Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 593 |
| ensemblid | ENSG00000248098.12 |
| hgncid | 986 |
| symbol | BCKDHA |
| name | branched chain keto acid dehydrogenase E1 subunit alpha |
| refseq_nuc | NM_000709.4 |
| refseq_prot | NP_000700.1 |
| ensembl_nuc | ENST00000269980.7 |
| ensembl_prot | ENSP00000269980.2 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 41397818 |
| end | 41425002 |
| strand | + |
| ver | v1.2 |
| region | chr19:41397818-41425002 |
| region5000 | chr19:41392818-41430002 |
| regionname0 | BCKDHA_chr19_41397818_41425002 |
| regionname5000 | BCKDHA_chr19_41392818_41430002 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/0 | 445 | 354 | 92 | 53 | 148 | 14 | 46 | 108 | BCKDHA_chr19_41392818_41430002 | BCKDHA | MAVAI others(440): Show |
chr19 | 41392818 | 41430002 |
| a0002 | 0/1 | 445 | 12 | 0 | 7 | 0 | 2 | 2 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | MAVAI others(440): Show |
chr19 | 41392818 | 41430002 |
| a0003 | 0/0 | 445 | 7 | 0 | 0 | 7 | 0 | 0 | 7 | BCKDHA_chr19_41392818_41430002 | BCKDHA | MAVAI others(440): Show |
chr19 | 41392818 | 41430002 |
| a0004 | 0/0 | 445 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | MAVAI others(440): Show |
chr19 | 41392818 | 41430002 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1335 | 187 | 45 | 29 | 73 | 10 | 30 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0002 | 1/0 | 1335 | 131 | 22 | 22 | 66 | 4 | 16 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0004 | 0/0 | 1335 | 8 | 8 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0006 | 0/0 | 1335 | 7 | 7 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0007 | 0/0 | 1335 | 7 | 0 | 0 | 7 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0008 | 0/0 | 1335 | 6 | 5 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0009 | 0/0 | 1335 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0011 | 0/0 | 1335 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0012 | 0/0 | 1335 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0014 | 0/0 | 1335 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0015 | 0/0 | 1335 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0001c0016 | 0/0 | 1335 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0002c0003 | 0/1 | 1335 | 11 | 0 | 6 | 0 | 2 | 2 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0002c0010 | 0/0 | 1335 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0003c0005 | 0/0 | 1335 | 7 | 0 | 0 | 7 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 | ||
| a0004c0013 | 0/0 | 1335 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | ATGGC others(1330): Show |
chr19 | 41392818 | 41430002 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1742 | 182 | 45 | 29 | 68 | 10 | 30 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0001t0003 | 0/0 | 1742 | 5 | 0 | 0 | 5 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0002t0001 | 1/0 | 1742 | 128 | 22 | 22 | 65 | 4 | 14 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0002t0004 | 0/0 | 1742 | 2 | 0 | 0 | 0 | 0 | 2 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0002t0005 | 0/0 | 1742 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0004t0001 | 0/0 | 1742 | 7 | 7 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0004t0002 | 0/0 | 1742 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0006t0001 | 0/0 | 1742 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0006t0002 | 0/0 | 1742 | 4 | 4 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0007t0001 | 0/0 | 1742 | 7 | 0 | 0 | 7 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0008t0001 | 0/0 | 1742 | 6 | 5 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0009t0001 | 0/0 | 1742 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0011t0001 | 0/0 | 1742 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0012t0001 | 0/0 | 1742 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0014t0001 | 0/0 | 1742 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0015t0001 | 0/0 | 1742 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0001c0016t0001 | 0/0 | 1742 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0002c0003t0001 | 0/1 | 1742 | 11 | 0 | 6 | 0 | 2 | 2 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0002c0010t0001 | 0/0 | 1742 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0003c0005t0001 | 0/0 | 1742 | 7 | 0 | 0 | 7 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| a0004c0013t0001 | 0/0 | 1742 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | GTTAG others(1737): Show |
chr19 | 41392818 | 41430002 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0003 | 0/0 | 12 | 0 | 0 | 9 | 0 | 3 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0006 | 0/0 | 8 | 0 | 1 | 5 | 0 | 2 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0007 | 0/0 | 6 | 0 | 4 | 0 | 1 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0014 | 0/0 | 3 | 0 | 2 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0015 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0016 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0023 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0024 | 0/0 | 2 | 0 | 0 | 1 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0025 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0026 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0027 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0028 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0029 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0030 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0031 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0032 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0034 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0035 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0146 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0170 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0171 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0179 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0193 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0195 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0196 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0198 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0206 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0207 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0226 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0229 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0230 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0231 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0237 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0239 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0240 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0254 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0255 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0001g0265 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0003g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0003g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0003g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0003g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0001t0003g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0001 | 0/0 | 11 | 3 | 0 | 5 | 1 | 2 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0002 | 0/0 | 12 | 1 | 3 | 7 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0004 | 0/0 | 10 | 0 | 2 | 8 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0005 | 0/0 | 9 | 0 | 1 | 8 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0009 | 0/0 | 4 | 1 | 1 | 0 | 1 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0010 | 0/0 | 4 | 0 | 3 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0011 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0012 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0017 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0018 | 1/0 | 2 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0019 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0020 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0021 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0044 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0045 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0049 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0078 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0083 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0100 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0101 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0004g0022 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0002t0005g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0004t0001g0008 | 0/0 | 5 | 5 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0004t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0004t0001g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0004t0002g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0006t0001g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0006t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0006t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0006t0002g0013 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0006t0002g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0007t0001g0038 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0007t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0007t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0007t0001g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0007t0001g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0007t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0008t0001g0040 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0008t0001g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0008t0001g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0008t0001g0262 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0008t0001g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0009t0001g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0009t0001g0257 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0009t0001g0258 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0011t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0012t0001g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0014t0001g0259 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0015t0001g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0001c0016t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0033 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0039 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0184 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0222 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0245 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0250 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0003t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0002c0010t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0003c0005t0001g0036 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0003c0005t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0003c0005t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0003c0005t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0003c0005t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0003c0005t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| a0004c0013t0001g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0002 | t0001 | g0001 | EUR | GBR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00099 | hp2 | a0001 | c0001 | t0001 | g0014 | EUR | GBR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00140 | hp1 | a0001 | c0001 | t0001 | g0189 | EUR | GBR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00140 | hp2 | a0001 | c0001 | t0001 | g0007 | EUR | GBR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00280 | hp1 | a0001 | c0001 | t0001 | g0194 | EUR | FIN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00280 | hp2 | a0001 | c0001 | t0001 | g0024 | EUR | FIN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00323 | hp1 | a0002 | c0003 | t0001 | g0185 | EUR | FIN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00323 | hp2 | a0001 | c0002 | t0001 | g0048 | EUR | FIN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00408 | hp1 | a0001 | c0015 | t0001 | g0051 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00408 | hp2 | a0001 | c0001 | t0001 | g0030 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0215 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00438 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00544 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00558 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00558 | hp2 | a0001 | c0001 | t0001 | g0172 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00609 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00621 | hp1 | a0001 | c0001 | t0001 | g0202 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00621 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00642 | hp1 | a0001 | c0002 | t0001 | g0004 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0031 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00673 | hp1 | a0001 | c0002 | t0001 | g0054 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00673 | hp2 | a0001 | c0002 | t0001 | g0084 | EAS | CHS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00733 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00733 | hp2 | a0001 | c0002 | t0001 | g0049 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00738 | hp1 | a0002 | c0003 | t0001 | g0250 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00738 | hp2 | a0001 | c0001 | t0001 | g0175 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0171 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG00741 | hp2 | a0001 | c0002 | t0001 | g0010 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01070 | hp1 | a0001 | c0002 | t0001 | g0045 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01070 | hp2 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01071 | hp1 | a0001 | c0002 | t0001 | g0078 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0027 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01074 | hp1 | a0002 | c0003 | t0001 | g0182 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0239 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01081 | hp1 | a0002 | c0003 | t0001 | g0033 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01081 | hp2 | a0002 | c0003 | t0001 | g0251 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01106 | hp1 | a0001 | c0002 | t0001 | g0009 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01106 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0160 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01109 | hp2 | a0001 | c0008 | t0001 | g0262 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0229 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01168 | hp2 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01169 | hp1 | a0001 | c0001 | t0001 | g0230 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01169 | hp2 | a0001 | c0002 | t0001 | g0081 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01175 | hp1 | a0001 | c0002 | t0001 | g0002 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0170 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01192 | hp1 | a0001 | c0001 | t0001 | g0159 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01192 | hp2 | a0002 | c0003 | t0001 | g0033 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01243 | hp1 | a0002 | c0003 | t0001 | g0039 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01243 | hp2 | a0001 | c0002 | t0001 | g0021 | AMR | PUR | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01255 | hp1 | a0001 | c0002 | t0001 | g0083 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0164 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01256 | hp1 | a0001 | c0002 | t0001 | g0061 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01256 | hp2 | a0001 | c0001 | t0001 | g0226 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01257 | hp1 | a0001 | c0002 | t0001 | g0010 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01257 | hp2 | a0002 | c0010 | t0001 | g0183 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01258 | hp1 | a0001 | c0002 | t0001 | g0010 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01258 | hp2 | a0001 | c0001 | t0001 | g0227 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01261 | hp2 | a0001 | c0001 | t0001 | g0240 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01346 | hp1 | a0001 | c0002 | t0001 | g0066 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01346 | hp2 | a0001 | c0001 | t0001 | g0030 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01358 | hp1 | a0001 | c0002 | t0001 | g0018 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0166 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01433 | hp1 | a0001 | c0002 | t0001 | g0020 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01433 | hp2 | a0001 | c0001 | t0001 | g0224 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0231 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01496 | hp2 | a0001 | c0002 | t0001 | g0087 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01516 | hp1 | a0001 | c0002 | t0001 | g0009 | EUR | IBS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0119 | EUR | IBS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0167 | EUR | IBS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01517 | hp2 | a0001 | c0001 | t0001 | g0146 | EUR | IBS | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01884 | hp1 | a0001 | c0001 | t0001 | g0116 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0216 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01891 | hp1 | a0001 | c0002 | t0001 | g0017 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01891 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01934 | hp1 | a0001 | c0002 | t0001 | g0075 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01934 | hp2 | a0001 | c0001 | t0001 | g0014 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01975 | hp1 | a0001 | c0001 | t0001 | g0014 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01975 | hp2 | a0001 | c0002 | t0001 | g0005 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01978 | hp1 | a0001 | c0002 | t0001 | g0002 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01978 | hp2 | a0001 | c0001 | t0001 | g0163 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01981 | hp1 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01981 | hp2 | a0001 | c0002 | t0001 | g0004 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02015 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02015 | hp2 | a0001 | c0001 | t0001 | g0149 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02027 | hp1 | a0001 | c0001 | t0001 | g0134 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02027 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0088 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02055 | hp1 | a0001 | c0001 | t0001 | g0110 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02055 | hp2 | a0001 | c0001 | t0001 | g0264 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02056 | hp1 | a0001 | c0002 | t0001 | g0062 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02056 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02074 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02080 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02080 | hp2 | a0001 | c0002 | t0001 | g0019 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02083 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02083 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02129 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02129 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02132 | hp2 | a0001 | c0001 | t0001 | g0037 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02145 | hp1 | a0001 | c0001 | t0001 | g0162 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02145 | hp2 | a0001 | c0002 | t0001 | g0093 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02165 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | CDX | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02165 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | CDX | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02257 | hp1 | a0001 | c0001 | t0001 | g0232 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02257 | hp2 | a0001 | c0006 | t0001 | g0114 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02258 | hp1 | a0001 | c0002 | t0001 | g0058 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02258 | hp2 | a0001 | c0004 | t0001 | g0008 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0244 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02280 | hp2 | a0001 | c0001 | t0001 | g0217 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02293 | hp1 | a0001 | c0001 | t0001 | g0034 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02293 | hp2 | a0001 | c0002 | t0001 | g0002 | AMR | PEL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02451 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02451 | hp2 | a0001 | c0001 | t0001 | g0180 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02523 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02523 | hp2 | a0001 | c0001 | t0003 | g0150 | EAS | KHV | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02572 | hp1 | a0001 | c0001 | t0001 | g0025 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02572 | hp2 | a0001 | c0008 | t0001 | g0040 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0188 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02602 | hp2 | a0002 | c0003 | t0001 | g0184 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02615 | hp1 | a0001 | c0001 | t0001 | g0265 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02615 | hp2 | a0001 | c0002 | t0001 | g0011 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02622 | hp1 | a0001 | c0001 | t0001 | g0109 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02622 | hp2 | a0001 | c0002 | t0001 | g0002 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02630 | hp1 | a0001 | c0001 | t0001 | g0112 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02630 | hp2 | a0001 | c0009 | t0001 | g0258 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0190 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02683 | hp2 | a0001 | c0002 | t0001 | g0228 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02698 | hp1 | a0001 | c0001 | t0001 | g0201 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0143 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02723 | hp1 | a0001 | c0004 | t0001 | g0106 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02723 | hp2 | a0001 | c0002 | t0001 | g0102 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02735 | hp1 | a0001 | c0001 | t0001 | g0186 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02735 | hp2 | a0001 | c0001 | t0001 | g0126 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0169 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02738 | hp2 | a0001 | c0002 | t0001 | g0077 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02809 | hp1 | a0001 | c0001 | t0001 | g0120 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02809 | hp2 | a0001 | c0002 | t0001 | g0001 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02818 | hp1 | a0001 | c0002 | t0001 | g0011 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02818 | hp2 | a0001 | c0014 | t0001 | g0259 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0136 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02886 | hp2 | a0001 | c0006 | t0002 | g0013 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02895 | hp1 | a0001 | c0004 | t0001 | g0008 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02895 | hp2 | a0001 | c0001 | t0001 | g0193 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02897 | hp1 | a0001 | c0001 | t0001 | g0177 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02897 | hp2 | a0001 | c0001 | t0001 | g0181 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02922 | hp1 | a0001 | c0004 | t0001 | g0008 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02922 | hp2 | a0001 | c0001 | t0001 | g0032 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02965 | hp1 | a0001 | c0009 | t0001 | g0256 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02965 | hp2 | a0001 | c0004 | t0001 | g0008 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02970 | hp1 | a0001 | c0002 | t0001 | g0001 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02970 | hp2 | a0001 | c0001 | t0001 | g0233 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02976 | hp1 | a0001 | c0001 | t0001 | g0254 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02976 | hp2 | a0001 | c0008 | t0001 | g0040 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03017 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03017 | hp2 | a0001 | c0001 | t0001 | g0148 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03041 | hp1 | a0001 | c0001 | t0001 | g0173 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03098 | hp1 | a0001 | c0002 | t0001 | g0042 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03098 | hp2 | a0001 | c0001 | t0001 | g0025 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03130 | hp1 | a0001 | c0002 | t0001 | g0059 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03130 | hp2 | a0001 | c0006 | t0002 | g0113 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0122 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03139 | hp2 | a0001 | c0002 | t0001 | g0072 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03195 | hp1 | a0001 | c0006 | t0002 | g0013 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03195 | hp2 | a0001 | c0004 | t0001 | g0103 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03209 | hp1 | a0001 | c0001 | t0001 | g0178 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03209 | hp2 | a0001 | c0002 | t0001 | g0067 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03225 | hp1 | a0001 | c0001 | t0001 | g0015 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03225 | hp2 | a0001 | c0002 | t0001 | g0057 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03239 | hp1 | a0001 | c0001 | t0001 | g0219 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03239 | hp2 | a0001 | c0002 | t0001 | g0009 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03453 | hp1 | a0001 | c0001 | t0001 | g0032 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03453 | hp2 | a0001 | c0011 | t0001 | g0248 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03486 | hp1 | a0001 | c0006 | t0001 | g0115 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03486 | hp2 | a0001 | c0001 | t0001 | g0016 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03490 | hp1 | a0001 | c0001 | t0001 | g0196 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03490 | hp2 | a0001 | c0002 | t0001 | g0056 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03492 | hp1 | a0001 | c0001 | t0001 | g0199 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03492 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0111 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0225 | AFR | ESN | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03540 | hp1 | a0001 | c0004 | t0002 | g0105 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03540 | hp2 | a0001 | c0008 | t0001 | g0263 | AFR | GWD | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03579 | hp1 | a0001 | c0004 | t0001 | g0008 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03579 | hp2 | a0001 | c0001 | t0001 | g0247 | AFR | MSL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03654 | hp1 | a0001 | c0002 | t0001 | g0055 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03654 | hp2 | a0001 | c0002 | t0001 | g0100 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03669 | hp1 | a0001 | c0001 | t0001 | g0007 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03669 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03688 | hp1 | a0001 | c0002 | t0004 | g0022 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03688 | hp2 | a0001 | c0001 | t0001 | g0006 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03704 | hp1 | a0001 | c0002 | t0001 | g0065 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03704 | hp2 | a0001 | c0001 | t0001 | g0028 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03710 | hp1 | a0001 | c0002 | t0001 | g0002 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03710 | hp2 | a0001 | c0001 | t0001 | g0034 | SAS | PJL | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0237 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03831 | hp2 | a0001 | c0002 | t0001 | g0063 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03834 | hp1 | a0001 | c0001 | t0001 | g0161 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0156 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0010 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0191 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03942 | hp1 | a0001 | c0002 | t0001 | g0101 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG03942 | hp2 | a0001 | c0001 | t0001 | g0187 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0212 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0179 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04184 | hp1 | a0001 | c0001 | t0001 | g0207 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04184 | hp2 | a0002 | c0003 | t0001 | g0222 | SAS | BEB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04199 | hp1 | a0001 | c0001 | t0001 | g0165 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0174 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0003 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04204 | hp2 | a0001 | c0001 | t0001 | g0168 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04228 | hp1 | a0001 | c0002 | t0004 | g0022 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG04228 | hp2 | a0001 | c0001 | t0001 | g0003 | SAS | STU | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18522 | hp1 | a0001 | c0002 | t0001 | g0011 | AFR | YRI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18522 | hp2 | a0001 | c0002 | t0001 | g0017 | AFR | YRI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | CHB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0157 | EAS | CHB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18747 | hp1 | a0001 | c0002 | t0001 | g0012 | EAS | CHB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | CHB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18906 | hp1 | a0001 | c0002 | t0001 | g0089 | AFR | YRI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18906 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | YRI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18939 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18939 | hp2 | a0003 | c0005 | t0001 | g0218 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18940 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18942 | hp1 | a0001 | c0002 | t0005 | g0012 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18943 | hp1 | a0001 | c0001 | t0001 | g0133 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18943 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18944 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18944 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18945 | hp1 | a0001 | c0007 | t0001 | g0235 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18945 | hp2 | a0001 | c0001 | t0001 | g0204 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18947 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18947 | hp2 | a0001 | c0001 | t0003 | g0152 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18950 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18950 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18953 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18953 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18954 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18954 | hp2 | a0003 | c0005 | t0001 | g0036 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18959 | hp1 | a0001 | c0002 | t0001 | g0046 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18959 | hp2 | a0001 | c0001 | t0001 | g0213 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18960 | hp1 | a0001 | c0001 | t0001 | g0223 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18960 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18961 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18961 | hp2 | a0001 | c0002 | t0001 | g0082 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18963 | hp1 | a0001 | c0002 | t0001 | g0080 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0198 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18964 | hp1 | a0001 | c0002 | t0001 | g0047 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0127 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18965 | hp1 | a0001 | c0002 | t0001 | g0085 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18966 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18966 | hp2 | a0001 | c0001 | t0001 | g0206 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18967 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18967 | hp2 | a0001 | c0007 | t0001 | g0234 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18969 | hp2 | a0001 | c0002 | t0001 | g0076 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18971 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18972 | hp1 | a0001 | c0002 | t0001 | g0095 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18977 | hp2 | a0001 | c0001 | t0001 | g0208 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18979 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18979 | hp2 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18982 | hp1 | a0001 | c0002 | t0001 | g0074 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18982 | hp2 | a0001 | c0007 | t0001 | g0121 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0004 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18983 | hp2 | a0001 | c0002 | t0001 | g0053 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18984 | hp1 | a0001 | c0002 | t0001 | g0052 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18984 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18985 | hp1 | a0001 | c0007 | t0001 | g0236 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18985 | hp2 | a0001 | c0002 | t0001 | g0092 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18986 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18986 | hp2 | a0001 | c0002 | t0001 | g0050 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18988 | hp1 | a0001 | c0007 | t0001 | g0038 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18988 | hp2 | a0001 | c0002 | t0001 | g0019 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18989 | hp1 | a0003 | c0005 | t0001 | g0037 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18989 | hp2 | a0001 | c0001 | t0001 | g0125 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18990 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18990 | hp2 | a0001 | c0012 | t0001 | g0004 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0029 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18991 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18993 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18993 | hp2 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18999 | hp1 | a0001 | c0002 | t0001 | g0002 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18999 | hp2 | a0001 | c0001 | t0003 | g0153 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19000 | hp1 | a0001 | c0002 | t0001 | g0096 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19000 | hp2 | a0001 | c0002 | t0001 | g0099 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19002 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19002 | hp2 | a0003 | c0005 | t0001 | g0220 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19003 | hp1 | a0001 | c0001 | t0001 | g0211 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19003 | hp2 | a0001 | c0002 | t0001 | g0064 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19006 | hp1 | a0001 | c0002 | t0001 | g0090 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19006 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19009 | hp1 | a0001 | c0002 | t0001 | g0098 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19009 | hp2 | a0003 | c0005 | t0001 | g0221 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0195 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19010 | hp2 | a0003 | c0005 | t0001 | g0241 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19030 | hp1 | a0001 | c0001 | t0001 | g0255 | AFR | LWK | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19030 | hp2 | a0001 | c0008 | t0001 | g0260 | AFR | LWK | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19043 | hp1 | a0001 | c0002 | t0001 | g0001 | AFR | LWK | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19043 | hp2 | a0001 | c0001 | t0001 | g0026 | AFR | LWK | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19056 | hp1 | a0001 | c0002 | t0001 | g0086 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19056 | hp2 | a0001 | c0001 | t0003 | g0151 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19057 | hp1 | a0001 | c0007 | t0001 | g0238 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19057 | hp2 | a0001 | c0002 | t0001 | g0097 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19060 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19060 | hp2 | a0004 | c0013 | t0001 | g0001 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19062 | hp1 | a0001 | c0002 | t0001 | g0073 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19062 | hp2 | a0001 | c0001 | t0001 | g0209 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19063 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19063 | hp2 | a0001 | c0001 | t0001 | g0210 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19066 | hp2 | a0001 | c0007 | t0001 | g0038 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19068 | hp1 | a0001 | c0002 | t0001 | g0091 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19068 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19070 | hp1 | a0001 | c0002 | t0001 | g0068 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19070 | hp2 | a0001 | c0001 | t0001 | g0023 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19074 | hp1 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19074 | hp2 | a0003 | c0005 | t0001 | g0036 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19075 | hp1 | a0001 | c0001 | t0003 | g0117 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19075 | hp2 | a0001 | c0002 | t0001 | g0094 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19077 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19077 | hp2 | a0001 | c0002 | t0001 | g0044 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19082 | hp1 | a0001 | c0002 | t0001 | g0070 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19082 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19085 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19086 | hp2 | a0001 | c0002 | t0001 | g0079 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19088 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19088 | hp2 | a0001 | c0002 | t0001 | g0107 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19090 | hp1 | a0001 | c0001 | t0001 | g0024 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19090 | hp2 | a0001 | c0002 | t0001 | g0021 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0028 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19091 | hp2 | a0001 | c0002 | t0001 | g0012 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19240 | hp1 | a0001 | c0001 | t0001 | g0031 | AFR | YRI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA19240 | hp2 | a0001 | c0002 | t0001 | g0041 | AFR | YRI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0249 | AFR | ASW | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0246 | AFR | ASW | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0192 | EUR | TSI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20752 | hp2 | a0001 | c0002 | t0001 | g0069 | EUR | TSI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20805 | hp1 | a0002 | c0003 | t0001 | g0039 | EUR | TSI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20805 | hp2 | a0001 | c0001 | t0001 | g0147 | EUR | TSI | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20905 | hp1 | a0001 | c0002 | t0001 | g0060 | SAS | GIH | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | GIH | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01123 | hp1 | a0001 | c0016 | t0001 | g0104 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02109 | hp1 | a0001 | c0009 | t0001 | g0257 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02109 | hp2 | a0001 | c0006 | t0001 | g0137 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02486 | hp1 | a0001 | c0002 | t0001 | g0020 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02486 | hp2 | a0001 | c0006 | t0002 | g0013 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02559 | hp1 | a0001 | c0001 | t0001 | g0108 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG02559 | hp2 | a0001 | c0002 | t0001 | g0009 | AFR | ACB | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0176 | AFR | USA | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| HG06807 | hp2 | a0001 | c0002 | t0001 | g0071 | AFR | USA | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18955 | hp1 | a0001 | c0002 | t0001 | g0043 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA18955 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0135 | AFR | USA | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0015 | AFR | USA | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA21309 | hp1 | a0001 | c0001 | t0001 | g0016 | AFR | LWK | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| NA21309 | hp2 | a0001 | c0008 | t0001 | g0261 | AFR | LWK | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| homoSapiens | chm13v2 | a0002 | c0003 | t0001 | g0245 | REF | REF | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| homoSapiens | grch38p0 | a0001 | c0002 | t0001 | g0018 | REF | REF | BCKDHA_chr19_41392818_41430002 | BCKDHA | chr19 | 41392818 | 41430002 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:41410644 | C | A | 1 | a0002 | 11 | HG00323.hp1 HG00738.hp1 HG01074.hp1 others(8): Show |
missense_variant | MODERATE | c.116C>A | p.Pro39His | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2/9 | 126/1742 | 116/1338 | 39/445 | chr19 | 41410644 | |||
| chr19:41423072 | A | G | 1 | a0004 | 1 | NA19060.hp2 | missense_variant | MODERATE | c.1070A>G | p.Gln357Arg | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/9 | 1080/1742 | 1070/1338 | 357/445 | chr19 | 41423072 | |||
| chr19:41424481 | A | G | 1 | a0003 | 7 | NA18939.hp2 NA18954.hp2 NA18989.hp1 others(4): Show |
missense_variant | MODERATE | c.1211A>G | p.Asn404Ser | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 1221/1742 | 1211/1338 | 404/445 | chr19 | 41424481 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:41397842 | C | T | 1 | a0001c0007 | 7 | NA18945.hp1 NA18967.hp2 NA18982.hp2 others(4): Show |
synonymous_variant | LOW | c.15C>T | p.Ile5Ile | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/9 | 25/1742 | 15/1338 | 5/445 | chr19 | 41397842 | |||
| chr19:41397861 | C | A | 1 | a0002c0010 | 1 | HG01257.hp2 | synonymous_variant | LOW | c.34C>A | p.Arg12Arg | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/9 | 44/1742 | 34/1338 | 12/445 | chr19 | 41397861 | |||
| chr19:41397890 | C | T | 1 | a0001c0016 | 1 | HG01123.hp1 | synonymous_variant | LOW | c.63C>T | p.Ala21Ala | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/9 | 73/1742 | 63/1338 | 21/445 | chr19 | 41397890 | |||
| chr19:41410642 | C | G | 1 | a0001c0009 | 3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
synonymous_variant | LOW | c.114C>G | p.Pro38Pro | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2/9 | 124/1742 | 114/1338 | 38/445 | chr19 | 41410642 | |||
| chr19:41410642 | C | T | 2 | a0001c0004 a0001c0016 |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
synonymous_variant | LOW | c.114C>T | p.Pro38Pro | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2/9 | 124/1742 | 114/1338 | 38/445 | chr19 | 41410642 | |||
| chr19:41414075 | C | T | 1 | a0001c0015 | 1 | HG00408.hp1 | synonymous_variant | LOW | c.402C>T | p.Asn134Asn | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/9 | 412/1742 | 402/1338 | 134/445 | chr19 | 41414075 | |||
| chr19:41419289 | C | T | 1 | a0001c0006 | 7 | HG02109.hp2 HG02257.hp2 HG02486.hp2 others(4): Show |
synonymous_variant | LOW | c.639C>T | p.Ile213Ile | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/9 | 649/1742 | 639/1338 | 213/445 | chr19 | 41419289 | |||
| chr19:41422165 | G | A | 1 | a0001c0011 | 1 | HG03453.hp2 | splice_region_variant&synonymous_variant | LOW | c.648G>A | p.Ala216Ala | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/9 | 658/1742 | 648/1338 | 216/445 | chr19 | 41422165 | |||
| chr19:41422165 | G | T | 1 | a0001c0014 | 1 | HG02818.hp2 | splice_region_variant&synonymous_variant | LOW | c.648G>T | p.Ala216Ala | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/9 | 658/1742 | 648/1338 | 216/445 | chr19 | 41422165 | |||
| chr19:41422747 | C | T | 12 | a0001c0001 a0001c0004 a0001c0006 others(9): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
synonymous_variant | LOW | c.972C>T | p.Phe324Phe | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/9 | 982/1742 | 972/1338 | 324/445 | chr19 | 41422747 | |||
| chr19:41424491 | A | G | 13 | a0001c0001 a0001c0004 a0001c0006 others(10): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
synonymous_variant | LOW | c.1221A>G | p.Leu407Leu | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 1231/1742 | 1221/1338 | 407/445 | chr19 | 41424491 | |||
| chr19:41424530 | C | T | 2 | a0001c0008 a0001c0014 |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
synonymous_variant | LOW | c.1260C>T | p.Leu420Leu | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 1270/1742 | 1260/1338 | 420/445 | chr19 | 41424530 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:41424625 | C | T | 1 | a0001c0002t0004 | 2 | HG03688.hp1 HG04228.hp1 |
3_prime_UTR_variant | MODIFIER | c.*17C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 17 | chr19 | 41424625 | ||||||
| chr19:41424742 | C | T | 1 | a0001c0001t0003 | 5 | HG02523.hp2 NA18947.hp2 NA18999.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*134C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 134 | chr19 | 41424742 | ||||||
| chr19:41424917 | A | G | 2 | a0001c0004t0002 a0001c0006t0002 |
5 | HG02486.hp2 HG02886.hp2 HG03130.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*309A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 309 | chr19 | 41424917 | ||||||
| chr19:41424992 | C | T | 1 | a0001c0002t0005 | 1 | NA18942.hp1 | 3_prime_UTR_variant | MODIFIER | c.*384C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 9/9 | 384 | chr19 | 41424992 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr19:41398180 | C | T | 2 | a0001c0001t0001g0264 a0001c0001t0001g0265 |
2 | HG02055.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.108+245C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398180 | |||||||
| chr19:41398260 | C | T | 183 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(180): Show |
231 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(228): Show |
intron_variant | MODIFIER | c.108+325C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398260 | |||||||
| chr19:41398336 | C | T | 1 | a0001c0002t0001g0107 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.108+401C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398336 | |||||||
| chr19:41398378 | A | C | 4 | a0001c0008t0001g0040 a0001c0008t0001g0261 a0001c0008t0001g0262 others(1): Show |
5 | HG01109.hp2 HG02572.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.108+443A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398378 | |||||||
| chr19:41398400 | T | C | 10 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(7): Show |
12 | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.108+465T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398400 | |||||||
| chr19:41398446 | A | G | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+511A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398446 | |||||||
| chr19:41398491 | A | G | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.108+556A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398491 | |||||||
| chr19:41398661 | A | T | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.108+726A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398661 | |||||||
| chr19:41398709 | A | G | 2 | a0001c0002t0001g0100 a0001c0002t0001g0101 |
2 | HG03654.hp2 HG03942.hp1 |
intron_variant | MODIFIER | c.108+774A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398709 | |||||||
| chr19:41398743 | G | T | 1 | a0001c0001t0001g0116 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.108+808G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398743 | |||||||
| chr19:41398835 | GC | G | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.108+902delC | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41398835 | ||||||
| chr19:41398998 | A | T | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.108+1063A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41398998 | |||||||
| chr19:41399012 | A | G | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.108+1077A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399012 | |||||||
| chr19:41399331 | C | CT | 9 | a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 others(6): Show |
9 | HG02109.hp1 HG02145.hp2 HG02630.hp2 others(6): Show |
intron_variant | MODIFIER | c.108+1418dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41399331 | ||||||
| chr19:41399331 | CT | C | 162 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(159): Show |
211 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(208): Show |
intron_variant | MODIFIER | c.108+1418delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41399331 | ||||||
| chr19:41399331 | CTT | C | 14 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(11): Show |
18 | HG01123.hp1 HG01168.hp2 HG01516.hp2 others(15): Show |
intron_variant | MODIFIER | c.108+1417_108+1418d others(4): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41399331 | ||||||
| chr19:41399437 | G | A | 1 | a0001c0002t0001g0041 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.108+1502G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399437 | |||||||
| chr19:41399635 | C | T | 183 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(180): Show |
231 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(228): Show |
intron_variant | MODIFIER | c.108+1700C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399635 | |||||||
| chr19:41399716 | CCCTTT | C | 7 | a0001c0002t0001g0099 a0001c0008t0001g0040 a0001c0008t0001g0260 others(4): Show |
8 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.108+1797_108+1801d others(7): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41399716 | ||||||
| chr19:41399756 | C | G | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.108+1821C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399756 | |||||||
| chr19:41399772 | C | T | 2 | a0001c0002t0001g0009 a0001c0002t0001g0010 |
8 | HG00741.hp2 HG01106.hp1 HG01257.hp1 others(5): Show |
intron_variant | MODIFIER | c.108+1837C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399772 | |||||||
| chr19:41399844 | A | G | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.108+1909A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399844 | |||||||
| chr19:41399861 | C | T | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.108+1926C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399861 | |||||||
| chr19:41399878 | C | T | 1 | a0001c0001t0001g0243 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.108+1943C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399878 | |||||||
| chr19:41399879 | G | A | 1 | a0001c0001t0001g0122 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.108+1944G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399879 | |||||||
| chr19:41399968 | T | C | 1 | a0001c0002t0001g0048 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.108+2033T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41399968 | |||||||
| chr19:41400060 | C | T | 3 | a0001c0004t0001g0008 a0001c0004t0001g0106 a0001c0004t0002g0105 |
7 | HG02258.hp2 HG02723.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.108+2125C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400060 | |||||||
| chr19:41400212 | A | G | 1 | a0001c0001t0001g0242 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.108+2277A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400212 | |||||||
| chr19:41400240 | A | AT | 8 | a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 others(5): Show |
9 | HG01109.hp2 HG02572.hp2 HG02976.hp2 others(6): Show |
intron_variant | MODIFIER | c.108+2322dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41400240 | ||||||
| chr19:41400240 | AT | A | 10 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 others(7): Show |
14 | HG01123.hp1 HG02258.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.108+2322delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41400240 | ||||||
| chr19:41400302 | C | T | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+2367C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400302 | |||||||
| chr19:41400357 | A | G | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+2422A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400357 | |||||||
| chr19:41400365 | A | G | 189 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(186): Show |
241 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.108+2430A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400365 | |||||||
| chr19:41400470 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.108+2535T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400470 | |||||||
| chr19:41400492 | G | T | 2 | a0001c0001t0001g0126 a0001c0001t0001g0240 |
2 | HG01261.hp2 HG02735.hp2 |
intron_variant | MODIFIER | c.108+2557G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400492 | |||||||
| chr19:41400518 | G | A | 1 | a0001c0001t0001g0127 | 1 | NA18964.hp2 | intron_variant | MODIFIER | c.108+2583G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400518 | |||||||
| chr19:41400531 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.108+2596T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400531 | |||||||
| chr19:41400541 | C | T | 1 | a0001c0007t0001g0238 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.108+2606C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400541 | |||||||
| chr19:41400583 | C | T | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.108+2648C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400583 | |||||||
| chr19:41400724 | A | G | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.108+2789A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400724 | |||||||
| chr19:41400934 | C | T | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.108+2999C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400934 | |||||||
| chr19:41400991 | G | T | 1 | a0001c0001t0001g0237 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.108+3056G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41400991 | |||||||
| chr19:41401017 | A | G | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+3082A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401017 | |||||||
| chr19:41401075 | TTTTG | T | 4 | a0001c0008t0001g0040 a0001c0008t0001g0261 a0001c0008t0001g0262 others(1): Show |
5 | HG01109.hp2 HG02572.hp2 HG02976.hp2 others(2): Show |
intron_variant | MODIFIER | c.108+3144_108+3147d others(6): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41401075 | ||||||
| chr19:41401079 | G | GT | 179 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(176): Show |
226 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(223): Show |
intron_variant | MODIFIER | c.108+3150dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41401079 | ||||||
| chr19:41401093 | C | T | 1 | a0001c0002t0001g0089 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.108+3158C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401093 | |||||||
| chr19:41401094 | G | T | 1 | a0001c0002t0001g0088 | 1 | HG02040.hp2 | intron_variant | MODIFIER | c.108+3159G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401094 | |||||||
| chr19:41401174 | T | A | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(1): Show |
4 | HG02055.hp1 HG02559.hp1 HG02622.hp1 others(1): Show |
intron_variant | MODIFIER | c.108+3239T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401174 | |||||||
| chr19:41401328 | G | A | 2 | a0001c0006t0002g0013 a0001c0006t0002g0113 |
4 | HG02486.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.108+3393G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401328 | |||||||
| chr19:41401351 | C | T | 6 | a0001c0007t0001g0038 a0001c0007t0001g0121 a0001c0007t0001g0234 others(3): Show |
7 | NA18945.hp1 NA18967.hp2 NA18982.hp2 others(4): Show |
intron_variant | MODIFIER | c.108+3416C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401351 | |||||||
| chr19:41401480 | T | C | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.108+3545T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401480 | |||||||
| chr19:41401543 | A | C | 1 | a0001c0002t0001g0099 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.108+3608A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401543 | |||||||
| chr19:41401576 | T | C | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+3641T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401576 | |||||||
| chr19:41401593 | C | T | 1 | a0001c0002t0001g0087 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.108+3658C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401593 | |||||||
| chr19:41401616 | T | A | 9 | a0001c0001t0001g0023 a0001c0001t0001g0127 a0001c0001t0001g0128 others(6): Show |
10 | HG02027.hp1 HG02165.hp2 NA18940.hp2 others(7): Show |
intron_variant | MODIFIER | c.108+3681T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401616 | |||||||
| chr19:41401644 | A | C | 1 | a0001c0001t0001g0240 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.108+3709A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401644 | |||||||
| chr19:41401650 | G | A | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.108+3715G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401650 | |||||||
| chr19:41401770 | C | A | 6 | a0001c0001t0001g0122 a0001c0001t0001g0135 a0001c0001t0001g0136 others(3): Show |
6 | HG02886.hp1 HG03139.hp1 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.108+3835C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41401770 | |||||||
| chr19:41402043 | A | G | 266 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(263): Show |
370 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(367): Show |
intron_variant | MODIFIER | c.108+4108A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402043 | |||||||
| chr19:41402198 | C | G | 10 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(7): Show |
12 | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.108+4263C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402198 | |||||||
| chr19:41402272 | A | G | 1 | a0001c0006t0002g0113 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.108+4337A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402272 | |||||||
| chr19:41402389 | T | A | 1 | a0001c0002t0001g0050 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.108+4454T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402389 | |||||||
| chr19:41402535 | G | C | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+4600G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402535 | |||||||
| chr19:41402774 | G | A | 1 | a0001c0006t0001g0114 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.108+4839G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402774 | |||||||
| chr19:41402808 | T | A | 1 | a0001c0015t0001g0051 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.108+4873T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402808 | |||||||
| chr19:41402854 | T | C | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+4919T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402854 | |||||||
| chr19:41402869 | G | T | 3 | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 |
3 | HG01496.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.108+4934G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402869 | |||||||
| chr19:41402912 | GT | G | 2 | a0001c0006t0002g0013 a0001c0006t0002g0113 |
4 | HG02486.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.108+4979delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41402912 | ||||||
| chr19:41402924 | AG | A | 21 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(18): Show |
24 | HG01109.hp2 HG01884.hp1 HG02055.hp1 others(21): Show |
intron_variant | MODIFIER | c.108+4990delG | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402924 | |||||||
| chr19:41402948 | T | G | 2 | a0001c0009t0001g0256 a0001c0009t0001g0257 |
2 | HG02109.hp1 HG02965.hp1 |
intron_variant | MODIFIER | c.108+5013T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402948 | |||||||
| chr19:41402966 | G | A | 168 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(165): Show |
215 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(212): Show |
intron_variant | MODIFIER | c.108+5031G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41402966 | |||||||
| chr19:41403031 | T | A | 186 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(183): Show |
238 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show |
intron_variant | MODIFIER | c.108+5096T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403031 | |||||||
| chr19:41403174 | C | T | 1 | a0001c0006t0001g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.108+5239C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403174 | |||||||
| chr19:41403279 | C | T | 1 | a0001c0008t0001g0260 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.108+5344C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403279 | |||||||
| chr19:41403378 | G | A | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.108+5443G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403378 | |||||||
| chr19:41403441 | A | G | 181 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(178): Show |
229 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(226): Show |
intron_variant | MODIFIER | c.108+5506A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403441 | |||||||
| chr19:41403447 | G | A | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.108+5512G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403447 | |||||||
| chr19:41403565 | C | T | 1 | a0001c0004t0002g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.108+5630C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403565 | |||||||
| chr19:41403682 | A | T | 1 | a0001c0001t0001g0225 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.108+5747A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403682 | |||||||
| chr19:41403742 | C | T | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.108+5807C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403742 | |||||||
| chr19:41403756 | G | A | 7 | a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 others(4): Show |
7 | HG02523.hp1 HG02698.hp2 NA18747.hp2 others(4): Show |
intron_variant | MODIFIER | c.108+5821G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403756 | |||||||
| chr19:41403777 | C | T | 3 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0011t0001g0248 |
3 | HG03453.hp2 HG03579.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.108+5842C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403777 | |||||||
| chr19:41403811 | C | T | 1 | a0001c0001t0001g0224 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.108+5876C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403811 | |||||||
| chr19:41403814 | G | A | 2 | a0001c0001t0001g0146 a0001c0001t0001g0147 |
2 | HG01517.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.108+5879G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41403814 | |||||||
| chr19:41404043 | G | A | 1 | a0001c0001t0001g0148 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.108+6108G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404043 | |||||||
| chr19:41404138 | C | A | 2 | a0001c0002t0001g0019 a0001c0002t0001g0052 |
3 | HG02080.hp2 NA18984.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.108+6203C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404138 | |||||||
| chr19:41404337 | T | A | 1 | a0001c0001t0001g0149 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.109-6300T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404337 | |||||||
| chr19:41404385 | G | A | 5 | a0001c0001t0003g0117 a0001c0001t0003g0150 a0001c0001t0003g0151 others(2): Show |
5 | HG02523.hp2 NA18947.hp2 NA18999.hp2 others(2): Show |
intron_variant | MODIFIER | c.109-6252G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404385 | |||||||
| chr19:41404414 | C | T | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.109-6223C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404414 | |||||||
| chr19:41404510 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.109-6127C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404510 | |||||||
| chr19:41404568 | C | T | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.109-6069C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404568 | |||||||
| chr19:41404712 | G | A | 182 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(179): Show |
230 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(227): Show |
intron_variant | MODIFIER | c.109-5925G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404712 | |||||||
| chr19:41404893 | G | A | 1 | a0001c0002t0001g0098 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.109-5744G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41404893 | |||||||
| chr19:41405115 | T | C | 5 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(2): Show |
5 | HG02055.hp1 HG02559.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.109-5522T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405115 | |||||||
| chr19:41405135 | C | G | 182 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(179): Show |
230 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(227): Show |
intron_variant | MODIFIER | c.109-5502C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405135 | |||||||
| chr19:41405195 | C | A | 1 | a0001c0008t0001g0261 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.109-5442C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405195 | |||||||
| chr19:41405264 | A | C | 1 | a0001c0001t0001g0145 | 1 | HG02523.hp1 | intron_variant | MODIFIER | c.109-5373A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405264 | |||||||
| chr19:41405524 | C | T | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.109-5113C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405524 | |||||||
| chr19:41405543 | T | A | 1 | a0001c0002t0001g0053 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.109-5094T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405543 | |||||||
| chr19:41405600 | A | T | 1 | a0001c0006t0002g0013 | 3 | HG02486.hp2 HG02886.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.109-5037A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405600 | |||||||
| chr19:41405629 | T | G | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.109-5008T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405629 | |||||||
| chr19:41405787 | A | T | 1 | a0001c0001t0001g0223 | 1 | NA18960.hp1 | intron_variant | MODIFIER | c.109-4850A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405787 | |||||||
| chr19:41405803 | A | G | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.109-4834A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405803 | |||||||
| chr19:41405939 | C | T | 1 | a0002c0003t0001g0222 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.109-4698C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405939 | |||||||
| chr19:41405963 | C | T | 1 | a0001c0006t0001g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.109-4674C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41405963 | |||||||
| chr19:41406046 | G | A | 1 | a0001c0002t0001g0054 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.109-4591G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406046 | |||||||
| chr19:41406075 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.109-4562T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406075 | |||||||
| chr19:41406187 | G | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.109-4450G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406187 | |||||||
| chr19:41406280 | C | T | 1 | a0001c0001t0001g0144 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.109-4357C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406280 | |||||||
| chr19:41406303 | C | T | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.109-4334C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406303 | |||||||
| chr19:41406345 | C | T | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.109-4292C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406345 | |||||||
| chr19:41406365 | C | T | 161 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(158): Show |
206 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
intron_variant | MODIFIER | c.109-4272C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406365 | |||||||
| chr19:41406451 | G | A | 11 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(8): Show |
13 | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.109-4186G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406451 | |||||||
| chr19:41406570 | A | AT | 16 | a0001c0001t0001g0037 a0001c0001t0001g0219 a0001c0002t0001g0047 others(13): Show |
19 | HG01109.hp2 HG02132.hp2 HG02572.hp2 others(16): Show |
intron_variant | MODIFIER | c.109-4050dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41406570 | ||||||
| chr19:41406655 | C | T | 8 | a0001c0001t0001g0016 a0001c0001t0001g0142 a0001c0001t0001g0143 others(5): Show |
10 | HG01884.hp2 HG02280.hp2 HG02698.hp2 others(7): Show |
intron_variant | MODIFIER | c.109-3982C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406655 | |||||||
| chr19:41406829 | C | CA | 3 | a0001c0001t0001g0024 a0001c0001t0001g0154 a0001c0001t0001g0155 |
4 | HG00280.hp2 HG02074.hp2 NA18942.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-3805dupA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41406829 | ||||||
| chr19:41406831 | A | G | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.109-3806A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406831 | |||||||
| chr19:41406850 | G | A | 182 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(179): Show |
230 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(227): Show |
intron_variant | MODIFIER | c.109-3787G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406850 | |||||||
| chr19:41406861 | C | T | 2 | a0001c0004t0001g0008 a0001c0004t0001g0106 |
6 | HG02258.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.109-3776C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406861 | |||||||
| chr19:41406902 | A | G | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.109-3735A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406902 | |||||||
| chr19:41406915 | G | A | 11 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(8): Show |
13 | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.109-3722G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406915 | |||||||
| chr19:41406948 | G | A | 2 | a0001c0008t0001g0260 a0001c0014t0001g0259 |
2 | HG02818.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.109-3689G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41406948 | |||||||
| chr19:41407028 | A | ACTTTGTG | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.109-3608_109-3607i others(9): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407028 | ||||||
| chr19:41407235 | G | A | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.109-3402G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407235 | |||||||
| chr19:41407295 | A | G | 1 | a0001c0001t0001g0215 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.109-3342A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407295 | |||||||
| chr19:41407300 | C | T | 1 | a0001c0001t0001g0214 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.109-3337C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407300 | |||||||
| chr19:41407313 | A | G | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.109-3324A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407313 | |||||||
| chr19:41407362 | A | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.109-3275A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407362 | |||||||
| chr19:41407363 | G | A | 1 | a0001c0001t0001g0156 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.109-3274G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407363 | |||||||
| chr19:41407428 | G | C | 115 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(112): Show |
140 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
intron_variant | MODIFIER | c.109-3209G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407428 | |||||||
| chr19:41407526 | G | T | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.109-3111G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407526 | |||||||
| chr19:41407617 | G | C | 1 | a0001c0001t0001g0249 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.109-3020G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407617 | |||||||
| chr19:41407635 | G | A | 5 | a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 others(2): Show |
5 | NA18940.hp2 NA18967.hp1 NA19068.hp2 others(2): Show |
intron_variant | MODIFIER | c.109-3002G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407635 | |||||||
| chr19:41407673 | A | AC | 4 | a0001c0001t0001g0133 a0001c0001t0001g0195 a0001c0001t0001g0252 others(1): Show |
4 | HG02055.hp2 NA18943.hp1 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-2960dupC | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407673 | ||||||
| chr19:41407703 | C | T | 5 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(2): Show |
5 | HG02055.hp1 HG02559.hp1 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.109-2934C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407703 | |||||||
| chr19:41407857 | A | G | 4 | a0001c0001t0001g0034 a0001c0001t0001g0194 a0001c0001t0001g0226 others(1): Show |
5 | HG00280.hp1 HG01256.hp2 HG01258.hp2 others(2): Show |
intron_variant | MODIFIER | c.109-2780A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407857 | |||||||
| chr19:41407911 | G | C | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.109-2726G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407911 | |||||||
| chr19:41407927 | G | A | 4 | a0001c0001t0001g0244 a0001c0009t0001g0256 a0001c0009t0001g0257 others(1): Show |
4 | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-2710G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407927 | |||||||
| chr19:41407950 | A | AT | 28 | a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0020 others(25): Show |
47 | HG00323.hp2 HG00408.hp1 HG00642.hp1 others(44): Show |
intron_variant | MODIFIER | c.109-2664dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407950 | ||||||
| chr19:41407950 | A | ATT | 8 | a0001c0002t0001g0046 a0001c0002t0001g0085 a0001c0002t0001g0086 others(5): Show |
8 | NA18959.hp1 NA18965.hp1 NA18972.hp1 others(5): Show |
intron_variant | MODIFIER | c.109-2665_109-2664d others(4): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407950 | ||||||
| chr19:41407950 | AT | A | 5 | a0001c0002t0001g0012 a0001c0002t0001g0055 a0001c0002t0001g0056 others(2): Show |
6 | HG03225.hp2 HG03490.hp2 HG03654.hp1 others(3): Show |
intron_variant | MODIFIER | c.109-2664delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407950 | ||||||
| chr19:41407950 | ATTT | A | 50 | a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0125 others(47): Show |
59 | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(56): Show |
intron_variant | MODIFIER | c.109-2666_109-2664d others(5): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407950 | ||||||
| chr19:41407950 | ATTTT | A | 131 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(128): Show |
174 | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(171): Show |
intron_variant | MODIFIER | c.109-2667_109-2664d others(6): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41407950 | ||||||
| chr19:41407980 | G | A | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.109-2657G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41407980 | |||||||
| chr19:41408007 | G | A | 1 | a0001c0002t0001g0087 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.109-2630G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408007 | |||||||
| chr19:41408034 | C | T | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.109-2603C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408034 | |||||||
| chr19:41408063 | C | T | 1 | a0001c0001t0001g0217 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.109-2574C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408063 | |||||||
| chr19:41408111 | A | C | 2 | a0001c0002t0001g0019 a0001c0002t0001g0052 |
3 | HG02080.hp2 NA18984.hp1 NA18988.hp2 |
intron_variant | MODIFIER | c.109-2526A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408111 | |||||||
| chr19:41408248 | C | CCCAGCAT | 182 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(179): Show |
230 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(227): Show |
intron_variant | MODIFIER | c.109-2386_109-2380d others(9): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41408248 | ||||||
| chr19:41408262 | C | CT | 6 | a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 others(3): Show |
6 | HG00438.hp1 HG02723.hp2 HG04115.hp1 others(3): Show |
intron_variant | MODIFIER | c.109-2358dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41408262 | ||||||
| chr19:41408262 | CT | C | 7 | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0157 others(4): Show |
7 | HG02258.hp1 NA18612.hp2 NA18982.hp2 others(4): Show |
intron_variant | MODIFIER | c.109-2358delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41408262 | ||||||
| chr19:41408280 | A | T | 1 | a0001c0001t0001g0192 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.109-2357A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408280 | |||||||
| chr19:41408369 | A | G | 2 | a0001c0006t0001g0114 a0001c0006t0001g0115 |
2 | HG02257.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.109-2268A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408369 | |||||||
| chr19:41408529 | G | A | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.109-2108G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408529 | |||||||
| chr19:41408536 | A | G | 2 | a0001c0006t0002g0013 a0001c0006t0002g0113 |
4 | HG02486.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-2101A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408536 | |||||||
| chr19:41408541 | TCTC | T | 11 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(8): Show |
13 | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.109-2093_109-2091d others(5): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41408541 | ||||||
| chr19:41408571 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.109-2066T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408571 | |||||||
| chr19:41408621 | C | CT | 4 | a0001c0001t0001g0237 a0001c0002t0001g0094 a0001c0004t0001g0008 others(1): Show |
8 | HG02258.hp2 HG02723.hp1 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.109-2006dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41408621 | ||||||
| chr19:41408626 | T | C | 1 | a0001c0001t0001g0158 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.109-2011T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408626 | |||||||
| chr19:41408753 | G | C | 2 | a0001c0004t0001g0008 a0001c0004t0001g0106 |
6 | HG02258.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.109-1884G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408753 | |||||||
| chr19:41408822 | G | A | 1 | a0001c0014t0001g0259 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.109-1815G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408822 | |||||||
| chr19:41408905 | G | A | 1 | a0001c0001t0001g0025 | 2 | HG02572.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.109-1732G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408905 | |||||||
| chr19:41408921 | G | C | 1 | a0001c0008t0001g0260 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.109-1716G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408921 | |||||||
| chr19:41408929 | T | C | 4 | a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0060 others(1): Show |
4 | HG01256.hp1 HG03490.hp2 HG03654.hp1 others(1): Show |
intron_variant | MODIFIER | c.109-1708T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408929 | |||||||
| chr19:41408986 | G | A | 4 | a0001c0001t0001g0244 a0001c0009t0001g0256 a0001c0009t0001g0257 others(1): Show |
4 | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-1651G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41408986 | |||||||
| chr19:41409036 | G | T | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.109-1601G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409036 | |||||||
| chr19:41409098 | C | T | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.109-1539C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409098 | |||||||
| chr19:41409293 | T | C | 2 | a0001c0002t0001g0054 a0001c0002t0001g0062 |
2 | HG00673.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.109-1344T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409293 | |||||||
| chr19:41409387 | C | T | 10 | a0001c0001t0001g0244 a0001c0008t0001g0040 a0001c0008t0001g0260 others(7): Show |
11 | HG01109.hp2 HG02109.hp1 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.109-1250C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409387 | |||||||
| chr19:41409457 | T | G | 1 | a0001c0002t0001g0063 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.109-1180T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409457 | |||||||
| chr19:41409569 | G | A | 4 | a0001c0001t0001g0244 a0001c0009t0001g0256 a0001c0009t0001g0257 others(1): Show |
4 | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.109-1068G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409569 | |||||||
| chr19:41409584 | C | T | 1 | a0001c0002t0001g0084 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.109-1053C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41409584 | |||||||
| chr19:41409798 | A | AT | 15 | a0001c0001t0001g0130 a0001c0001t0001g0134 a0001c0001t0001g0178 others(12): Show |
16 | HG00323.hp2 HG01070.hp1 HG01243.hp2 others(13): Show |
intron_variant | MODIFIER | c.109-816dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41409798 | ||||||
| chr19:41409798 | AT | A | 21 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(18): Show |
22 | HG01109.hp2 HG01168.hp1 HG01168.hp2 others(19): Show |
intron_variant | MODIFIER | c.109-816delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41409798 | ||||||
| chr19:41409798 | ATT | A | 13 | a0001c0001t0001g0244 a0001c0004t0001g0103 a0001c0006t0001g0114 others(10): Show |
15 | HG01123.hp1 HG02109.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.109-817_109-816del others(2): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41409798 | ||||||
| chr19:41409798 | ATTT | A | 4 | a0001c0004t0001g0008 a0001c0004t0001g0106 a0001c0004t0002g0105 others(1): Show |
8 | HG02258.hp2 HG02723.hp1 HG02818.hp2 others(5): Show |
intron_variant | MODIFIER | c.109-818_109-816del others(3): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr19 | 41409798 | ||||||
| chr19:41410012 | A | G | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.109-625A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41410012 | |||||||
| chr19:41410020 | C | T | 1 | a0001c0007t0001g0238 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.109-617C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41410020 | |||||||
| chr19:41410174 | G | A | 1 | a0001c0001t0001g0178 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.109-463G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41410174 | |||||||
| chr19:41410179 | G | A | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.109-458G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41410179 | |||||||
| chr19:41410478 | A | C | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.109-159A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41410478 | |||||||
| chr19:41410569 | G | A | 2 | a0001c0001t0001g0118 a0001c0001t0001g0160 |
2 | HG01109.hp1 HG01168.hp2 |
intron_variant | MODIFIER | c.109-68G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 1/8 | chr19 | 41410569 | |||||||
| chr19:41410826 | G | A | 2 | a0001c0001t0001g0161 a0001c0001t0001g0207 |
2 | HG03834.hp1 HG04184.hp1 |
intron_variant | MODIFIER | c.288+10G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2/8 | chr19 | 41410826 | |||||||
| chr19:41410878 | C | G | 2 | a0001c0001t0001g0264 a0001c0001t0001g0265 |
2 | HG02055.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.289-45C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 2/8 | chr19 | 41410878 | |||||||
| chr19:41411083 | A | G | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.375+74A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411083 | |||||||
| chr19:41411111 | T | A | 1 | a0001c0008t0001g0262 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.375+102T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411111 | |||||||
| chr19:41411355 | C | T | 69 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(66): Show |
89 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(86): Show |
intron_variant | MODIFIER | c.375+346C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411355 | |||||||
| chr19:41411443 | A | C | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.375+434A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411443 | |||||||
| chr19:41411513 | G | GC | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.375+504_375+505ins others(1): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411513 | |||||||
| chr19:41411685 | T | C | 2 | a0001c0002t0001g0054 a0001c0002t0001g0062 |
2 | HG00673.hp1 HG02056.hp1 |
intron_variant | MODIFIER | c.375+676T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411685 | |||||||
| chr19:41411821 | C | T | 1 | a0001c0008t0001g0260 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.375+812C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411821 | |||||||
| chr19:41411963 | C | T | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.375+954C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41411963 | |||||||
| chr19:41412104 | C | T | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.375+1095C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412104 | |||||||
| chr19:41412126 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.375+1117C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412126 | |||||||
| chr19:41412149 | G | A | 26 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0027 others(23): Show |
34 | HG00099.hp2 HG00140.hp2 HG00733.hp1 others(31): Show |
intron_variant | MODIFIER | c.375+1140G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412149 | |||||||
| chr19:41412154 | G | C | 1 | a0001c0001t0001g0179 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.375+1145G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412154 | |||||||
| chr19:41412198 | CTGAACTT others(57): Show |
C | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.375+1194_375+1257d others(66): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412198 | ||||||
| chr19:41412222 | TC | T | 10 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(7): Show |
12 | HG02055.hp1 HG02109.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.375+1216delC | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412222 | ||||||
| chr19:41412253 | C | T | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.375+1244C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412253 | |||||||
| chr19:41412265 | A | G | 1 | a0001c0001t0001g0206 | 1 | NA18966.hp2 | intron_variant | MODIFIER | c.375+1256A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412265 | |||||||
| chr19:41412380 | C | CTTTTT | 14 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(11): Show |
17 | HG00140.hp1 HG01109.hp2 HG02055.hp1 others(14): Show |
intron_variant | MODIFIER | c.375+1385_375+1389d others(7): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(5): Show |
3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.375+1378_375+1389d others(14): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(11): Show |
10 | a0001c0001t0001g0136 a0001c0001t0001g0158 a0001c0001t0001g0164 others(7): Show |
11 | HG00738.hp1 HG01074.hp1 HG01243.hp1 others(8): Show |
intron_variant | MODIFIER | c.375+1372_375+1389d others(20): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(12): Show |
52 | a0001c0001t0001g0007 a0001c0001t0001g0023 a0001c0001t0001g0024 others(49): Show |
63 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(60): Show |
intron_variant | MODIFIER | c.375+1389_375+1390i others(21): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(13): Show |
49 | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 others(46): Show |
72 | HG00099.hp2 HG00280.hp1 HG00408.hp2 others(69): Show |
intron_variant | MODIFIER | c.375+1389_375+1390i others(22): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(14): Show |
31 | a0001c0001t0001g0006 a0001c0001t0001g0025 a0001c0001t0001g0031 others(28): Show |
41 | HG00609.hp2 HG00621.hp1 HG00642.hp2 others(38): Show |
intron_variant | MODIFIER | c.375+1389_375+1390i others(23): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(15): Show |
8 | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0161 others(5): Show |
8 | HG03516.hp2 HG03831.hp1 HG03834.hp1 others(5): Show |
intron_variant | MODIFIER | c.375+1389_375+1390i others(24): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | C | CTTTTTTT others(16): Show |
6 | a0001c0001t0001g0160 a0001c0001t0001g0177 a0001c0001t0001g0193 others(3): Show |
6 | HG00438.hp2 HG01109.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.375+1389_375+1390i others(25): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412380 | CTT | C | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.375+1388_375+1389d others(4): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41412380 | ||||||
| chr19:41412437 | G | A | 1 | a0001c0002t0001g0076 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.375+1428G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412437 | |||||||
| chr19:41412450 | C | T | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.375+1441C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412450 | |||||||
| chr19:41412464 | C | T | 1 | a0001c0001t0001g0252 | 1 | NA18972.hp2 | intron_variant | MODIFIER | c.375+1455C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412464 | |||||||
| chr19:41412504 | G | A | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.375+1495G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412504 | |||||||
| chr19:41412528 | G | A | 1 | a0001c0001t0001g0197 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.375+1519G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412528 | |||||||
| chr19:41412583 | G | T | 1 | a0001c0016t0001g0104 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.376-1466G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412583 | |||||||
| chr19:41412616 | G | C | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.376-1433G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412616 | |||||||
| chr19:41412742 | C | T | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.376-1307C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412742 | |||||||
| chr19:41412765 | G | A | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.376-1284G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412765 | |||||||
| chr19:41412850 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.376-1199C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41412850 | |||||||
| chr19:41413044 | C | A | 161 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(158): Show |
206 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
intron_variant | MODIFIER | c.376-1005C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413044 | |||||||
| chr19:41413126 | C | T | 1 | a0001c0001t0001g0171 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.376-923C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413126 | |||||||
| chr19:41413326 | C | T | 1 | a0001c0006t0001g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.376-723C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413326 | |||||||
| chr19:41413327 | G | A | 1 | a0001c0001t0001g0172 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.376-722G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413327 | |||||||
| chr19:41413338 | AG | A | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.376-709delG | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr19 | 41413338 | ||||||
| chr19:41413369 | A | G | 3 | a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 |
3 | HG01496.hp1 HG02257.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.376-680A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413369 | |||||||
| chr19:41413417 | A | C | 1 | a0001c0001t0001g0116 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.376-632A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413417 | |||||||
| chr19:41413442 | T | G | 1 | a0001c0006t0001g0114 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.376-607T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413442 | |||||||
| chr19:41413459 | C | T | 3 | a0001c0008t0001g0040 a0001c0008t0001g0262 a0001c0008t0001g0263 |
4 | HG01109.hp2 HG02572.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.376-590C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413459 | |||||||
| chr19:41413887 | G | A | 3 | a0001c0001t0001g0244 a0003c0005t0001g0220 a0003c0005t0001g0221 |
3 | HG02280.hp1 NA19002.hp2 NA19009.hp2 |
intron_variant | MODIFIER | c.376-162G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41413887 | |||||||
| chr19:41414039 | A | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.376-10A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41414039 | |||||||
| chr19:41414045 | C | T | 1 | a0001c0001t0001g0126 | 1 | HG02735.hp2 | splice_region_variant&intron_variant | LOW | c.376-4C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 3/8 | chr19 | 41414045 | |||||||
| chr19:41414162 | G | A | 1 | a0001c0002t0001g0066 | 1 | HG01346.hp1 | splice_region_variant&intron_variant | LOW | c.484+5G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414162 | |||||||
| chr19:41414181 | C | T | 1 | a0001c0007t0001g0234 | 1 | NA18967.hp2 | intron_variant | MODIFIER | c.484+24C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414181 | |||||||
| chr19:41414239 | A | G | 1 | a0001c0001t0001g0168 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.484+82A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414239 | |||||||
| chr19:41414306 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.484+149T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414306 | |||||||
| chr19:41414326 | T | A | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.484+169T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414326 | |||||||
| chr19:41414535 | A | T | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.484+378A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414535 | |||||||
| chr19:41414549 | G | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.484+392G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414549 | |||||||
| chr19:41414651 | G | C | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.484+494G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414651 | |||||||
| chr19:41414860 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.484+703T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414860 | |||||||
| chr19:41414969 | G | A | 1 | a0001c0001t0001g0165 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.484+812G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41414969 | |||||||
| chr19:41415166 | C | T | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.484+1009C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415166 | |||||||
| chr19:41415184 | T | G | 2 | a0001c0002t0001g0017 a0001c0002t0001g0042 |
3 | HG01891.hp1 HG03098.hp1 NA18522.hp2 |
intron_variant | MODIFIER | c.484+1027T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415184 | |||||||
| chr19:41415197 | G | A | 2 | a0001c0006t0002g0013 a0001c0006t0002g0113 |
4 | HG02486.hp2 HG02886.hp2 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.484+1040G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415197 | |||||||
| chr19:41415232 | G | A | 1 | a0001c0001t0001g0140 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.484+1075G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415232 | |||||||
| chr19:41415406 | T | C | 1 | a0001c0001t0001g0108 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.484+1249T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415406 | |||||||
| chr19:41415507 | G | A | 2 | a0001c0001t0001g0196 a0001c0001t0001g0199 |
2 | HG03490.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.484+1350G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415507 | |||||||
| chr19:41415675 | A | G | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.484+1518A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415675 | |||||||
| chr19:41415749 | C | T | 1 | a0001c0002t0001g0082 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.484+1592C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415749 | |||||||
| chr19:41415822 | G | A | 1 | a0001c0002t0001g0067 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.484+1665G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415822 | |||||||
| chr19:41415892 | C | T | 1 | a0001c0006t0001g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.484+1735C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41415892 | |||||||
| chr19:41415946 | C | CT | 6 | a0001c0001t0001g0110 a0001c0001t0001g0159 a0001c0001t0001g0224 others(3): Show |
6 | HG01169.hp2 HG01192.hp1 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.484+1804dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41415946 | ||||||
| chr19:41415946 | C | CTT | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.484+1803_484+1804d others(4): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41415946 | ||||||
| chr19:41416018 | A | G | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.484+1861A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416018 | |||||||
| chr19:41416063 | A | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.484+1906A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416063 | |||||||
| chr19:41416068 | G | A | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.484+1911G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416068 | |||||||
| chr19:41416146 | G | A | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.484+1989G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416146 | |||||||
| chr19:41416235 | G | A | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.484+2078G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416235 | |||||||
| chr19:41416260 | A | T | 1 | a0001c0001t0001g0217 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.484+2103A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416260 | |||||||
| chr19:41416371 | C | G | 1 | a0001c0014t0001g0259 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.484+2214C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416371 | |||||||
| chr19:41416447 | A | G | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.484+2290A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416447 | |||||||
| chr19:41416453 | A | G | 3 | a0001c0004t0001g0008 a0001c0004t0001g0106 a0001c0004t0002g0105 |
7 | HG02258.hp2 HG02723.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.484+2296A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416453 | |||||||
| chr19:41416590 | C | T | 1 | a0001c0006t0001g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.484+2433C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416590 | |||||||
| chr19:41416685 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.485-2450T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416685 | |||||||
| chr19:41416736 | A | G | 11 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(8): Show |
13 | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.485-2399A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416736 | |||||||
| chr19:41416779 | C | T | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.485-2356C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416779 | |||||||
| chr19:41416870 | A | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.485-2265A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41416870 | |||||||
| chr19:41417014 | A | G | 1 | a0001c0002t0001g0228 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.485-2121A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417014 | |||||||
| chr19:41417161 | G | A | 172 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(169): Show |
219 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(216): Show |
intron_variant | MODIFIER | c.485-1974G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417161 | |||||||
| chr19:41417178 | A | AT | 34 | a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 others(31): Show |
43 | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(40): Show |
intron_variant | MODIFIER | c.485-1947dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41417178 | ||||||
| chr19:41417189 | G | T | 1 | a0002c0003t0001g0182 | 1 | HG01074.hp1 | intron_variant | MODIFIER | c.485-1946G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417189 | |||||||
| chr19:41417352 | A | C | 2 | a0001c0002t0001g0079 a0001c0002t0001g0096 |
2 | NA19000.hp1 NA19086.hp2 |
intron_variant | MODIFIER | c.485-1783A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417352 | |||||||
| chr19:41417409 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.485-1726T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417409 | |||||||
| chr19:41417551 | C | T | 2 | a0001c0008t0001g0260 a0001c0014t0001g0259 |
2 | HG02818.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.485-1584C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417551 | |||||||
| chr19:41417668 | T | C | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.485-1467T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417668 | |||||||
| chr19:41417739 | A | T | 1 | a0001c0008t0001g0260 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.485-1396A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417739 | |||||||
| chr19:41417894 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.485-1241T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41417894 | |||||||
| chr19:41417920 | CA | C | 13 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(10): Show |
15 | HG01884.hp1 HG02055.hp1 HG02109.hp2 others(12): Show |
intron_variant | MODIFIER | c.485-1202delA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41417920 | ||||||
| chr19:41418091 | C | CA | 6 | a0001c0002t0001g0055 a0001c0002t0001g0068 a0001c0002t0001g0077 others(3): Show |
6 | HG02738.hp2 HG03654.hp1 NA19000.hp2 others(3): Show |
intron_variant | MODIFIER | c.485-1019dupA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418091 | ||||||
| chr19:41418091 | CAA | C | 15 | a0001c0001t0001g0029 a0001c0001t0001g0110 a0001c0001t0001g0112 others(12): Show |
17 | HG01109.hp2 HG02055.hp1 HG02074.hp1 others(14): Show |
intron_variant | MODIFIER | c.485-1020_485-1019d others(4): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418091 | ||||||
| chr19:41418091 | CAAA | C | 159 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(156): Show |
208 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(205): Show |
intron_variant | MODIFIER | c.485-1021_485-1019d others(5): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418091 | ||||||
| chr19:41418091 | CAAAA | C | 13 | a0001c0001t0001g0032 a0001c0001t0001g0125 a0001c0001t0001g0157 others(10): Show |
14 | HG02109.hp1 HG02109.hp2 HG02280.hp1 others(11): Show |
intron_variant | MODIFIER | c.485-1022_485-1019d others(6): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418091 | ||||||
| chr19:41418233 | C | T | 5 | a0001c0001t0001g0035 a0001c0001t0001g0203 a0001c0001t0001g0213 others(2): Show |
6 | HG02129.hp1 NA18959.hp2 NA18972.hp2 others(3): Show |
intron_variant | MODIFIER | c.485-902C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418233 | |||||||
| chr19:41418357 | C | T | 1 | a0001c0001t0001g0254 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.485-778C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418357 | |||||||
| chr19:41418504 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.485-631G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418504 | |||||||
| chr19:41418504 | G | T | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.485-631G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418504 | |||||||
| chr19:41418534 | A | AT | 160 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(157): Show |
207 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(204): Show |
intron_variant | MODIFIER | c.485-587dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418534 | ||||||
| chr19:41418534 | A | ATT | 12 | a0001c0001t0001g0110 a0001c0001t0001g0162 a0001c0001t0001g0202 others(9): Show |
12 | HG00621.hp1 HG00738.hp1 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.485-588_485-587dup others(2): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418534 | ||||||
| chr19:41418589 | T | C | 4 | a0001c0001t0001g0244 a0001c0009t0001g0256 a0001c0009t0001g0257 others(1): Show |
4 | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.485-546T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418589 | |||||||
| chr19:41418595 | G | T | 4 | a0001c0002t0001g0011 a0001c0002t0001g0058 a0001c0002t0001g0072 others(1): Show |
6 | HG02145.hp2 HG02258.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.485-540G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418595 | |||||||
| chr19:41418609 | G | A | 1 | a0001c0002t0001g0069 | 1 | NA20752.hp2 | intron_variant | MODIFIER | c.485-526G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418609 | |||||||
| chr19:41418705 | A | AT | 6 | a0001c0001t0001g0164 a0001c0001t0001g0175 a0001c0002t0001g0042 others(3): Show |
6 | HG00738.hp2 HG01255.hp2 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.485-415dupT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418705 | ||||||
| chr19:41418705 | AT | A | 6 | a0001c0001t0001g0244 a0001c0001t0003g0117 a0001c0002t0001g0064 others(3): Show |
6 | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.485-415delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr19 | 41418705 | ||||||
| chr19:41418881 | G | C | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.485-254G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41418881 | |||||||
| chr19:41419107 | G | A | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.485-28G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 4/8 | chr19 | 41419107 | |||||||
| chr19:41419445 | A | G | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.646+149A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419445 | |||||||
| chr19:41419506 | A | G | 64 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0023 others(61): Show |
78 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(75): Show |
intron_variant | MODIFIER | c.646+210A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419506 | |||||||
| chr19:41419533 | C | T | 21 | a0001c0001t0001g0024 a0001c0001t0001g0037 a0001c0001t0001g0154 others(18): Show |
23 | HG00280.hp2 HG02074.hp2 HG02132.hp2 others(20): Show |
intron_variant | MODIFIER | c.646+237C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419533 | |||||||
| chr19:41419603 | A | G | 1 | a0001c0001t0001g0016 | 3 | HG03041.hp2 HG03486.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.646+307A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419603 | |||||||
| chr19:41419689 | G | A | 5 | a0001c0004t0001g0008 a0001c0004t0001g0103 a0001c0004t0001g0106 others(2): Show |
9 | HG01123.hp1 HG02258.hp2 HG02723.hp1 others(6): Show |
intron_variant | MODIFIER | c.646+393G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419689 | |||||||
| chr19:41419746 | CT | C | 32 | a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0010 others(29): Show |
56 | HG00609.hp1 HG00621.hp2 HG00642.hp1 others(53): Show |
intron_variant | MODIFIER | c.646+483delT | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41419746 | ||||||
| chr19:41419746 | CTT | C | 42 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0009 others(39): Show |
69 | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(66): Show |
intron_variant | MODIFIER | c.646+482_646+483del others(2): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41419746 | ||||||
| chr19:41419746 | CTTTTTTT others(17): Show |
C | 189 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(186): Show |
241 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(238): Show |
intron_variant | MODIFIER | c.646+460_646+483del others(24): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41419746 | ||||||
| chr19:41419789 | C | T | 1 | a0001c0008t0001g0263 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.646+493C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419789 | |||||||
| chr19:41419852 | C | T | 3 | a0001c0001t0001g0027 a0001c0001t0001g0166 a0001c0001t0001g0192 |
4 | HG01070.hp2 HG01071.hp2 HG01358.hp2 others(1): Show |
intron_variant | MODIFIER | c.646+556C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419852 | |||||||
| chr19:41419939 | T | G | 1 | a0001c0015t0001g0051 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.646+643T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419939 | |||||||
| chr19:41419953 | GAGATAAG others(18): Show |
G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+658_646+682del others(25): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41419953 | |||||||
| chr19:41420131 | C | T | 1 | a0001c0008t0001g0261 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.646+835C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420131 | |||||||
| chr19:41420168 | ACT | A | 9 | a0001c0001t0001g0023 a0001c0001t0001g0127 a0001c0001t0001g0128 others(6): Show |
10 | HG02027.hp1 HG02165.hp2 NA18940.hp2 others(7): Show |
intron_variant | MODIFIER | c.646+875_646+876del others(2): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41420168 | ||||||
| chr19:41420193 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.646+897T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420193 | |||||||
| chr19:41420196 | T | C | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.646+900T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420196 | |||||||
| chr19:41420305 | G | A | 2 | a0001c0006t0001g0114 a0001c0006t0001g0115 |
2 | HG02257.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.646+1009G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420305 | |||||||
| chr19:41420338 | C | G | 2 | a0001c0004t0001g0103 a0001c0016t0001g0104 |
2 | HG01123.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.646+1042C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420338 | |||||||
| chr19:41420383 | G | T | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1087G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420383 | |||||||
| chr19:41420384 | G | T | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1088G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420384 | |||||||
| chr19:41420385 | GA | G | 6 | a0001c0001t0001g0116 a0001c0006t0001g0114 a0001c0006t0001g0115 others(3): Show |
8 | HG01884.hp1 HG02109.hp2 HG02257.hp2 others(5): Show |
intron_variant | MODIFIER | c.646+1099delA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41420385 | ||||||
| chr19:41420390 | A | C | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1094A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420390 | |||||||
| chr19:41420392 | A | C | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1096A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420392 | |||||||
| chr19:41420395 | A | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1099A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420395 | |||||||
| chr19:41420396 | G | A | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1100G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420396 | |||||||
| chr19:41420401 | G | A | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1105G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420401 | |||||||
| chr19:41420402 | G | A | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1106G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420402 | |||||||
| chr19:41420405 | C | T | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1109C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420405 | |||||||
| chr19:41420409 | G | T | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1113G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420409 | |||||||
| chr19:41420422 | A | T | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1126A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420422 | |||||||
| chr19:41420427 | T | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1131T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420427 | |||||||
| chr19:41420428 | G | A | 2 | a0001c0001t0001g0119 a0001c0001t0001g0167 |
2 | HG01516.hp2 HG01517.hp1 |
intron_variant | MODIFIER | c.646+1132G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420428 | |||||||
| chr19:41420439 | A | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1143A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420439 | |||||||
| chr19:41420440 | C | A | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1144C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420440 | |||||||
| chr19:41420442 | T | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1146T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420442 | |||||||
| chr19:41420445 | A | T | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1149A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420445 | |||||||
| chr19:41420446 | A | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1150A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420446 | |||||||
| chr19:41420449 | A | C | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1153A>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420449 | |||||||
| chr19:41420450 | T | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1154T>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420450 | |||||||
| chr19:41420460 | A | G | 1 | a0001c0002t0001g0070 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.646+1164A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420460 | |||||||
| chr19:41420466 | G | A | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.646+1170G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420466 | |||||||
| chr19:41420590 | CA | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.646+1308delA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41420590 | ||||||
| chr19:41420771 | C | T | 1 | a0001c0008t0001g0261 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.647-1393C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420771 | |||||||
| chr19:41420810 | T | C | 2 | a0001c0001t0001g0174 a0001c0002t0001g0068 |
2 | HG04199.hp2 NA19070.hp1 |
intron_variant | MODIFIER | c.647-1354T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420810 | |||||||
| chr19:41420885 | T | C | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.647-1279T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420885 | |||||||
| chr19:41420902 | C | A | 1 | a0001c0001t0001g0212 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.647-1262C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420902 | |||||||
| chr19:41420918 | T | C | 2 | a0001c0004t0001g0103 a0001c0016t0001g0104 |
2 | HG01123.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.647-1246T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420918 | |||||||
| chr19:41420933 | C | T | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.647-1231C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41420933 | |||||||
| chr19:41421014 | C | T | 1 | a0002c0003t0001g0185 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.647-1150C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421014 | |||||||
| chr19:41421104 | GAGGGGGC others(4): Show |
G | 1 | a0001c0001t0001g0188 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.647-1048_647-1038d others(13): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41421104 | ||||||
| chr19:41421110 | G | A | 38 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0035 others(35): Show |
57 | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(54): Show |
intron_variant | MODIFIER | c.647-1054G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421110 | |||||||
| chr19:41421110 | G | T | 2 | a0001c0001t0001g0030 a0001c0001t0001g0157 |
2 | HG00408.hp2 NA18612.hp2 |
intron_variant | MODIFIER | c.647-1054G>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421110 | |||||||
| chr19:41421130 | C | T | 2 | a0001c0001t0001g0246 a0001c0011t0001g0248 |
2 | HG03453.hp2 NA20129.hp2 |
intron_variant | MODIFIER | c.647-1034C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421130 | |||||||
| chr19:41421163 | G | A | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.647-1001G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421163 | |||||||
| chr19:41421224 | A | G | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.647-940A>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421224 | |||||||
| chr19:41421398 | T | C | 10 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(7): Show |
14 | HG01123.hp1 HG02055.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.647-766T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421398 | |||||||
| chr19:41421418 | G | A | 1 | a0001c0001t0001g0116 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.647-746G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421418 | |||||||
| chr19:41421429 | G | A | 3 | a0001c0009t0001g0256 a0001c0009t0001g0257 a0001c0009t0001g0258 |
3 | HG02109.hp1 HG02630.hp2 HG02965.hp1 |
intron_variant | MODIFIER | c.647-735G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421429 | |||||||
| chr19:41421457 | A | AG | 186 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(183): Show |
238 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(235): Show |
intron_variant | MODIFIER | c.647-701dupG | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41421457 | ||||||
| chr19:41421543 | T | A | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.647-621T>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421543 | |||||||
| chr19:41421637 | A | AG | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.647-525dupG | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | 41421637 | ||||||
| chr19:41421782 | A | T | 1 | a0001c0001t0001g0211 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.647-382A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421782 | |||||||
| chr19:41421833 | G | C | 10 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(7): Show |
14 | HG01123.hp1 HG02055.hp1 HG02258.hp2 others(11): Show |
intron_variant | MODIFIER | c.647-331G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 5/8 | chr19 | 41421833 | |||||||
| chr19:41422400 | C | T | 2 | a0001c0002t0001g0055 a0001c0002t0001g0056 |
2 | HG03490.hp2 HG03654.hp1 |
intron_variant | MODIFIER | c.853+30C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422400 | |||||||
| chr19:41422401 | G | A | 1 | a0001c0002t0001g0078 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.853+31G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422401 | |||||||
| chr19:41422431 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.853+61T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422431 | |||||||
| chr19:41422439 | T | C | 1 | a0001c0001t0003g0117 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.853+69T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422439 | |||||||
| chr19:41422440 | C | T | 1 | a0001c0001t0003g0117 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.853+70C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422440 | |||||||
| chr19:41422488 | G | A | 6 | a0001c0001t0001g0116 a0001c0004t0001g0008 a0001c0004t0001g0103 others(3): Show |
10 | HG01123.hp1 HG01884.hp1 HG02258.hp2 others(7): Show |
intron_variant | MODIFIER | c.853+118G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422488 | |||||||
| chr19:41422532 | A | T | 1 | a0001c0001t0001g0212 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.854-97A>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | chr19 | 41422532 | |||||||
| chr19:41422561 | TC | T | 4 | a0001c0001t0001g0244 a0001c0009t0001g0256 a0001c0009t0001g0257 others(1): Show |
4 | HG02109.hp1 HG02280.hp1 HG02630.hp2 others(1): Show |
intron_variant | MODIFIER | c.854-64delC | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | 41422561 | ||||||
| chr19:41422779 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.995+9C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | chr19 | 41422779 | |||||||
| chr19:41422796 | C | T | 70 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 others(67): Show |
90 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(87): Show |
intron_variant | MODIFIER | c.995+26C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | chr19 | 41422796 | |||||||
| chr19:41422819 | G | A | 181 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(178): Show |
232 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(229): Show |
intron_variant | MODIFIER | c.995+49G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | chr19 | 41422819 | |||||||
| chr19:41422860 | C | T | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.995+90C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | chr19 | 41422860 | |||||||
| chr19:41422930 | C | T | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.996-68C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | chr19 | 41422930 | |||||||
| chr19:41422962 | G | GC | 187 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(184): Show |
239 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(236): Show |
intron_variant | MODIFIER | c.996-33dupC | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | 41422962 | ||||||
| chr19:41422992 | G | A | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
splice_region_variant&intron_variant | LOW | c.996-6G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 7/8 | chr19 | 41422992 | |||||||
| chr19:41423182 | C | T | 1 | a0001c0001t0001g0204 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1167+13C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41423182 | |||||||
| chr19:41423315 | C | A | 1 | a0002c0003t0001g0033 | 2 | HG01081.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.1167+146C>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41423315 | |||||||
| chr19:41423346 | T | C | 188 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(185): Show |
240 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(237): Show |
intron_variant | MODIFIER | c.1167+177T>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41423346 | |||||||
| chr19:41423526 | C | T | 1 | a0002c0003t0001g0250 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.1167+357C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41423526 | |||||||
| chr19:41423616 | G | C | 2 | a0001c0008t0001g0260 a0001c0014t0001g0259 |
2 | HG02818.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.1167+447G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41423616 | |||||||
| chr19:41423619 | G | A | 1 | a0001c0001t0001g0201 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.1167+450G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41423619 | |||||||
| chr19:41423832 | C | CA | 182 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(179): Show |
234 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(231): Show |
intron_variant | MODIFIER | c.1168-595dupA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | 41423832 | ||||||
| chr19:41423832 | C | CAA | 7 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(4): Show |
7 | HG01257.hp2 HG02055.hp1 HG02559.hp1 others(4): Show |
intron_variant | MODIFIER | c.1168-596_1168-595d others(4): Show |
BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | 41423832 | ||||||
| chr19:41423992 | TA | T | 6 | a0001c0001t0001g0125 a0001c0001t0001g0210 a0001c0002t0001g0052 others(3): Show |
6 | HG01256.hp1 HG03831.hp2 NA18984.hp1 others(3): Show |
intron_variant | MODIFIER | c.1168-432delA | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr19 | 41423992 | ||||||
| chr19:41424010 | G | C | 161 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(158): Show |
206 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(203): Show |
intron_variant | MODIFIER | c.1168-428G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424010 | |||||||
| chr19:41424034 | G | A | 1 | a0001c0001t0001g0244 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1168-404G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424034 | |||||||
| chr19:41424083 | G | A | 167 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(164): Show |
214 | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(211): Show |
intron_variant | MODIFIER | c.1168-355G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424083 | |||||||
| chr19:41424152 | G | A | 1 | a0001c0002t0001g0102 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.1168-286G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424152 | |||||||
| chr19:41424201 | G | C | 1 | a0001c0001t0003g0117 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1168-237G>C | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424201 | |||||||
| chr19:41424202 | C | G | 1 | a0001c0001t0003g0117 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1168-236C>G | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424202 | |||||||
| chr19:41424324 | G | A | 1 | a0001c0004t0001g0106 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.1168-114G>A | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424324 | |||||||
| chr19:41424372 | C | T | 6 | a0001c0008t0001g0040 a0001c0008t0001g0260 a0001c0008t0001g0261 others(3): Show |
7 | HG01109.hp2 HG02572.hp2 HG02818.hp2 others(4): Show |
intron_variant | MODIFIER | c.1168-66C>T | BCKDHA | ENSG00000248098.12 | transcript | ENST00000269980.7 | protein_coding | 8/8 | chr19 | 41424372 |