5354C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870790 | |||||||
| chr14:54870809 | C | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-5373G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870809 | |||||||
| chr14:54870903 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.344-5467C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870903 | |||||||
| chr14:54870935 | G | A | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-5499C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870935 | |||||||
| chr14:54870955 | T | C | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-5519A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54870955 | |||||||
| chr14:54871068 | C | A | 4 | a0001c0001t0005g0326 a0001c0001t0005g0329 a0001c0001t0005g0330 others(1): Show |
4 | HG01081.hp1 HG02965.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.344-5632G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871068 | |||||||
| chr14:54871129 | G | A | 1 | a0001c0001t0005g0332 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.344-5693C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871129 | |||||||
| chr14:54871151 | T | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(91): Show |
99 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.344-5715A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871151 | |||||||
| chr14:54871198 | A | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-5762T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871198 | |||||||
| chr14:54871221 | A | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-5785T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871221 | |||||||
| chr14:54871273 | C | T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-5837G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871273 | |||||||
| chr14:54871538 | A | G | 63 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(60): Show |
64 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.344-6102T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871538 | |||||||
| chr14:54871562 | G | T | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-6126C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871562 | |||||||
| chr14:54871582 | A | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-6146T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871582 | |||||||
| chr14:54871603 | A | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-6167T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871603 | |||||||
| chr14:54871622 | C | T | 72 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(69): Show |
73 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.344-6186G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871622 | |||||||
| chr14:54871682 | G | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-6246C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871682 | |||||||
| chr14:54871866 | T | C | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-6430A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871866 | |||||||
| chr14:54871889 | A | G | 1 | a0001c0001t0003g0314 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.344-6453T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871889 | |||||||
| chr14:54871932 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-6496G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871932 | |||||||
| chr14:54871972 | A | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-6536T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871972 | |||||||
| chr14:54871997 | T | C | 1 | a0001c0001t0002g0089 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.344-6561A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54871997 | |||||||
| chr14:54872067 | G | A | 70 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(67): Show |
75 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.344-6631C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872067 | |||||||
| chr14:54872068 | A | T | 70 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(67): Show |
75 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.344-6632T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872068 | |||||||
| chr14:54872222 | C | T | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.344-6786G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872222 | |||||||
| chr14:54872298 | G | A | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-6862C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872298 | |||||||
| chr14:54872372 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.344-6936C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872372 | |||||||
| chr14:54872380 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.344-6944G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872380 | |||||||
| chr14:54872414 | T | C | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-6978A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872414 | |||||||
| chr14:54872415 | G | A | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-6979C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872415 | |||||||
| chr14:54872426 | A | G | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-6990T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872426 | |||||||
| chr14:54872609 | C | T | 72 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(69): Show |
73 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.344-7173G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872609 | |||||||
| chr14:54872618 | A | C | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-7182T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872618 | |||||||
| chr14:54872823 | C | A | 1 | a0001c0001t0001g0130 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.344-7387G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872823 | |||||||
| chr14:54872871 | C | T | 1 | a0001c0001t0004g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.344-7435G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872871 | |||||||
| chr14:54872892 | A | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-7456T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872892 | |||||||
| chr14:54872936 | C | T | 2 | a0001c0001t0021g0013 a0001c0001t0027g0338 |
2 | HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.344-7500G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872936 | |||||||
| chr14:54872983 | T | A | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-7547A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872983 | |||||||
| chr14:54872984 | A | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-7548T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54872984 | |||||||
| chr14:54873000 | G | A | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-7564C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873000 | |||||||
| chr14:54873001 | A | G | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-7565T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873001 | |||||||
| chr14:54873053 | C | A | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-7617G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873053 | |||||||
| chr14:54873090 | G | A | 3 | a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0231 |
3 | HG02523.hp1 NA18947.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.344-7654C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873090 | |||||||
| chr14:54873095 | T | G | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-7659A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873095 | |||||||
| chr14:54873268 | T | C | 1 | a0001c0001t0005g0328 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.344-7832A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873268 | |||||||
| chr14:54873272 | C | A | 1 | a0001c0001t0005g0328 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.344-7836G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873272 | |||||||
| chr14:54873456 | T | C | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-8020A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873456 | |||||||
| chr14:54873529 | G | C | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-8093C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873529 | |||||||
| chr14:54873534 | C | CA | 66 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(63): Show |
67 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(64): Show |
intron_variant | MODIFIER | c.344-8099dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873534 | |||||||
| chr14:54873541 | T | A | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-8105A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873541 | |||||||
| chr14:54873542 | C | T | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-8106G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873542 | |||||||
| chr14:54873543 | A | C | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-8107T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873543 | |||||||
| chr14:54873593 | G | A | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-8157C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873593 | |||||||
| chr14:54873767 | C | T | 1 | a0001c0001t0001g0285 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.344-8331G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873767 | |||||||
| chr14:54873792 | G | A | 17 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(14): Show |
17 | HG01081.hp1 HG01243.hp2 HG01433.hp1 others(14): Show |
intron_variant | MODIFIER | c.344-8356C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873792 | |||||||
| chr14:54873856 | G | C | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-8420C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873856 | |||||||
| chr14:54873884 | G | A | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-8448C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873884 | |||||||
| chr14:54873885 | A | G | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-8449T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873885 | |||||||
| chr14:54873886 | T | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-8450A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873886 | |||||||
| chr14:54873899 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.344-8463C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873899 | |||||||
| chr14:54873912 | C | G | 1 | a0001c0001t0001g0134 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.344-8476G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873912 | |||||||
| chr14:54873913 | A | G | 1 | a0001c0001t0001g0134 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.344-8477T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873913 | |||||||
| chr14:54873916 | T | C | 1 | a0001c0001t0001g0134 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.344-8480A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873916 | |||||||
| chr14:54873929 | G | T | 1 | a0001c0001t0001g0134 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.344-8493C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873929 | |||||||
| chr14:54873962 | G | C | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.344-8526C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873962 | |||||||
| chr14:54873974 | A | C | 2 | a0001c0001t0004g0050 a0001c0001t0022g0030 |
2 | HG02135.hp2 HG03669.hp2 |
intron_variant | MODIFIER | c.344-8538T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54873974 | |||||||
| chr14:54874001 | A | C | 2 | a0001c0001t0001g0120 a0001c0001t0001g0146 |
2 | HG01099.hp2 HG03017.hp1 |
intron_variant | MODIFIER | c.344-8565T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874001 | |||||||
| chr14:54874022 | T | C | 183 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(180): Show |
189 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.344-8586A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874022 | |||||||
| chr14:54874123 | C | G | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-8687G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874123 | |||||||
| chr14:54874138 | G | A | 183 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(180): Show |
189 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.344-8702C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874138 | |||||||
| chr14:54874379 | C | T | 1 | a0001c0001t0001g0199 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.344-8943G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874379 | |||||||
| chr14:54874476 | C | T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-9040G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874476 | |||||||
| chr14:54874498 | T | A | 3 | a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0001g0147 |
3 | HG01070.hp2 HG01346.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.344-9062A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874498 | |||||||
| chr14:54874577 | T | G | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-9141A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874577 | |||||||
| chr14:54874597 | T | A | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.344-9161A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874597 | |||||||
| chr14:54874597 | T | C | 1 | a0001c0001t0001g0130 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.344-9161A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874597 | |||||||
| chr14:54874965 | A | G | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-9529T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54874965 | |||||||
| chr14:54875002 | A | C | 109 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(106): Show |
114 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(111): Show |
intron_variant | MODIFIER | c.344-9566T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875002 | |||||||
| chr14:54875005 | G | A | 1 | a0001c0001t0001g0164 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.344-9569C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875005 | |||||||
| chr14:54875049 | A | G | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.344-9613T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875049 | |||||||
| chr14:54875091 | A | C | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-9655T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875091 | |||||||
| chr14:54875185 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-9749G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875185 | |||||||
| chr14:54875200 | C | A | 3 | a0001c0001t0004g0028 a0001c0001t0004g0050 a0001c0001t0022g0030 |
3 | HG02135.hp2 HG03669.hp2 HG03942.hp2 |
intron_variant | MODIFIER | c.344-9764G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875200 | |||||||
| chr14:54875318 | T | C | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-9882A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875318 | |||||||
| chr14:54875324 | A | C | 10 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(7): Show |
10 | HG00323.hp2 HG01496.hp1 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.344-9888T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875324 | |||||||
| chr14:54875359 | C | T | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-9923G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875359 | |||||||
| chr14:54875386 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.344-9950C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875386 | |||||||
| chr14:54875443 | T | C | 182 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(179): Show |
188 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.344-10007A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875443 | |||||||
| chr14:54875717 | C | A | 1 | a0001c0001t0001g0205 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.344-10281G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875717 | |||||||
| chr14:54875749 | C | T | 1 | a0001c0001t0001g0231 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.344-10313G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875749 | |||||||
| chr14:54875754 | C | G | 1 | a0001c0001t0002g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.344-10318G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875754 | |||||||
| chr14:54875800 | C | T | 2 | a0001c0001t0001g0134 a0001c0001t0003g0306 |
2 | HG02683.hp2 HG03688.hp2 |
intron_variant | MODIFIER | c.344-10364G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875800 | |||||||
| chr14:54875874 | C | T | 1 | a0001c0001t0001g0231 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.344-10438G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54875874 | |||||||
| chr14:54876118 | T | C | 1 | a0001c0001t0023g0206 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.344-10682A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876118 | |||||||
| chr14:54876231 | G | C | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-10795C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876231 | |||||||
| chr14:54876232 | C | G | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-10796G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876232 | |||||||
| chr14:54876241 | G | A | 2 | a0001c0001t0002g0171 a0001c0001t0002g0174 |
2 | NA18964.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.344-10805C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876241 | |||||||
| chr14:54876243 | A | C | 1 | a0001c0001t0001g0274 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.344-10807T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876243 | |||||||
| chr14:54876259 | G | A | 3 | a0001c0001t0005g0326 a0001c0001t0005g0329 a0001c0001t0005g0330 |
3 | HG01081.hp1 HG02965.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.344-10823C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876259 | |||||||
| chr14:54876262 | T | G | 3 | a0001c0001t0001g0132 a0001c0001t0001g0201 a0001c0001t0001g0215 |
3 | HG02451.hp1 HG03209.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.344-10826A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876262 | |||||||
| chr14:54876348 | G | A | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.344-10912C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876348 | |||||||
| chr14:54876349 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-10913G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876349 | |||||||
| chr14:54876375 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.344-10939C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876375 | |||||||
| chr14:54876389 | G | A | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-10953C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876389 | |||||||
| chr14:54876468 | T | A | 1 | a0001c0001t0002g0052 | 1 | NA19055.hp2 | intron_variant | MODIFIER | c.344-11032A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876468 | |||||||
| chr14:54876495 | T | TA | 71 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(68): Show |
72 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(69): Show |
intron_variant | MODIFIER | c.344-11060dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876495 | |||||||
| chr14:54876509 | T | G | 1 | a0001c0001t0001g0054 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.344-11073A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876509 | |||||||
| chr14:54876626 | T | G | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-11190A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876626 | |||||||
| chr14:54876656 | C | T | 2 | a0001c0001t0014g0184 a0001c0001t0014g0191 |
2 | HG00423.hp1 HG02015.hp2 |
intron_variant | MODIFIER | c.344-11220G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876656 | |||||||
| chr14:54876661 | C | T | 3 | a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0241 |
3 | NA18970.hp1 NA18990.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.344-11225G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876661 | |||||||
| chr14:54876763 | T | C | 3 | a0001c0001t0001g0132 a0001c0001t0001g0201 a0001c0001t0001g0215 |
3 | HG02451.hp1 HG03209.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.344-11327A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876763 | |||||||
| chr14:54876790 | A | C | 1 | a0001c0001t0001g0274 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.344-11354T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876790 | |||||||
| chr14:54876981 | G | A | 3 | a0001c0001t0005g0326 a0001c0001t0005g0329 a0001c0001t0005g0330 |
3 | HG01081.hp1 HG02965.hp2 HG02970.hp2 |
intron_variant | MODIFIER | c.344-11545C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54876981 | |||||||
| chr14:54877012 | A | G | 1 | a0001c0001t0008g0233 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.344-11576T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877012 | |||||||
| chr14:54877161 | T | C | 60 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(57): Show |
65 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(62): Show |
intron_variant | MODIFIER | c.344-11725A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877161 | |||||||
| chr14:54877272 | C | A | 1 | a0001c0001t0002g0019 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.344-11836G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877272 | |||||||
| chr14:54877273 | G | A | 3 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 |
3 | HG02630.hp2 HG03453.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.344-11837C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877273 | |||||||
| chr14:54877297 | T | C | 100 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(97): Show |
105 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(102): Show |
intron_variant | MODIFIER | c.344-11861A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877297 | |||||||
| chr14:54877329 | TACA | T | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-11896_344-1189 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877329 | |||||||
| chr14:54877396 | T | C | 1 | a0001c0001t0001g0138 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.344-11960A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877396 | |||||||
| chr14:54877578 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.344-12142G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877578 | |||||||
| chr14:54877653 | C | T | 1 | a0001c0001t0021g0013 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.344-12217G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877653 | |||||||
| chr14:54877884 | C | T | 1 | a0001c0001t0001g0223 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.344-12448G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877884 | |||||||
| chr14:54877984 | C | T | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-12548G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54877984 | |||||||
| chr14:54878061 | T | C | 1 | a0001c0001t0011g0282 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.344-12625A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878061 | |||||||
| chr14:54878087 | C | T | 1 | a0001c0001t0004g0029 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.344-12651G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878087 | |||||||
| chr14:54878183 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-12747G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878183 | |||||||
| chr14:54878195 | T | C | 1 | a0001c0001t0001g0183 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.344-12759A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878195 | |||||||
| chr14:54878274 | G | A | 1 | a0001c0001t0001g0232 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.344-12838C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878274 | |||||||
| chr14:54878297 | T | C | 1 | a0001c0001t0011g0283 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.344-12861A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878297 | |||||||
| chr14:54878465 | T | C | 3 | a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0012g0324 |
3 | HG02258.hp1 HG02922.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.344-13029A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878465 | |||||||
| chr14:54878522 | TC | T | 5 | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0177 others(2): Show |
6 | NA18971.hp1 NA18986.hp1 NA18991.hp1 others(3): Show |
intron_variant | MODIFIER | c.344-13087delG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878522 | |||||||
| chr14:54878961 | T | C | 3 | a0001c0001t0004g0026 a0001c0001t0004g0031 a0001c0001t0004g0032 |
3 | HG00639.hp2 HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.344-13525A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878961 | |||||||
| chr14:54878980 | T | C | 4 | a0001c0001t0005g0326 a0001c0001t0005g0329 a0001c0001t0005g0330 others(1): Show |
4 | HG01081.hp1 HG02965.hp2 HG02970.hp2 others(1): Show |
intron_variant | MODIFIER | c.344-13544A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54878980 | |||||||
| chr14:54879142 | T | C | 1 | a0001c0001t0008g0288 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.344-13706A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879142 | |||||||
| chr14:54879149 | A | G | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.344-13713T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879149 | |||||||
| chr14:54879240 | G | A | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.344-13804C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879240 | |||||||
| chr14:54879352 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-13916G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879352 | |||||||
| chr14:54879411 | T | G | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-13975A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879411 | |||||||
| chr14:54879420 | C | CA | 36 | a0001c0001t0001g0014 a0001c0001t0001g0056 a0001c0001t0001g0141 others(33): Show |
36 | HG00438.hp1 HG00639.hp1 HG00738.hp2 others(33): Show |
intron_variant | MODIFIER | c.344-13985dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879420 | |||||||
| chr14:54879420 | CA | C | 77 | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0021 others(74): Show |
78 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(75): Show |
intron_variant | MODIFIER | c.344-13985delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879420 | |||||||
| chr14:54879420 | CAAAAA | C | 8 | a0001c0001t0001g0183 a0001c0001t0001g0292 a0001c0001t0002g0245 others(5): Show |
8 | HG00738.hp1 HG02896.hp1 HG02897.hp1 others(5): Show |
intron_variant | MODIFIER | c.344-13989_344-1398 others(9): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879420 | |||||||
| chr14:54879420 | CAAAAAA | C | 55 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0094 others(52): Show |
60 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(57): Show |
intron_variant | MODIFIER | c.344-13990_344-1398 others(10): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879420 | |||||||
| chr14:54879420 | CAAAAAAA | C | 36 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(33): Show |
36 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.344-13991_344-1398 others(11): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879420 | |||||||
| chr14:54879555 | C | G | 183 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(180): Show |
189 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(186): Show |
intron_variant | MODIFIER | c.344-14119G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879555 | |||||||
| chr14:54879655 | A | G | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-14219T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879655 | |||||||
| chr14:54879670 | G | A | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.344-14234C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879670 | |||||||
| chr14:54879760 | G | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-14324C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879760 | |||||||
| chr14:54879785 | G | C | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-14349C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879785 | |||||||
| chr14:54879953 | C | A | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-14517G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879953 | |||||||
| chr14:54879984 | CA | C | 192 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(189): Show |
195 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
intron_variant | MODIFIER | c.344-14549delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879984 | |||||||
| chr14:54879984 | CAA | C | 8 | a0001c0001t0001g0108 a0001c0001t0001g0127 a0001c0001t0001g0176 others(5): Show |
8 | HG01070.hp2 HG02738.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.344-14550_344-1454 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879984 | |||||||
| chr14:54879984 | CAAA | C | 11 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(8): Show |
11 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(8): Show |
intron_variant | MODIFIER | c.344-14551_344-1454 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879984 | |||||||
| chr14:54879984 | CAAAA | C | 11 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0183 others(8): Show |
11 | HG00423.hp1 HG00621.hp1 HG01243.hp2 others(8): Show |
intron_variant | MODIFIER | c.344-14552_344-1454 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879984 | |||||||
| chr14:54879984 | CAAAAA | C | 80 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(77): Show |
85 | HG00408.hp2 HG00597.hp2 HG00642.hp2 others(82): Show |
intron_variant | MODIFIER | c.344-14553_344-1454 others(9): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54879984 | |||||||
| chr14:54880003 | A | C | 10 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(7): Show |
10 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(7): Show |
intron_variant | MODIFIER | c.344-14567T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880003 | |||||||
| chr14:54880004 | A | C | 2 | a0001c0001t0001g0211 a0001c0001t0001g0234 |
2 | HG02145.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.344-14568T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880004 | |||||||
| chr14:54880055 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-14619G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880055 | |||||||
| chr14:54880072 | C | T | 7 | a0001c0001t0003g0309 a0001c0001t0007g0275 a0001c0001t0007g0276 others(4): Show |
7 | HG00323.hp2 HG02738.hp1 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.344-14636G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880072 | |||||||
| chr14:54880140 | C | CA | 111 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(108): Show |
116 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(113): Show |
intron_variant | MODIFIER | c.344-14705dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880140 | |||||||
| chr14:54880191 | T | A | 1 | a0001c0001t0005g0327 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.344-14755A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880191 | |||||||
| chr14:54880249 | T | G | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.344-14813A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880249 | |||||||
| chr14:54880431 | CAT | C | 49 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0122 others(46): Show |
49 | HG00099.hp2 HG00323.hp2 HG00621.hp1 others(46): Show |
intron_variant | MODIFIER | c.344-14997_344-1499 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880431 | |||||||
| chr14:54880431 | CATATATA others(48): Show |
C | 4 | a0001c0001t0004g0026 a0001c0001t0004g0028 a0001c0001t0004g0032 others(1): Show |
4 | HG03209.hp1 HG03669.hp2 HG03942.hp2 others(1): Show |
intron_variant | MODIFIER | c.344-15050_344-1499 others(59): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880431 | |||||||
| chr14:54880435 | TATATATA others(12): Show |
T | 1 | a0001c0001t0002g0238 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.344-15018_344-1500 others(23): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880435 | |||||||
| chr14:54880441 | TATACTCC others(31): Show |
T | 53 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(50): Show |
58 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(55): Show |
intron_variant | MODIFIER | c.344-15043_344-1500 others(42): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880441 | |||||||
| chr14:54880448 | CATATAAA others(67): Show |
C | 1 | a0001c0001t0004g0050 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.344-15086_344-1501 others(78): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880448 | |||||||
| chr14:54880454 | A | T | 40 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(37): Show |
40 | HG00621.hp1 HG00639.hp2 HG00673.hp2 others(37): Show |
intron_variant | MODIFIER | c.344-15018T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880454 | |||||||
| chr14:54880460 | T | C | 6 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
6 | HG01884.hp2 HG02055.hp2 HG02970.hp1 others(3): Show |
intron_variant | MODIFIER | c.344-15024A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880460 | |||||||
| chr14:54880465 | CAT | C | 39 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0180 others(36): Show |
39 | HG00323.hp2 HG00621.hp1 HG00639.hp2 others(36): Show |
intron_variant | MODIFIER | c.344-15031_344-1503 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880465 | |||||||
| chr14:54880469 | T | TATATATA others(4): Show |
3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.344-15034_344-1503 others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880469 | |||||||
| chr14:54880471 | TATATATA others(1): Show |
T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-15043_344-1503 others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880471 | |||||||
| chr14:54880479 | C | T | 4 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15043G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880479 | |||||||
| chr14:54880484 | C | CAT | 63 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(60): Show |
64 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.344-15050_344-1504 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880484 | |||||||
| chr14:54880484 | CAT | C | 3 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0020g0105 |
3 | HG01891.hp1 NA18998.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.344-15050_344-1504 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880484 | |||||||
| chr14:54880484 | CATATAT | C | 16 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(13): Show |
16 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(13): Show |
intron_variant | MODIFIER | c.344-15054_344-1504 others(10): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880484 | |||||||
| chr14:54880484 | CATATATA others(12): Show |
C | 1 | a0001c0001t0003g0314 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.344-15067_344-1504 others(23): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880484 | |||||||
| chr14:54880486 | TATATATA others(8): Show |
T | 1 | a0001c0001t0002g0043 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.344-15065_344-1505 others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880486 | |||||||
| chr14:54880486 | TATATATA others(61): Show |
T | 4 | a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0001t0004g0031 others(1): Show |
4 | HG00639.hp2 HG03195.hp1 NA18948.hp2 others(1): Show |
intron_variant | MODIFIER | c.344-15118_344-1505 others(72): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880486 | |||||||
| chr14:54880486 | TATATATA others(76): Show |
T | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.344-15133_344-1505 others(87): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880486 | |||||||
| chr14:54880488 | TATATATA others(6): Show |
T | 1 | a0001c0001t0002g0079 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.344-15065_344-1505 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880488 | |||||||
| chr14:54880490 | T | A | 1 | a0001c0001t0002g0065 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.344-15054A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880490 | |||||||
| chr14:54880496 | T | C | 1 | a0001c0001t0002g0242 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.344-15060A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880496 | |||||||
| chr14:54880501 | CAT | C | 3 | a0001c0001t0001g0165 a0001c0001t0004g0020 a0001c0001t0010g0270 |
3 | HG03041.hp1 HG03195.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.344-15067_344-1506 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880501 | |||||||
| chr14:54880503 | T | TATATATA others(23): Show |
2 | a0001c0001t0010g0248 a0001c0001t0010g0249 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.344-15068_344-1506 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880503 | |||||||
| chr14:54880503 | TATATATA others(59): Show |
T | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-15133_344-1506 others(70): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880503 | |||||||
| chr14:54880513 | T | C | 54 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(51): Show |
59 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(56): Show |
intron_variant | MODIFIER | c.344-15077A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880513 | |||||||
| chr14:54880518 | CAT | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(148): Show |
157 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(154): Show |
intron_variant | MODIFIER | c.344-15084_344-1508 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880518 | |||||||
| chr14:54880518 | CATAT | C | 13 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(10): Show |
13 | HG00621.hp1 HG00738.hp2 HG01496.hp2 others(10): Show |
intron_variant | MODIFIER | c.344-15086_344-1508 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880518 | |||||||
| chr14:54880520 | T | TATATATA others(8): Show |
1 | a0001c0001t0006g0265 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.344-15085_344-1508 others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880520 | |||||||
| chr14:54880520 | TATATATA others(42): Show |
T | 13 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0328 others(10): Show |
13 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.344-15133_344-1508 others(53): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880520 | |||||||
| chr14:54880522 | T | TATATATA others(6): Show |
1 | a0001c0001t0010g0270 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.344-15087_344-1508 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880522 | |||||||
| chr14:54880532 | T | C | 7 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(4): Show |
7 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(4): Show |
intron_variant | MODIFIER | c.344-15096A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880532 | |||||||
| chr14:54880537 | C | CAT | 9 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(6): Show |
9 | HG01243.hp1 HG01496.hp1 HG02257.hp1 others(6): Show |
intron_variant | MODIFIER | c.344-15103_344-1510 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880537 | |||||||
| chr14:54880537 | CAT | C | 6 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0127 others(3): Show |
6 | HG01891.hp1 HG02723.hp2 HG02738.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-15103_344-1510 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880537 | |||||||
| chr14:54880539 | TATATATA others(8): Show |
T | 1 | a0001c0001t0002g0065 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.344-15118_344-1510 others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880539 | |||||||
| chr14:54880539 | TATATATA others(38): Show |
T | 2 | a0001c0001t0001g0250 a0001c0001t0002g0257 |
2 | NA18943.hp2 NA18952.hp2 |
intron_variant | MODIFIER | c.344-15148_344-1510 others(49): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880539 | |||||||
| chr14:54880539 | TATATATA others(53): Show |
T | 66 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(63): Show |
67 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(64): Show |
intron_variant | MODIFIER | c.344-15163_344-1510 others(64): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880539 | |||||||
| chr14:54880541 | TATATATA others(6): Show |
T | 2 | a0001c0001t0007g0278 a0001c0001t0007g0279 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.344-15118_344-1510 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880541 | |||||||
| chr14:54880549 | T | C | 1 | a0001c0001t0004g0050 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.344-15113A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880549 | |||||||
| chr14:54880554 | C | CAT | 9 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0005g0327 others(6): Show |
9 | HG01243.hp2 HG01891.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.344-15120_344-1511 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880554 | |||||||
| chr14:54880554 | C | CATAT | 13 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(10): Show |
13 | HG00323.hp2 HG00738.hp2 HG01192.hp1 others(10): Show |
intron_variant | MODIFIER | c.344-15122_344-1511 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880554 | |||||||
| chr14:54880556 | TATATATA others(6): Show |
T | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-15133_344-1512 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880556 | |||||||
| chr14:54880556 | TATATATA others(36): Show |
T | 1 | a0001c0001t0002g0079 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.344-15163_344-1512 others(47): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880556 | |||||||
| chr14:54880558 | TATATATA others(4): Show |
T | 2 | a0001c0001t0002g0043 a0001c0001t0024g0095 |
2 | HG01243.hp1 NA19077.hp1 |
intron_variant | MODIFIER | c.344-15133_344-1512 others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880558 | |||||||
| chr14:54880564 | T | C | 1 | a0001c0001t0004g0031 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.344-15128A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880564 | |||||||
| chr14:54880564 | T | TAC | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02135.hp2 HG02257.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15130_344-1512 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880564 | |||||||
| chr14:54880569 | C | CAT | 85 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(82): Show |
90 | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(87): Show |
intron_variant | MODIFIER | c.344-15135_344-1513 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880569 | |||||||
| chr14:54880573 | TATATATA others(4): Show |
T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
5 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-15148_344-1513 others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880573 | |||||||
| chr14:54880579 | T | C | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.344-15143A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880579 | |||||||
| chr14:54880584 | C | CAT | 13 | a0001c0001t0001g0157 a0001c0001t0002g0242 a0001c0001t0004g0020 others(10): Show |
13 | HG00621.hp1 HG01243.hp1 HG01243.hp2 others(10): Show |
intron_variant | MODIFIER | c.344-15150_344-1514 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880584 | |||||||
| chr14:54880584 | C | CATAT | 3 | a0001c0001t0003g0305 a0001c0001t0010g0248 a0001c0001t0010g0249 |
3 | HG02896.hp1 HG02897.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.344-15152_344-1514 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880584 | |||||||
| chr14:54880586 | TATATATA others(38): Show |
T | 3 | a0001c0001t0001g0107 a0001c0001t0001g0216 a0001c0001t0001g0240 |
3 | HG03490.hp1 NA18990.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.344-15195_344-1515 others(49): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880586 | |||||||
| chr14:54880588 | TATATATA others(36): Show |
T | 1 | a0001c0001t0002g0065 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.344-15195_344-1515 others(47): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880588 | |||||||
| chr14:54880594 | T | C | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.344-15158A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880594 | |||||||
| chr14:54880599 | C | CAT | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.344-15165_344-1516 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880599 | |||||||
| chr14:54880599 | CAT | C | 22 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0101 others(19): Show |
22 | HG00738.hp2 HG01192.hp1 HG01243.hp2 others(19): Show |
intron_variant | MODIFIER | c.344-15165_344-1516 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880599 | |||||||
| chr14:54880601 | TATATATA others(8): Show |
T | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-15180_344-1516 others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880601 | |||||||
| chr14:54880616 | C | CAT | 62 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(59): Show |
67 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(64): Show |
intron_variant | MODIFIER | c.344-15182_344-1518 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880616 | |||||||
| chr14:54880618 | TATATATA others(6): Show |
T | 5 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0188 others(2): Show |
5 | HG02056.hp2 NA18948.hp1 NA18970.hp2 others(2): Show |
intron_variant | MODIFIER | c.344-15195_344-1518 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880618 | |||||||
| chr14:54880630 | CCATATAT others(2): Show |
C | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.344-15203_344-1519 others(13): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880630 | |||||||
| chr14:54880631 | C | CAT | 268 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(265): Show |
276 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(273): Show |
intron_variant | MODIFIER | c.344-15197_344-1519 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880631 | |||||||
| chr14:54880631 | C | CATAT | 3 | a0001c0001t0002g0023 a0001c0001t0007g0278 a0001c0001t0007g0279 |
3 | HG03453.hp2 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.344-15199_344-1519 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880631 | |||||||
| chr14:54880633 | TATATATA others(6): Show |
T | 4 | a0001c0001t0001g0208 a0001c0001t0002g0242 a0001c0001t0002g0247 others(1): Show |
4 | HG00621.hp1 HG02523.hp1 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15210_344-1519 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880633 | |||||||
| chr14:54880633 | TATATATA others(52): Show |
T | 1 | a0001c0001t0023g0206 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.344-15256_344-1519 others(63): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880633 | |||||||
| chr14:54880641 | TACTCC | T | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.344-15210_344-1520 others(9): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880641 | |||||||
| chr14:54880646 | C | CAT | 65 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(62): Show |
70 | HG00408.hp2 HG00423.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.344-15212_344-1521 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880646 | |||||||
| chr14:54880646 | C | CATAT | 4 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0021g0013 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15214_344-1521 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880646 | |||||||
| chr14:54880661 | CAT | C | 8 | a0001c0001t0001g0124 a0001c0001t0001g0197 a0001c0001t0007g0275 others(5): Show |
8 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(5): Show |
intron_variant | MODIFIER | c.344-15227_344-1522 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880661 | |||||||
| chr14:54880663 | TATATATA others(22): Show |
T | 116 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(113): Show |
118 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(115): Show |
intron_variant | MODIFIER | c.344-15256_344-1522 others(33): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880663 | |||||||
| chr14:54880678 | C | CAT | 6 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0004g0031 others(3): Show |
6 | HG00639.hp2 HG01891.hp1 HG02135.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-15244_344-1524 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880678 | |||||||
| chr14:54880678 | CATATATA others(38): Show |
C | 47 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(44): Show |
52 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(49): Show |
intron_variant | MODIFIER | c.344-15287_344-1524 others(49): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880678 | |||||||
| chr14:54880678 | CATATATA others(74): Show |
C | 3 | a0001c0001t0002g0247 a0001c0001t0002g0256 a0001c0001t0002g0258 |
3 | HG02056.hp1 NA18986.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.344-15323_344-1524 others(85): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880678 | |||||||
| chr14:54880680 | TATATATA others(5): Show |
T | 11 | a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 others(8): Show |
11 | HG02572.hp1 HG03195.hp1 HG03209.hp1 others(8): Show |
intron_variant | MODIFIER | c.344-15256_344-1524 others(16): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880680 | |||||||
| chr14:54880680 | TATATATA others(20): Show |
T | 1 | a0001c0001t0002g0043 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.344-15271_344-1524 others(31): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880680 | |||||||
| chr14:54880680 | TATATATA others(53): Show |
T | 11 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(8): Show |
11 | HG00642.hp2 HG01884.hp2 HG02055.hp2 others(8): Show |
intron_variant | MODIFIER | c.344-15304_344-1524 others(64): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880680 | |||||||
| chr14:54880680 | TATATATA others(87): Show |
T | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.344-15338_344-1524 others(98): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880680 | |||||||
| chr14:54880682 | TATATATA others(3): Show |
T | 4 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0013g0007 others(1): Show |
4 | HG01243.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15256_344-1524 others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880682 | |||||||
| chr14:54880682 | TATATATA others(18): Show |
T | 1 | a0001c0001t0021g0013 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.344-15271_344-1524 others(29): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880682 | |||||||
| chr14:54880690 | C | T | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.344-15254G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880690 | |||||||
| chr14:54880691 | T | A | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.344-15255A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880691 | |||||||
| chr14:54880691 | TCATATAT others(75): Show |
T | 13 | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 others(10): Show |
14 | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.344-15337_344-1525 others(86): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880691 | |||||||
| chr14:54880692 | C | CATAT | 3 | a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0197 |
3 | HG01346.hp2 NA18957.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.344-15260_344-1525 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880692 | |||||||
| chr14:54880692 | C | CCAT | 30 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(27): Show |
30 | HG00639.hp2 HG00738.hp2 HG00741.hp1 others(27): Show |
intron_variant | MODIFIER | c.344-15257_344-1525 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880692 | |||||||
| chr14:54880692 | CATA | C | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.344-15259_344-1525 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880692 | |||||||
| chr14:54880692 | CATATATA others(23): Show |
C | 1 | a0001c0001t0002g0090 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.344-15286_344-1525 others(34): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880692 | |||||||
| chr14:54880692 | CATATATA others(24): Show |
C | 62 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0001g0109 others(59): Show |
62 | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(59): Show |
intron_variant | MODIFIER | c.344-15287_344-1525 others(35): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880692 | |||||||
| chr14:54880694 | TATATATA others(20): Show |
T | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.344-15285_344-1525 others(31): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880694 | |||||||
| chr14:54880694 | TATATATA others(39): Show |
T | 5 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(2): Show |
5 | HG00323.hp2 HG01243.hp1 HG02738.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-15304_344-1525 others(50): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880694 | |||||||
| chr14:54880697 | A | C | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.344-15261T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880697 | |||||||
| chr14:54880698 | T | C | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.344-15262A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880698 | |||||||
| chr14:54880702 | TACTCC | T | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.344-15271_344-1526 others(9): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880702 | |||||||
| chr14:54880707 | C | CAT | 17 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(14): Show |
17 | HG00639.hp2 HG01243.hp2 HG02135.hp2 others(14): Show |
intron_variant | MODIFIER | c.344-15273_344-1527 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880707 | |||||||
| chr14:54880713 | T | C | 1 | a0001c0001t0001g0225 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.344-15277A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880713 | |||||||
| chr14:54880720 | T | TC | 4 | a0001c0001t0001g0124 a0001c0001t0001g0147 a0001c0001t0001g0197 others(1): Show |
4 | HG01346.hp2 NA18957.hp1 NA18964.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15285dupG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880720 | |||||||
| chr14:54880721 | CA | C | 39 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(36): Show |
39 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(36): Show |
intron_variant | MODIFIER | c.344-15286delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880721 | |||||||
| chr14:54880721 | CAT | C | 3 | a0001c0001t0002g0065 a0001c0001t0007g0278 a0001c0001t0007g0279 |
3 | HG01109.hp1 HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.344-15287_344-1528 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880721 | |||||||
| chr14:54880723 | T | C | 40 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(37): Show |
40 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(37): Show |
intron_variant | MODIFIER | c.344-15287A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880723 | |||||||
| chr14:54880735 | T | C | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.344-15299A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880735 | |||||||
| chr14:54880740 | C | CAT | 145 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(142): Show |
150 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(147): Show |
intron_variant | MODIFIER | c.344-15306_344-1530 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880740 | |||||||
| chr14:54880742 | TATATATA others(6): Show |
T | 2 | a0001c0001t0007g0278 a0001c0001t0007g0279 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.344-15319_344-1530 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880742 | |||||||
| chr14:54880755 | C | CAT | 20 | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0073 others(17): Show |
20 | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(17): Show |
intron_variant | MODIFIER | c.344-15321_344-1532 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880755 | |||||||
| chr14:54880755 | CAT | C | 36 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0208 others(33): Show |
36 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(33): Show |
intron_variant | MODIFIER | c.344-15321_344-1532 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880755 | |||||||
| chr14:54880755 | CATAT | C | 54 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(51): Show |
59 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(56): Show |
intron_variant | MODIFIER | c.344-15323_344-1532 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880755 | |||||||
| chr14:54880774 | C | CAT | 5 | a0001c0001t0003g0309 a0001c0001t0010g0248 a0001c0001t0010g0249 others(2): Show |
5 | HG01243.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-15340_344-1533 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880774 | |||||||
| chr14:54880774 | C | CATAT | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.344-15342_344-1533 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880774 | |||||||
| chr14:54880776 | TATATATA others(8): Show |
T | 2 | a0001c0001t0001g0124 a0001c0001t0001g0197 |
2 | NA18957.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.344-15355_344-1534 others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880776 | |||||||
| chr14:54880791 | C | CAT | 94 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(91): Show |
96 | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(93): Show |
intron_variant | MODIFIER | c.344-15357_344-1535 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880791 | |||||||
| chr14:54880791 | CAT | C | 31 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0002g0002 others(28): Show |
32 | HG00323.hp1 HG00323.hp2 HG00741.hp2 others(29): Show |
intron_variant | MODIFIER | c.344-15357_344-1535 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880791 | |||||||
| chr14:54880793 | TATATATA others(10): Show |
T | 55 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0019 others(52): Show |
55 | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(52): Show |
intron_variant | MODIFIER | c.344-15374_344-1535 others(21): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880793 | |||||||
| chr14:54880795 | TATATATA others(8): Show |
T | 1 | a0001c0001t0002g0091 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.344-15374_344-1536 others(19): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880795 | |||||||
| chr14:54880805 | T | TAC | 91 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(88): Show |
96 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(93): Show |
intron_variant | MODIFIER | c.344-15371_344-1537 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880805 | |||||||
| chr14:54880810 | C | CAT | 13 | a0001c0001t0002g0002 a0001c0001t0002g0036 a0001c0001t0002g0037 others(10): Show |
14 | HG00323.hp1 HG00741.hp2 HG01069.hp1 others(11): Show |
intron_variant | MODIFIER | c.344-15376_344-1537 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880810 | |||||||
| chr14:54880810 | CAT | C | 3 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0195 |
3 | HG01891.hp1 NA19030.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.344-15376_344-1537 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880810 | |||||||
| chr14:54880818 | TATATATA others(6): Show |
T | 66 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(63): Show |
71 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(68): Show |
intron_variant | MODIFIER | c.344-15395_344-1538 others(17): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880818 | |||||||
| chr14:54880820 | TATATATA others(4): Show |
T | 22 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(19): Show |
22 | HG00639.hp2 HG01081.hp1 HG01433.hp1 others(19): Show |
intron_variant | MODIFIER | c.344-15395_344-1538 others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880820 | |||||||
| chr14:54880826 | T | C | 9 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0006g0260 others(6): Show |
9 | HG00140.hp2 HG01891.hp1 HG02895.hp1 others(6): Show |
intron_variant | MODIFIER | c.344-15390A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880826 | |||||||
| chr14:54880831 | C | CAT | 8 | a0001c0001t0001g0087 a0001c0001t0001g0104 a0001c0001t0001g0161 others(5): Show |
8 | HG01975.hp2 HG01978.hp1 HG01978.hp2 others(5): Show |
intron_variant | MODIFIER | c.344-15397_344-1539 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880831 | |||||||
| chr14:54880831 | C | CATATATA others(1): Show |
6 | a0001c0001t0008g0210 a0001c0001t0010g0248 a0001c0001t0010g0249 others(3): Show |
6 | HG02895.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
intron_variant | MODIFIER | c.344-15403_344-1539 others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880831 | |||||||
| chr14:54880834 | A | C | 1 | a0001c0001t0004g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.344-15398T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880834 | |||||||
| chr14:54880839 | TATATACT others(17): Show |
T | 1 | a0001c0001t0005g0327 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.344-15427_344-1540 others(28): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880839 | |||||||
| chr14:54880848 | C | CAT | 83 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(80): Show |
84 | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(81): Show |
intron_variant | MODIFIER | c.344-15414_344-1541 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880848 | |||||||
| chr14:54880856 | TATACTCC | T | 96 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(93): Show |
101 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(98): Show |
intron_variant | MODIFIER | c.344-15427_344-1542 others(11): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880856 | |||||||
| chr14:54880874 | G | A | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.344-15438C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54880874 | |||||||
| chr14:54881039 | G | C | 10 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(7): Show |
10 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(7): Show |
intron_variant | MODIFIER | c.344-15603C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881039 | |||||||
| chr14:54881068 | G | A | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.344-15632C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881068 | |||||||
| chr14:54881109 | A | G | 191 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(188): Show |
197 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(194): Show |
intron_variant | MODIFIER | c.344-15673T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881109 | |||||||
| chr14:54881115 | G | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-15679C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881115 | |||||||
| chr14:54881116 | C | T | 29 | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0106 others(26): Show |
30 | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(27): Show |
intron_variant | MODIFIER | c.344-15680G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881116 | |||||||
| chr14:54881117 | G | A | 1 | a0001c0001t0008g0210 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.344-15681C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881117 | |||||||
| chr14:54881198 | T | A | 78 | a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0071 others(75): Show |
79 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(76): Show |
intron_variant | MODIFIER | c.344-15762A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881198 | |||||||
| chr14:54881206 | A | C | 1 | a0001c0001t0005g0333 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.344-15770T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881206 | |||||||
| chr14:54881256 | A | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-15820T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881256 | |||||||
| chr14:54881300 | G | A | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-15864C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881300 | |||||||
| chr14:54881338 | C | T | 2 | a0001c0001t0004g0026 a0001c0001t0004g0032 |
2 | HG03209.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.344-15902G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881338 | |||||||
| chr14:54881344 | G | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-15908C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881344 | |||||||
| chr14:54881400 | C | T | 70 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(67): Show |
75 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(72): Show |
intron_variant | MODIFIER | c.344-15964G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881400 | |||||||
| chr14:54881461 | A | T | 1 | a0001c0001t0002g0145 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.344-16025T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881461 | |||||||
| chr14:54881655 | G | A | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-16219C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881655 | |||||||
| chr14:54881694 | A | G | 6 | a0001c0001t0001g0250 a0001c0001t0002g0213 a0001c0001t0002g0267 others(3): Show |
6 | HG01168.hp1 HG01169.hp2 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.344-16258T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881694 | |||||||
| chr14:54881711 | T | C | 1 | a0001c0001t0001g0178 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.344-16275A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881711 | |||||||
| chr14:54881859 | T | G | 1 | a0001c0001t0002g0063 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.344-16423A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881859 | |||||||
| chr14:54881934 | C | G | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.344-16498G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881934 | |||||||
| chr14:54881948 | T | C | 72 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(69): Show |
73 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(70): Show |
intron_variant | MODIFIER | c.344-16512A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54881948 | |||||||
| chr14:54882119 | C | G | 96 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(93): Show |
101 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(98): Show |
intron_variant | MODIFIER | c.344-16683G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882119 | |||||||
| chr14:54882151 | C | T | 181 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(178): Show |
187 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(184): Show |
intron_variant | MODIFIER | c.344-16715G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882151 | |||||||
| chr14:54882383 | T | C | 1 | a0001c0001t0020g0105 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.344-16947A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882383 | |||||||
| chr14:54882385 | T | C | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-16949A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882385 | |||||||
| chr14:54882540 | C | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.344-17104G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882540 | |||||||
| chr14:54882564 | T | C | 19 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(16): Show |
19 | HG00438.hp1 HG00597.hp2 HG02523.hp2 others(16): Show |
intron_variant | MODIFIER | c.344-17128A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882564 | |||||||
| chr14:54882624 | C | T | 1 | a0001c0001t0018g0017 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.344-17188G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882624 | |||||||
| chr14:54882697 | A | T | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.344-17261T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882697 | |||||||
| chr14:54882831 | C | T | 71 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(68): Show |
72 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(69): Show |
intron_variant | MODIFIER | c.344-17395G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54882831 | |||||||
| chr14:54883242 | C | T | 5 | a0001c0001t0001g0114 a0001c0001t0001g0132 a0001c0001t0001g0201 others(2): Show |
5 | HG01261.hp2 HG02451.hp1 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.344-17806G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883242 | |||||||
| chr14:54883276 | G | A | 5 | a0001c0001t0006g0261 a0001c0001t0006g0262 a0001c0001t0006g0263 others(2): Show |
5 | HG00741.hp1 HG01069.hp2 HG01071.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-17840C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883276 | |||||||
| chr14:54883371 | C | CA | 36 | a0001c0001t0001g0056 a0001c0001t0001g0111 a0001c0001t0001g0162 others(33): Show |
36 | HG00609.hp2 HG00673.hp1 HG00735.hp1 others(33): Show |
intron_variant | MODIFIER | c.344-17936dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883371 | |||||||
| chr14:54883371 | CA | C | 93 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0010 others(90): Show |
95 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show |
intron_variant | MODIFIER | c.344-17936delT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883371 | |||||||
| chr14:54883371 | CAAAAAAA others(1): Show |
C | 53 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(50): Show |
53 | HG00621.hp1 HG01081.hp1 HG01168.hp1 others(50): Show |
intron_variant | MODIFIER | c.344-17943_344-1793 others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883371 | |||||||
| chr14:54883371 | CAAAAAAA others(2): Show |
C | 40 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0180 others(37): Show |
45 | HG00408.hp2 HG00423.hp1 HG00639.hp2 others(42): Show |
intron_variant | MODIFIER | c.344-17944_344-1793 others(13): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883371 | |||||||
| chr14:54883371 | CAAAAAAA others(3): Show |
C | 5 | a0001c0001t0001g0014 a0001c0001t0001g0298 a0001c0001t0010g0248 others(2): Show |
5 | HG02257.hp1 HG02896.hp1 HG02897.hp1 others(2): Show |
intron_variant | MODIFIER | c.344-17945_344-1793 others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883371 | |||||||
| chr14:54883371 | CAAAAAAA others(4): Show |
C | 1 | a0001c0001t0001g0294 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.344-17946_344-1793 others(15): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883371 | |||||||
| chr14:54883528 | A | C | 1 | a0001c0001t0001g0250 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.344-18092T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883528 | |||||||
| chr14:54883894 | G | A | 1 | a0001c0001t0002g0251 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.343+18427C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883894 | |||||||
| chr14:54883948 | G | T | 99 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(96): Show |
104 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(101): Show |
intron_variant | MODIFIER | c.343+18373C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883948 | |||||||
| chr14:54883978 | A | G | 94 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0049 others(91): Show |
99 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(96): Show |
intron_variant | MODIFIER | c.343+18343T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54883978 | |||||||
| chr14:54884071 | A | C | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.343+18250T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884071 | |||||||
| chr14:54884096 | C | A | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.343+18225G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884096 | |||||||
| chr14:54884140 | C | G | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.343+18181G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884140 | |||||||
| chr14:54884242 | A | C | 2 | a0001c0001t0001g0211 a0001c0001t0001g0234 |
2 | HG02145.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.343+18079T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884242 | |||||||
| chr14:54884461 | T | C | 69 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(66): Show |
70 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(67): Show |
intron_variant | MODIFIER | c.343+17860A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884461 | |||||||
| chr14:54884467 | T | G | 95 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(92): Show |
100 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(97): Show |
intron_variant | MODIFIER | c.343+17854A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884467 | |||||||
| chr14:54884548 | T | C | 73 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.343+17773A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884548 | |||||||
| chr14:54884700 | AC | A | 76 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(73): Show |
77 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(74): Show |
intron_variant | MODIFIER | c.343+17620delG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884700 | |||||||
| chr14:54884713 | T | G | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+17608A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884713 | |||||||
| chr14:54884785 | AAC | A | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+17534_343+1753 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884785 | |||||||
| chr14:54884787 | C | CAAA | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.343+17533_343+1753 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884787 | |||||||
| chr14:54884789 | A | AAG | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.343+17531_343+1753 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884789 | |||||||
| chr14:54884789 | AC | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+17531delG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884789 | |||||||
| chr14:54884790 | C | A | 28 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(25): Show |
28 | HG01081.hp1 HG01243.hp2 HG01433.hp1 others(25): Show |
intron_variant | MODIFIER | c.343+17531G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884790 | |||||||
| chr14:54884790 | C | CAA | 3 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0002g0009 |
3 | HG01891.hp1 NA18951.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.343+17529_343+1753 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884790 | |||||||
| chr14:54884790 | C | CAAA | 57 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(54): Show |
62 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(59): Show |
intron_variant | MODIFIER | c.343+17530_343+1753 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884790 | |||||||
| chr14:54884793 | C | A | 95 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(92): Show |
100 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.343+17528G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884793 | |||||||
| chr14:54884796 | C | A | 96 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(93): Show |
101 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(98): Show |
intron_variant | MODIFIER | c.343+17525G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884796 | |||||||
| chr14:54884799 | C | A | 150 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(147): Show |
156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.343+17522G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884799 | |||||||
| chr14:54884799 | C | CAA | 10 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(7): Show |
10 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(7): Show |
intron_variant | MODIFIER | c.343+17520_343+1752 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884799 | |||||||
| chr14:54884802 | A | C | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.343+17519T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884802 | |||||||
| chr14:54884849 | T | C | 1 | a0001c0001t0005g0330 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.343+17472A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884849 | |||||||
| chr14:54884861 | G | C | 76 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(73): Show |
77 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(74): Show |
intron_variant | MODIFIER | c.343+17460C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884861 | |||||||
| chr14:54884921 | A | G | 1 | a0001c0001t0001g0131 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.343+17400T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884921 | |||||||
| chr14:54884990 | A | G | 1 | a0001c0001t0001g0221 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.343+17331T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54884990 | |||||||
| chr14:54885037 | C | T | 1 | a0001c0001t0007g0277 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.343+17284G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885037 | |||||||
| chr14:54885261 | C | T | 3 | a0001c0001t0010g0248 a0001c0001t0010g0249 a0001c0001t0010g0270 |
3 | HG02896.hp1 HG02897.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.343+17060G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885261 | |||||||
| chr14:54885275 | A | T | 6 | a0001c0001t0001g0001 a0001c0001t0001g0286 a0001c0001t0001g0290 others(3): Show |
10 | HG00738.hp1 HG01257.hp1 HG01258.hp1 others(7): Show |
intron_variant | MODIFIER | c.343+17046T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885275 | |||||||
| chr14:54885322 | G | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.343+16999C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885322 | |||||||
| chr14:54885323 | T | C | 52 | a0001c0001t0001g0056 a0001c0001t0001g0071 a0001c0001t0002g0002 others(49): Show |
53 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(50): Show |
intron_variant | MODIFIER | c.343+16998A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885323 | |||||||
| chr14:54885435 | G | A | 1 | a0001c0001t0001g0144 | 1 | HG01928.hp1 | intron_variant | MODIFIER | c.343+16886C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885435 | |||||||
| chr14:54885437 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.343+16884C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885437 | |||||||
| chr14:54885473 | T | C | 1 | a0001c0001t0002g0044 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.343+16848A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885473 | |||||||
| chr14:54885709 | C | T | 1 | a0001c0001t0004g0020 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.343+16612G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885709 | |||||||
| chr14:54885803 | T | C | 182 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(179): Show |
188 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(185): Show |
intron_variant | MODIFIER | c.343+16518A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885803 | |||||||
| chr14:54885851 | T | C | 1 | a0001c0001t0001g0164 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.343+16470A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885851 | |||||||
| chr14:54885868 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.343+16453C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885868 | |||||||
| chr14:54885911 | C | A | 1 | a0001c0001t0005g0336 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.343+16410G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54885911 | |||||||
| chr14:54886066 | T | C | 2 | a0001c0001t0021g0013 a0001c0001t0027g0338 |
2 | HG03098.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.343+16255A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886066 | |||||||
| chr14:54886145 | C | T | 170 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(167): Show |
176 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(173): Show |
intron_variant | MODIFIER | c.343+16176G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886145 | |||||||
| chr14:54886178 | C | A | 1 | a0001c0001t0001g0226 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.343+16143G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886178 | |||||||
| chr14:54886276 | G | C | 1 | a0001c0001t0001g0236 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.343+16045C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886276 | |||||||
| chr14:54886338 | C | T | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.343+15983G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886338 | |||||||
| chr14:54886384 | C | T | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.343+15937G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886384 | |||||||
| chr14:54886394 | C | T | 1 | a0001c0001t0001g0130 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.343+15927G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886394 | |||||||
| chr14:54886469 | G | A | 91 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(88): Show |
96 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(93): Show |
intron_variant | MODIFIER | c.343+15852C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886469 | |||||||
| chr14:54886484 | T | C | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.343+15837A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886484 | |||||||
| chr14:54886509 | G | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+15812C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886509 | |||||||
| chr14:54886585 | C | T | 1 | a0001c0001t0001g0202 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.343+15736G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886585 | |||||||
| chr14:54886630 | A | C | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.343+15691T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886630 | |||||||
| chr14:54886631 | A | C | 27 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(24): Show |
27 | HG00639.hp2 HG01081.hp1 HG01243.hp2 others(24): Show |
intron_variant | MODIFIER | c.343+15690T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886631 | |||||||
| chr14:54886650 | C | T | 76 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0056 others(73): Show |
77 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(74): Show |
intron_variant | MODIFIER | c.343+15671G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886650 | |||||||
| chr14:54886679 | T | C | 1 | a0001c0001t0018g0017 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.343+15642A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886679 | |||||||
| chr14:54886812 | G | A | 1 | a0001c0001t0008g0300 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.343+15509C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886812 | |||||||
| chr14:54886840 | C | T | 6 | a0001c0001t0006g0259 a0001c0001t0006g0261 a0001c0001t0006g0262 others(3): Show |
6 | HG00639.hp1 HG00741.hp1 HG01069.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+15481G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886840 | |||||||
| chr14:54886882 | C | A | 1 | a0001c0001t0002g0257 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.343+15439G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886882 | |||||||
| chr14:54886999 | G | A | 93 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(90): Show |
98 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(95): Show |
intron_variant | MODIFIER | c.343+15322C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54886999 | |||||||
| chr14:54887070 | T | A | 170 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(167): Show |
176 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(173): Show |
intron_variant | MODIFIER | c.343+15251A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887070 | |||||||
| chr14:54887240 | T | G | 1 | a0001c0001t0014g0184 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.343+15081A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887240 | |||||||
| chr14:54887322 | G | C | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.343+14999C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887322 | |||||||
| chr14:54887429 | C | CAA | 77 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(74): Show |
78 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.343+14890_343+1489 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887429 | |||||||
| chr14:54887518 | G | A | 1 | a0001c0001t0001g0113 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.343+14803C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887518 | |||||||
| chr14:54887551 | A | C | 1 | a0001c0001t0001g0298 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.343+14770T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887551 | |||||||
| chr14:54887663 | A | G | 1 | a0001c0001t0001g0146 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.343+14658T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887663 | |||||||
| chr14:54887706 | C | T | 1 | a0001c0001t0002g0238 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.343+14615G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887706 | |||||||
| chr14:54887707 | G | A | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+14614C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887707 | |||||||
| chr14:54887848 | C | A | 12 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(9): Show |
12 | HG00323.hp2 HG01884.hp2 HG02055.hp2 others(9): Show |
intron_variant | MODIFIER | c.343+14473G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54887848 | |||||||
| chr14:54888118 | T | C | 1 | a0001c0001t0001g0130 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.343+14203A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888118 | |||||||
| chr14:54888151 | T | G | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.343+14170A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888151 | |||||||
| chr14:54888313 | C | T | 18 | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 others(15): Show |
18 | HG00099.hp1 HG00642.hp1 HG00735.hp1 others(15): Show |
intron_variant | MODIFIER | c.343+14008G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888313 | |||||||
| chr14:54888419 | G | A | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.343+13902C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888419 | |||||||
| chr14:54888425 | C | T | 1 | a0001c0001t0004g0031 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.343+13896G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888425 | |||||||
| chr14:54888516 | GT | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+13804delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888516 | |||||||
| chr14:54888522 | T | A | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.343+13799A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888522 | |||||||
| chr14:54888530 | TG | T | 95 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0015 others(92): Show |
100 | HG00408.hp2 HG00423.hp1 HG00621.hp1 others(97): Show |
intron_variant | MODIFIER | c.343+13790delC | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888530 | |||||||
| chr14:54888531 | G | T | 78 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(75): Show |
79 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(76): Show |
intron_variant | MODIFIER | c.343+13790C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888531 | |||||||
| chr14:54888533 | G | A | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.343+13788C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888533 | |||||||
| chr14:54888551 | C | T | 9 | a0001c0001t0002g0052 a0001c0001t0002g0058 a0001c0001t0002g0059 others(6): Show |
9 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(6): Show |
intron_variant | MODIFIER | c.343+13770G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888551 | |||||||
| chr14:54888654 | A | G | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.343+13667T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888654 | |||||||
| chr14:54888677 | T | TG | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.343+13643_343+1364 others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888677 | |||||||
| chr14:54888679 | A | AT | 97 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(94): Show |
103 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(100): Show |
intron_variant | MODIFIER | c.343+13641dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888679 | |||||||
| chr14:54888679 | A | T | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 |
3 | HG01496.hp1 HG02257.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.343+13642T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888679 | |||||||
| chr14:54888679 | AT | A | 77 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0056 others(74): Show |
78 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(75): Show |
intron_variant | MODIFIER | c.343+13641delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888679 | |||||||
| chr14:54888679 | ATTTTTTT | A | 17 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(14): Show |
17 | HG01081.hp1 HG01243.hp2 HG01433.hp1 others(14): Show |
intron_variant | MODIFIER | c.343+13635_343+1364 others(11): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888679 | |||||||
| chr14:54888714 | A | G | 2 | a0001c0001t0016g0064 a0001c0001t0016g0086 |
2 | NA18939.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.343+13607T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888714 | |||||||
| chr14:54888888 | A | G | 1 | a0001c0001t0004g0027 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.343+13433T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888888 | |||||||
| chr14:54888943 | A | G | 331 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(328): Show |
339 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(336): Show |
intron_variant | MODIFIER | c.343+13378T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888943 | |||||||
| chr14:54888989 | G | C | 1 | a0001c0001t0001g0227 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.343+13332C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54888989 | |||||||
| chr14:54889033 | C | G | 1 | a0001c0001t0002g0048 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.343+13288G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889033 | |||||||
| chr14:54889067 | A | G | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
5 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+13254T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889067 | |||||||
| chr14:54889190 | A | T | 1 | a0001c0001t0005g0327 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.343+13131T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889190 | |||||||
| chr14:54889252 | C | T | 7 | a0001c0001t0001g0131 a0001c0001t0001g0166 a0001c0001t0007g0276 others(4): Show |
7 | HG00099.hp2 HG02738.hp1 HG03490.hp2 others(4): Show |
intron_variant | MODIFIER | c.343+13069G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889252 | |||||||
| chr14:54889444 | G | A | 2 | a0001c0001t0002g0019 a0001c0001t0018g0017 |
2 | HG02630.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.343+12877C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889444 | |||||||
| chr14:54889477 | C | T | 2 | a0001c0001t0001g0011 a0001c0001t0001g0012 |
2 | HG01496.hp1 HG02280.hp1 |
intron_variant | MODIFIER | c.343+12844G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889477 | |||||||
| chr14:54889676 | C | T | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.343+12645G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889676 | |||||||
| chr14:54889807 | G | C | 73 | a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.343+12514C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889807 | |||||||
| chr14:54889845 | A | T | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+12476T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889845 | |||||||
| chr14:54889889 | G | A | 1 | a0001c0001t0002g0045 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.343+12432C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889889 | |||||||
| chr14:54889951 | T | C | 1 | a0001c0001t0001g0120 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.343+12370A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889951 | |||||||
| chr14:54889978 | T | C | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+12343A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54889978 | |||||||
| chr14:54890220 | G | A | 1 | a0001c0001t0001g0176 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.343+12101C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890220 | |||||||
| chr14:54890226 | G | A | 1 | a0001c0001t0007g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.343+12095C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890226 | |||||||
| chr14:54890316 | G | A | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+12005C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890316 | |||||||
| chr14:54890333 | A | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+11988T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890333 | |||||||
| chr14:54890371 | C | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+11950G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890371 | |||||||
| chr14:54890412 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+11909G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890412 | |||||||
| chr14:54890439 | G | A | 1 | a0001c0001t0001g0014 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.343+11882C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890439 | |||||||
| chr14:54890494 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+11827T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890494 | |||||||
| chr14:54890646 | C | G | 1 | a0001c0001t0015g0018 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.343+11675G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890646 | |||||||
| chr14:54890742 | T | G | 1 | a0001c0001t0001g0165 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.343+11579A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890742 | |||||||
| chr14:54890757 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+11564G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890757 | |||||||
| chr14:54890775 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+11546G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890775 | |||||||
| chr14:54890784 | G | A | 90 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(87): Show |
91 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.343+11537C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890784 | |||||||
| chr14:54890812 | A | G | 3 | a0001c0001t0002g0019 a0001c0001t0015g0018 a0001c0001t0018g0017 |
3 | HG02630.hp1 NA19043.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.343+11509T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54890812 | |||||||
| chr14:54891024 | A | G | 73 | a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.343+11297T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891024 | |||||||
| chr14:54891039 | T | G | 1 | a0001c0001t0001g0166 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.343+11282A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891039 | |||||||
| chr14:54891053 | C | T | 32 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(29): Show |
37 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.343+11268G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891053 | |||||||
| chr14:54891062 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+11259G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891062 | |||||||
| chr14:54891102 | T | TTTTG | 95 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(92): Show |
96 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(93): Show |
intron_variant | MODIFIER | c.343+11215_343+1121 others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891102 | |||||||
| chr14:54891189 | G | A | 1 | a0001c0001t0022g0030 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.343+11132C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891189 | |||||||
| chr14:54891293 | TG | T | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+11027delC | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891293 | |||||||
| chr14:54891328 | A | T | 1 | a0001c0001t0001g0211 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.343+10993T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891328 | |||||||
| chr14:54891405 | A | AT | 34 | a0001c0001t0001g0094 a0001c0001t0001g0106 a0001c0001t0001g0126 others(31): Show |
34 | HG00597.hp1 HG00639.hp2 HG01175.hp1 others(31): Show |
intron_variant | MODIFIER | c.343+10915dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891405 | |||||||
| chr14:54891405 | A | ATT | 63 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(60): Show |
64 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(61): Show |
intron_variant | MODIFIER | c.343+10914_343+1091 others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891405 | |||||||
| chr14:54891405 | A | ATTT | 7 | a0001c0001t0001g0071 a0001c0001t0002g0047 a0001c0001t0002g0063 others(4): Show |
7 | HG01069.hp1 HG01243.hp1 HG01981.hp2 others(4): Show |
intron_variant | MODIFIER | c.343+10913_343+1091 others(7): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891405 | |||||||
| chr14:54891405 | AT | A | 37 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(34): Show |
42 | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(39): Show |
intron_variant | MODIFIER | c.343+10915delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891405 | |||||||
| chr14:54891519 | C | T | 1 | a0001c0001t0001g0285 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.343+10802G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891519 | |||||||
| chr14:54891520 | G | A | 1 | a0001c0001t0001g0227 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.343+10801C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891520 | |||||||
| chr14:54891529 | C | T | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.343+10792G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891529 | |||||||
| chr14:54891557 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10764T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891557 | |||||||
| chr14:54891679 | G | C | 2 | a0001c0001t0002g0061 a0001c0001t0002g0070 |
2 | HG02896.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.343+10642C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891679 | |||||||
| chr14:54891698 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10623A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891698 | |||||||
| chr14:54891700 | G | A | 7 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(4): Show |
7 | HG01081.hp1 HG01496.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.343+10621C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891700 | |||||||
| chr14:54891713 | A | C | 12 | a0001c0001t0001g0004 a0001c0001t0001g0180 a0001c0001t0001g0182 others(9): Show |
13 | HG00408.hp2 HG00423.hp1 HG00673.hp2 others(10): Show |
intron_variant | MODIFIER | c.343+10608T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891713 | |||||||
| chr14:54891735 | C | T | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+10586G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891735 | |||||||
| chr14:54891825 | T | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10496A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891825 | |||||||
| chr14:54891921 | T | C | 4 | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0194 others(1): Show |
4 | HG01516.hp1 HG01978.hp1 NA20805.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10400A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891921 | |||||||
| chr14:54891937 | G | C | 1 | a0001c0001t0001g0269 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.343+10384C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891937 | |||||||
| chr14:54891947 | G | A | 155 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(152): Show |
161 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(158): Show |
intron_variant | MODIFIER | c.343+10374C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891947 | |||||||
| chr14:54891948 | T | C | 1 | a0001c0001t0002g0044 | 1 | HG02523.hp2 | intron_variant | MODIFIER | c.343+10373A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891948 | |||||||
| chr14:54891951 | G | A | 1 | a0001c0001t0005g0335 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.343+10370C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54891951 | |||||||
| chr14:54892037 | C | T | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+10284G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892037 | |||||||
| chr14:54892053 | A | G | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0021g0013 |
3 | HG01496.hp1 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.343+10268T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892053 | |||||||
| chr14:54892096 | G | C | 2 | a0001c0001t0001g0269 a0001c0001t0002g0258 |
2 | NA18948.hp1 NA18986.hp2 |
intron_variant | MODIFIER | c.343+10225C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892096 | |||||||
| chr14:54892124 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10197T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892124 | |||||||
| chr14:54892159 | A | G | 112 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(109): Show |
113 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(110): Show |
intron_variant | MODIFIER | c.343+10162T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892159 | |||||||
| chr14:54892223 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10098T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892223 | |||||||
| chr14:54892247 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10074G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892247 | |||||||
| chr14:54892248 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+10073T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892248 | |||||||
| chr14:54892331 | A | T | 1 | a0001c0001t0001g0236 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.343+9990T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892331 | |||||||
| chr14:54892339 | G | A | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.343+9982C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892339 | |||||||
| chr14:54892385 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9936T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892385 | |||||||
| chr14:54892451 | G | A | 2 | a0001c0001t0001g0297 a0001c0001t0026g0284 |
2 | NA18943.hp1 NA19009.hp1 |
intron_variant | MODIFIER | c.343+9870C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892451 | |||||||
| chr14:54892459 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9862G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892459 | |||||||
| chr14:54892506 | C | T | 1 | a0001c0001t0005g0336 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.343+9815G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892506 | |||||||
| chr14:54892667 | C | T | 1 | a0001c0001t0007g0276 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.343+9654G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892667 | |||||||
| chr14:54892730 | A | G | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+9591T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892730 | |||||||
| chr14:54892876 | G | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9445C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892876 | |||||||
| chr14:54892884 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9437T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892884 | |||||||
| chr14:54892895 | A | G | 3 | a0001c0001t0001g0112 a0001c0001t0001g0186 a0001c0002t0002g0301 |
3 | HG01884.hp1 HG03225.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.343+9426T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892895 | |||||||
| chr14:54892935 | C | T | 32 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(29): Show |
37 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.343+9386G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892935 | |||||||
| chr14:54892937 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9384T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892937 | |||||||
| chr14:54892946 | G | C | 32 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0113 others(29): Show |
37 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(34): Show |
intron_variant | MODIFIER | c.343+9375C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892946 | |||||||
| chr14:54892961 | C | T | 1 | a0001c0001t0002g0242 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.343+9360G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892961 | |||||||
| chr14:54892972 | G | A | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
5 | HG00408.hp2 HG01496.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+9349C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54892972 | |||||||
| chr14:54893046 | T | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9275A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893046 | |||||||
| chr14:54893071 | T | C | 2 | a0001c0001t0001g0167 a0001c0001t0001g0187 |
2 | HG00140.hp1 HG00735.hp2 |
intron_variant | MODIFIER | c.343+9250A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893071 | |||||||
| chr14:54893075 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9246G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893075 | |||||||
| chr14:54893104 | G | A | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.343+9217C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893104 | |||||||
| chr14:54893113 | T | C | 9 | a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0028 others(6): Show |
9 | HG00639.hp2 HG02135.hp2 HG03195.hp1 others(6): Show |
intron_variant | MODIFIER | c.343+9208A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893113 | |||||||
| chr14:54893144 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9177A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893144 | |||||||
| chr14:54893160 | C | T | 10 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(7): Show |
10 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(7): Show |
intron_variant | MODIFIER | c.343+9161G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893160 | |||||||
| chr14:54893256 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+9065T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893256 | |||||||
| chr14:54893275 | C | G | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+9046G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893275 | |||||||
| chr14:54893327 | T | A | 1 | a0001c0001t0015g0018 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.343+8994A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893327 | |||||||
| chr14:54893338 | T | C | 15 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(12): Show |
15 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(12): Show |
intron_variant | MODIFIER | c.343+8983A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893338 | |||||||
| chr14:54893407 | CAT | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+8912_343+8913d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893407 | |||||||
| chr14:54893421 | T | A | 90 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(87): Show |
91 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.343+8900A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893421 | |||||||
| chr14:54893438 | G | A | 1 | a0001c0001t0001g0071 | 1 | HG02074.hp1 | intron_variant | MODIFIER | c.343+8883C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893438 | |||||||
| chr14:54893451 | G | A | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.343+8870C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893451 | |||||||
| chr14:54893485 | T | C | 162 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(159): Show |
168 | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(165): Show |
intron_variant | MODIFIER | c.343+8836A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893485 | |||||||
| chr14:54893534 | C | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+8787G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893534 | |||||||
| chr14:54893547 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+8774G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893547 | |||||||
| chr14:54893602 | T | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+8719A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893602 | |||||||
| chr14:54893798 | C | G | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+8523G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893798 | |||||||
| chr14:54893823 | G | A | 5 | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0002g0019 others(2): Show |
5 | HG01993.hp1 HG02630.hp1 NA19043.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+8498C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893823 | |||||||
| chr14:54893858 | G | A | 5 | a0001c0001t0004g0027 a0001c0001t0004g0028 a0001c0001t0004g0029 others(2): Show |
5 | HG02135.hp2 HG03669.hp2 HG03942.hp2 others(2): Show |
intron_variant | MODIFIER | c.343+8463C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893858 | |||||||
| chr14:54893952 | T | G | 2 | a0001c0001t0001g0168 a0001c0001t0001g0169 |
2 | NA18942.hp2 NA18954.hp2 |
intron_variant | MODIFIER | c.343+8369A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54893952 | |||||||
| chr14:54894118 | T | A | 73 | a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 others(70): Show |
74 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(71): Show |
intron_variant | MODIFIER | c.343+8203A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894118 | |||||||
| chr14:54894127 | T | G | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+8194A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894127 | |||||||
| chr14:54894129 | G | A | 1 | a0001c0001t0001g0112 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.343+8192C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894129 | |||||||
| chr14:54894322 | A | C | 1 | a0001c0001t0003g0307 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.343+7999T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894322 | |||||||
| chr14:54894360 | G | A | 10 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(7): Show |
10 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(7): Show |
intron_variant | MODIFIER | c.343+7961C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894360 | |||||||
| chr14:54894496 | A | AACC | 5 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(2): Show |
5 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+7822_343+7824d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894496 | |||||||
| chr14:54894534 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.343+7787C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894534 | |||||||
| chr14:54894539 | C | T | 1 | a0001c0001t0001g0177 | 1 | NA18991.hp1 | intron_variant | MODIFIER | c.343+7782G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894539 | |||||||
| chr14:54894658 | A | G | 1 | a0001c0001t0001g0180 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.343+7663T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894658 | |||||||
| chr14:54894662 | G | T | 1 | a0001c0001t0007g0275 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.343+7659C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894662 | |||||||
| chr14:54894743 | CAA | C | 111 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(108): Show |
112 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(109): Show |
intron_variant | MODIFIER | c.343+7576_343+7577d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894743 | |||||||
| chr14:54894953 | C | T | 3 | a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0012g0324 |
3 | HG02258.hp1 HG02922.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.343+7368G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54894953 | |||||||
| chr14:54895118 | G | A | 90 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(87): Show |
91 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.343+7203C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895118 | |||||||
| chr14:54895282 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+7039A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895282 | |||||||
| chr14:54895640 | T | C | 1 | a0001c0001t0003g0314 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.343+6681A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895640 | |||||||
| chr14:54895683 | G | C | 1 | a0001c0001t0001g0228 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.343+6638C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895683 | |||||||
| chr14:54895810 | G | A | 14 | a0001c0001t0001g0112 a0001c0001t0001g0119 a0001c0001t0001g0121 others(11): Show |
14 | HG00558.hp1 HG01884.hp1 HG03225.hp1 others(11): Show |
intron_variant | MODIFIER | c.343+6511C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895810 | |||||||
| chr14:54895948 | G | C | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.343+6373C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895948 | |||||||
| chr14:54895955 | G | A | 1 | a0001c0001t0001g0056 | 1 | NA18977.hp2 | intron_variant | MODIFIER | c.343+6366C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895955 | |||||||
| chr14:54895990 | C | T | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+6331G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54895990 | |||||||
| chr14:54896302 | G | A | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+6019C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896302 | |||||||
| chr14:54896469 | A | G | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+5852T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896469 | |||||||
| chr14:54896476 | T | TA | 106 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(103): Show |
107 | HG00323.hp1 HG00408.hp1 HG00438.hp1 others(104): Show |
intron_variant | MODIFIER | c.343+5844dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896476 | |||||||
| chr14:54896480 | A | T | 2 | a0001c0001t0001g0124 a0001c0001t0001g0197 |
2 | NA18957.hp1 NA18964.hp1 |
intron_variant | MODIFIER | c.343+5841T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896480 | |||||||
| chr14:54896603 | G | A | 150 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(147): Show |
156 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(153): Show |
intron_variant | MODIFIER | c.343+5718C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896603 | |||||||
| chr14:54896618 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+5703T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896618 | |||||||
| chr14:54896629 | T | C | 13 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(10): Show |
13 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(10): Show |
intron_variant | MODIFIER | c.343+5692A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896629 | |||||||
| chr14:54896650 | C | T | 2 | a0001c0001t0013g0007 a0001c0001t0013g0008 |
2 | HG01243.hp2 NA19043.hp2 |
intron_variant | MODIFIER | c.343+5671G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896650 | |||||||
| chr14:54896683 | C | T | 13 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(10): Show |
13 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(10): Show |
intron_variant | MODIFIER | c.343+5638G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896683 | |||||||
| chr14:54896687 | C | T | 6 | a0001c0001t0001g0049 a0001c0001t0001g0073 a0001c0001t0001g0074 others(3): Show |
6 | HG01884.hp2 HG02055.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.343+5634G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896687 | |||||||
| chr14:54896705 | G | C | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0021g0013 |
3 | HG01496.hp1 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.343+5616C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896705 | |||||||
| chr14:54896729 | G | A | 1 | a0001c0001t0001g0178 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.343+5592C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896729 | |||||||
| chr14:54896731 | T | G | 1 | a0001c0001t0001g0178 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.343+5590A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896731 | |||||||
| chr14:54896732 | G | A | 1 | a0001c0001t0002g0057 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.343+5589C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896732 | |||||||
| chr14:54896740 | A | G | 2 | a0001c0001t0001g0122 a0001c0001t0001g0123 |
2 | HG01516.hp1 NA20805.hp1 |
intron_variant | MODIFIER | c.343+5581T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896740 | |||||||
| chr14:54896752 | A | G | 87 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(84): Show |
88 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.343+5569T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896752 | |||||||
| chr14:54896777 | G | A | 1 | a0001c0001t0001g0209 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.343+5544C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896777 | |||||||
| chr14:54896836 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+5485A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896836 | |||||||
| chr14:54896837 | G | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+5484C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896837 | |||||||
| chr14:54896839 | GAACCGGG others(84): Show |
G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+5391_343+5481d others(93): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896839 | |||||||
| chr14:54896844 | G | A | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.343+5477C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896844 | |||||||
| chr14:54896874 | G | A | 64 | a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 others(61): Show |
65 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(62): Show |
intron_variant | MODIFIER | c.343+5447C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896874 | |||||||
| chr14:54896918 | C | CA | 22 | a0001c0001t0001g0005 a0001c0001t0001g0049 a0001c0001t0001g0073 others(19): Show |
22 | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.343+5402dupT | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54896918 | |||||||
| chr14:54897004 | C | CT | 83 | a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0071 others(80): Show |
84 | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(81): Show |
intron_variant | MODIFIER | c.343+5316dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897004 | |||||||
| chr14:54897004 | C | CTT | 27 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(24): Show |
27 | HG00438.hp1 HG00741.hp2 HG01361.hp2 others(24): Show |
intron_variant | MODIFIER | c.343+5315_343+5316d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897004 | |||||||
| chr14:54897010 | G | GT | 24 | a0001c0001t0001g0005 a0001c0001t0001g0054 a0001c0001t0001g0114 others(21): Show |
24 | HG00642.hp1 HG00738.hp2 HG01109.hp2 others(21): Show |
intron_variant | MODIFIER | c.343+5310dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897010 | |||||||
| chr14:54897010 | G | T | 151 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(148): Show |
157 | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(154): Show |
intron_variant | MODIFIER | c.343+5311C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897010 | |||||||
| chr14:54897017 | T | G | 4 | a0001c0001t0001g0003 a0001c0001t0001g0177 a0001c0001t0001g0178 others(1): Show |
5 | NA18971.hp1 NA18986.hp1 NA18991.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+5304A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897017 | |||||||
| chr14:54897076 | C | T | 9 | a0001c0001t0002g0002 a0001c0001t0002g0077 a0001c0001t0002g0078 others(6): Show |
10 | HG00741.hp2 HG01069.hp1 HG01074.hp1 others(7): Show |
intron_variant | MODIFIER | c.343+5245G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897076 | |||||||
| chr14:54897096 | G | A | 3 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0045 |
3 | HG00597.hp2 NA19087.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.343+5225C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897096 | |||||||
| chr14:54897198 | C | T | 39 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0054 others(36): Show |
44 | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(41): Show |
intron_variant | MODIFIER | c.343+5123G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897198 | |||||||
| chr14:54897291 | T | TC | 115 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(112): Show |
116 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(113): Show |
intron_variant | MODIFIER | c.343+5029dupG | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897291 | |||||||
| chr14:54897319 | G | A | 1 | a0001c0001t0001g0179 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.343+5002C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897319 | |||||||
| chr14:54897321 | T | G | 1 | a0001c0001t0008g0287 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.343+5000A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897321 | |||||||
| chr14:54897371 | T | C | 151 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(148): Show |
157 | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(154): Show |
intron_variant | MODIFIER | c.343+4950A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897371 | |||||||
| chr14:54897374 | C | T | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
5 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+4947G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897374 | |||||||
| chr14:54897432 | G | C | 3 | a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0017g0006 |
3 | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.343+4889C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897432 | |||||||
| chr14:54897451 | G | A | 31 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0180 others(28): Show |
36 | HG00408.hp2 HG00423.hp1 HG00642.hp2 others(33): Show |
intron_variant | MODIFIER | c.343+4870C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897451 | |||||||
| chr14:54897552 | G | C | 1 | a0001c0001t0001g0186 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.343+4769C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897552 | |||||||
| chr14:54897581 | G | A | 1 | a0001c0001t0001g0187 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.343+4740C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897581 | |||||||
| chr14:54897585 | G | A | 1 | a0001c0001t0001g0188 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.343+4736C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897585 | |||||||
| chr14:54897658 | T | G | 2 | a0001c0001t0002g0072 a0001c0001t0002g0076 |
2 | HG02976.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.343+4663A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897658 | |||||||
| chr14:54897730 | G | A | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.343+4591C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897730 | |||||||
| chr14:54897756 | G | A | 2 | a0001c0001t0002g0058 a0001c0001t0002g0059 |
2 | NA18947.hp2 NA18980.hp1 |
intron_variant | MODIFIER | c.343+4565C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897756 | |||||||
| chr14:54897791 | T | C | 1 | a0001c0001t0001g0209 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.343+4530A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897791 | |||||||
| chr14:54897829 | C | T | 1 | a0001c0001t0001g0120 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.343+4492G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897829 | |||||||
| chr14:54897830 | G | A | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.343+4491C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897830 | |||||||
| chr14:54897903 | G | A | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.343+4418C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897903 | |||||||
| chr14:54897941 | G | C | 2 | a0001c0001t0001g0189 a0001c0001t0001g0190 |
2 | HG01993.hp1 NA19091.hp1 |
intron_variant | MODIFIER | c.343+4380C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897941 | |||||||
| chr14:54897993 | G | A | 3 | a0001c0001t0001g0114 a0001c0001t0008g0210 a0001c0001t0008g0233 |
3 | HG01261.hp2 HG02572.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.343+4328C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54897993 | |||||||
| chr14:54898128 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+4193G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898128 | |||||||
| chr14:54898261 | T | C | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+4060A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898261 | |||||||
| chr14:54898309 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+4012A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898309 | |||||||
| chr14:54898313 | T | G | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+4008A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898313 | |||||||
| chr14:54898554 | T | C | 10 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0049 others(7): Show |
10 | HG01884.hp2 HG01891.hp1 HG02055.hp2 others(7): Show |
intron_variant | MODIFIER | c.343+3767A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898554 | |||||||
| chr14:54898613 | T | A | 136 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(133): Show |
141 | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(138): Show |
intron_variant | MODIFIER | c.343+3708A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898613 | |||||||
| chr14:54898635 | G | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3686C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898635 | |||||||
| chr14:54898663 | A | G | 115 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(112): Show |
116 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(113): Show |
intron_variant | MODIFIER | c.343+3658T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898663 | |||||||
| chr14:54898676 | T | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3645A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898676 | |||||||
| chr14:54898707 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3614G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898707 | |||||||
| chr14:54898708 | C | T | 3 | a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0017g0006 |
3 | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.343+3613G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898708 | |||||||
| chr14:54898740 | C | A | 7 | a0001c0001t0006g0259 a0001c0001t0006g0260 a0001c0001t0006g0261 others(4): Show |
7 | HG00140.hp2 HG00639.hp1 HG00741.hp1 others(4): Show |
intron_variant | MODIFIER | c.343+3581G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898740 | |||||||
| chr14:54898824 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3497A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898824 | |||||||
| chr14:54898834 | G | GGTCTCTT others(4): Show |
1 | a0001c0001t0001g0010 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.343+3476_343+3486d others(13): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898834 | |||||||
| chr14:54898852 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3469T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898852 | |||||||
| chr14:54898912 | C | G | 1 | a0001c0001t0024g0095 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.343+3409G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898912 | |||||||
| chr14:54898935 | A | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3386T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898935 | |||||||
| chr14:54898973 | C | T | 2 | a0001c0001t0002g0033 a0001c0001t0002g0034 |
2 | NA19087.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.343+3348G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54898973 | |||||||
| chr14:54899022 | C | T | 3 | a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0017g0006 |
3 | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.343+3299G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899022 | |||||||
| chr14:54899047 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3274G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899047 | |||||||
| chr14:54899068 | C | A | 93 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(90): Show |
94 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(91): Show |
intron_variant | MODIFIER | c.343+3253G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899068 | |||||||
| chr14:54899139 | A | T | 11 | a0001c0001t0004g0020 a0001c0001t0004g0026 a0001c0001t0004g0027 others(8): Show |
11 | HG00639.hp2 HG02135.hp2 HG03041.hp1 others(8): Show |
intron_variant | MODIFIER | c.343+3182T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899139 | |||||||
| chr14:54899171 | C | A | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+3150G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899171 | |||||||
| chr14:54899176 | A | G | 1 | a0001c0002t0002g0301 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.343+3145T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899176 | |||||||
| chr14:54899234 | G | T | 93 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0021 others(90): Show |
94 | HG00323.hp1 HG00438.hp1 HG00597.hp2 others(91): Show |
intron_variant | MODIFIER | c.343+3087C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899234 | |||||||
| chr14:54899241 | C | T | 2 | a0001c0001t0002g0019 a0001c0001t0018g0017 |
2 | HG02630.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.343+3080G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899241 | |||||||
| chr14:54899256 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+3065A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899256 | |||||||
| chr14:54899475 | C | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2846G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899475 | |||||||
| chr14:54899477 | T | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2844A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899477 | |||||||
| chr14:54899552 | C | A | 1 | a0001c0001t0001g0192 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.343+2769G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899552 | |||||||
| chr14:54899561 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2760A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899561 | |||||||
| chr14:54899564 | G | A | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+2757C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899564 | |||||||
| chr14:54899646 | A | T | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.343+2675T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899646 | |||||||
| chr14:54899736 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2585G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899736 | |||||||
| chr14:54899737 | C | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2584G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899737 | |||||||
| chr14:54899754 | T | G | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.343+2567A>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899754 | |||||||
| chr14:54899808 | C | T | 1 | a0001c0001t0003g0309 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.343+2513G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899808 | |||||||
| chr14:54899868 | C | CT | 16 | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0011 others(13): Show |
20 | HG00642.hp2 HG00738.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.343+2452dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899868 | |||||||
| chr14:54899868 | CT | C | 9 | a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0002g0076 others(6): Show |
9 | HG00741.hp1 HG01069.hp2 HG01071.hp1 others(6): Show |
intron_variant | MODIFIER | c.343+2452delA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899868 | |||||||
| chr14:54899904 | G | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2417C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899904 | |||||||
| chr14:54899928 | G | A | 5 | a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0335 others(2): Show |
5 | HG02109.hp2 HG02809.hp1 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+2393C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899928 | |||||||
| chr14:54899934 | G | A | 5 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(2): Show |
5 | HG01168.hp2 HG01496.hp1 HG02257.hp1 others(2): Show |
intron_variant | MODIFIER | c.343+2387C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899934 | |||||||
| chr14:54899943 | C | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2378G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899943 | |||||||
| chr14:54899965 | A | T | 4 | a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 others(1): Show |
4 | HG00408.hp1 HG00438.hp2 HG00609.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+2356T>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899965 | |||||||
| chr14:54899999 | G | A | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.343+2322C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54899999 | |||||||
| chr14:54900025 | C | T | 1 | a0001c0001t0025g0266 | 1 | HG01975.hp1 | intron_variant | MODIFIER | c.343+2296G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900025 | |||||||
| chr14:54900049 | G | A | 2 | a0001c0001t0003g0315 a0001c0001t0003g0316 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.343+2272C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900049 | |||||||
| chr14:54900154 | C | G | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.343+2167G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900154 | |||||||
| chr14:54900169 | G | A | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+2152C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900169 | |||||||
| chr14:54900209 | G | GT | 7 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(4): Show |
7 | HG01361.hp2 HG01496.hp1 HG01975.hp2 others(4): Show |
intron_variant | MODIFIER | c.343+2111dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900209 | |||||||
| chr14:54900305 | G | A | 1 | a0001c0001t0002g0060 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.343+2016C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900305 | |||||||
| chr14:54900327 | A | ACTG | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1993_343+1994i others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900327 | |||||||
| chr14:54900328 | G | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1993C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900328 | |||||||
| chr14:54900329 | C | A | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1992G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900329 | |||||||
| chr14:54900393 | G | T | 1 | a0001c0001t0001g0285 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.343+1928C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900393 | |||||||
| chr14:54900418 | A | G | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1903T>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900418 | |||||||
| chr14:54900428 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1893A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900428 | |||||||
| chr14:54900667 | T | C | 2 | a0001c0001t0001g0194 a0001c0001t0001g0195 |
2 | HG01978.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.343+1654A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900667 | |||||||
| chr14:54900783 | T | A | 1 | a0001c0001t0027g0338 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.343+1538A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900783 | |||||||
| chr14:54900845 | T | A | 1 | a0002c0004t0001g0303 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.343+1476A>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | T | TCA | 24 | a0001c0001t0001g0005 a0001c0001t0001g0071 a0001c0001t0001g0073 others(21): Show |
25 | HG01109.hp1 HG02071.hp1 HG02074.hp1 others(22): Show |
intron_variant | MODIFIER | c.343+1474_343+1475d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | T | TCACA | 29 | a0001c0001t0001g0087 a0001c0001t0001g0094 a0001c0001t0002g0002 others(26): Show |
30 | HG00621.hp1 HG00741.hp2 HG01069.hp1 others(27): Show |
intron_variant | MODIFIER | c.343+1472_343+1475d others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | T | TCACACA | 22 | a0001c0001t0001g0099 a0001c0001t0001g0250 a0001c0001t0002g0096 others(19): Show |
22 | HG00140.hp2 HG00323.hp1 HG00639.hp1 others(19): Show |
intron_variant | MODIFIER | c.343+1470_343+1475d others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | T | TCACACAC others(1): Show |
4 | a0001c0001t0001g0269 a0001c0001t0002g0267 a0001c0001t0002g0268 others(1): Show |
4 | HG01168.hp1 HG01975.hp1 HG02015.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1468_343+1475d others(10): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | T | TCACACAC others(3): Show |
4 | a0001c0001t0001g0272 a0001c0001t0002g0100 a0001c0001t0002g0271 others(1): Show |
4 | HG01361.hp2 HG02300.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.343+1466_343+1475d others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | T | TCACACAC others(5): Show |
1 | a0001c0001t0002g0273 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.343+1464_343+1475d others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCA | T | 25 | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0196 others(22): Show |
25 | HG01261.hp1 HG01515.hp2 HG01975.hp2 others(22): Show |
intron_variant | MODIFIER | c.343+1474_343+1475d others(4): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACA | T | 115 | a0001c0001t0001g0003 a0001c0001t0001g0115 a0001c0001t0001g0116 others(112): Show |
116 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(113): Show |
intron_variant | MODIFIER | c.343+1472_343+1475d others(6): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACA | T | 19 | a0001c0001t0001g0021 a0001c0001t0001g0106 a0001c0001t0001g0107 others(16): Show |
19 | HG01070.hp2 HG01175.hp1 HG01261.hp2 others(16): Show |
intron_variant | MODIFIER | c.343+1470_343+1475d others(8): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACAC others(1): Show |
T | 29 | a0001c0001t0001g0001 a0001c0001t0001g0104 a0001c0001t0001g0290 others(26): Show |
33 | HG00642.hp2 HG00738.hp1 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.343+1468_343+1475d others(10): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACAC others(3): Show |
T | 3 | a0001c0001t0008g0288 a0001c0001t0008g0289 a0001c0001t0018g0017 |
3 | NA19062.hp2 NA19240.hp1 NA20129.hp1 |
intron_variant | MODIFIER | c.343+1466_343+1475d others(12): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACAC others(5): Show |
T | 2 | a0001c0001t0001g0286 a0001c0001t0008g0287 |
2 | HG01516.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.343+1464_343+1475d others(14): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACAC others(7): Show |
T | 8 | a0001c0001t0001g0285 a0001c0001t0007g0275 a0001c0001t0007g0276 others(5): Show |
8 | HG00323.hp2 HG02738.hp1 HG03098.hp2 others(5): Show |
intron_variant | MODIFIER | c.343+1462_343+1475d others(16): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACAC others(9): Show |
T | 2 | a0001c0001t0001g0015 a0001c0001t0001g0016 |
2 | HG01891.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.343+1460_343+1475d others(18): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900845 | TCACACAC others(13): Show |
T | 3 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0021g0013 |
3 | HG01496.hp1 HG02280.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.343+1456_343+1475d others(22): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900845 | |||||||
| chr14:54900871 | A | C | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.343+1450T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900871 | |||||||
| chr14:54900886 | CACA | C | 6 | a0001c0001t0001g0004 a0001c0001t0001g0212 a0001c0001t0001g0215 others(3): Show |
7 | HG02083.hp1 HG02129.hp1 HG02135.hp2 others(4): Show |
intron_variant | MODIFIER | c.343+1432_343+1434d others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900886 | |||||||
| chr14:54900889 | A | ACAC | 3 | a0001c0001t0001g0101 a0001c0001t0001g0222 a0001c0001t0002g0214 |
3 | HG02056.hp2 HG02165.hp1 HG02165.hp2 |
intron_variant | MODIFIER | c.343+1431_343+1432i others(5): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900889 | |||||||
| chr14:54900890 | A | C | 2 | a0001c0001t0001g0102 a0001c0001t0002g0103 |
2 | NA18612.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.343+1431T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900890 | |||||||
| chr14:54900891 | A | C | 1 | a0001c0001t0001g0101 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.343+1430T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900891 | |||||||
| chr14:54900946 | T | C | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+1375A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54900946 | |||||||
| chr14:54901013 | G | A | 3 | a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0017g0006 |
3 | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.343+1308C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901013 | |||||||
| chr14:54901314 | T | C | 7 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(4): Show |
7 | HG01243.hp2 HG01496.hp1 HG02257.hp1 others(4): Show |
intron_variant | MODIFIER | c.343+1007A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901314 | |||||||
| chr14:54901362 | C | CT | 17 | a0001c0001t0001g0001 a0001c0001t0001g0285 a0001c0001t0001g0286 others(14): Show |
21 | HG00642.hp2 HG00738.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.343+958dupA | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901362 | |||||||
| chr14:54901367 | T | C | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.343+954A>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901367 | |||||||
| chr14:54901635 | G | C | 1 | a0001c0001t0001g0274 | 1 | NA19067.hp1 | intron_variant | MODIFIER | c.343+686C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901635 | |||||||
| chr14:54901816 | G | C | 1 | a0001c0003t0001g0302 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.343+505C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901816 | |||||||
| chr14:54901829 | C | T | 4 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0014 others(1): Show |
4 | HG01496.hp1 HG02257.hp1 HG02280.hp1 others(1): Show |
intron_variant | MODIFIER | c.343+492G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901829 | |||||||
| chr14:54901909 | C | T | 138 | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(135): Show |
143 | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(140): Show |
intron_variant | MODIFIER | c.343+412G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901909 | |||||||
| chr14:54901951 | G | T | 1 | a0001c0001t0001g0010 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.343+370C>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901951 | |||||||
| chr14:54901997 | C | A | 6 | a0001c0001t0007g0275 a0001c0001t0007g0276 a0001c0001t0007g0277 others(3): Show |
6 | HG00323.hp2 HG02738.hp1 HG03490.hp2 others(3): Show |
intron_variant | MODIFIER | c.343+324G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54901997 | |||||||
| chr14:54902035 | A | C | 3 | a0001c0001t0013g0007 a0001c0001t0013g0008 a0001c0001t0017g0006 |
3 | HG01243.hp2 HG03486.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.343+286T>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54902035 | |||||||
| chr14:54902038 | C | G | 1 | a0001c0001t0002g0009 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.343+283G>C | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54902038 | |||||||
| chr14:54902177 | G | A | 14 | a0001c0001t0005g0325 a0001c0001t0005g0326 a0001c0001t0005g0327 others(11): Show |
14 | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(11): Show |
intron_variant | MODIFIER | c.343+144C>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54902177 | |||||||
| chr14:54902204 | C | A | 3 | a0001c0001t0011g0281 a0001c0001t0011g0282 a0001c0001t0011g0283 |
3 | NA19030.hp2 NA19240.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.343+117G>T | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54902204 | |||||||
| chr14:54902245 | C | T | 1 | a0001c0001t0026g0284 | 1 | NA18943.hp1 | intron_variant | MODIFIER | c.343+76G>A | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54902245 | |||||||
| chr14:54902268 | G | C | 18 | a0001c0001t0001g0001 a0001c0001t0001g0285 a0001c0001t0001g0286 others(15): Show |
22 | HG00642.hp2 HG00738.hp1 HG01255.hp2 others(19): Show |
intron_variant | MODIFIER | c.343+53C>G | GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | 54902268 |