Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 875 |
| ensemblid | ENSG00000160200.18 |
| hgncid | 1550 |
| symbol | CBS |
| name | cystathionine beta-synthase |
| refseq_nuc | NM_000071.3 |
| refseq_prot | NP_000062.1 |
| ensembl_nuc | ENST00000398165.8 |
| ensembl_prot | ENSP00000381231.4 |
| mane_status | MANE Select |
| chr | chr21 |
| start | 43053191 |
| end | 43075835 |
| strand | - |
| ver | v1.2 |
| region | chr21:43053191-43075835 |
| region5000 | chr21:43048191-43080835 |
| regionname0 | CBS_chr21_43053191_43075835 |
| regionname5000 | CBS_chr21_43048191_43080835 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 551 | 244 | 38 | 47 | 120 | 6 | 33 | 89 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0002 | 0/0 | 292 | 40 | 29 | 8 | 0 | 2 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | MPSET others(287): Show |
chr21 | 43048191 | 43080835 |
| a0003 | 0/0 | 551 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0004 | 0/0 | 551 | 3 | 0 | 0 | 3 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0005 | 0/0 | 551 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0006 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0007 | 0/0 | 551 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0008 | 0/0 | 292 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | MPSET others(287): Show |
chr21 | 43048191 | 43080835 |
| a0009 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| a0010 | 0/0 | 551 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | MPSET others(546): Show |
chr21 | 43048191 | 43080835 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 1653 | 137 | 32 | 24 | 64 | 1 | 16 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0002 | 0/0 | 1653 | 89 | 0 | 17 | 54 | 4 | 14 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0004 | 0/0 | 1653 | 11 | 3 | 6 | 0 | 0 | 2 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0006 | 0/0 | 1653 | 3 | 2 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0008 | 0/0 | 1653 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0009 | 0/0 | 1653 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0012 | 0/0 | 1653 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0001c0014 | 0/0 | 1653 | 1 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0002c0003 | 0/0 | 1721 | 39 | 28 | 8 | 0 | 2 | 1 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1716): Show |
chr21 | 43048191 | 43080835 | ||
| a0002c0010 | 0/0 | 1721 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1716): Show |
chr21 | 43048191 | 43080835 | ||
| a0003c0005 | 0/0 | 1653 | 5 | 5 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0004c0007 | 0/0 | 1653 | 3 | 0 | 0 | 3 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0005c0016 | 0/0 | 1653 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0006c0017 | 0/0 | 1653 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0007c0013 | 0/0 | 1653 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0008c0015 | 0/0 | 1721 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1716): Show |
chr21 | 43048191 | 43080835 | ||
| a0009c0018 | 0/0 | 1653 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 | ||
| a0010c0011 | 0/0 | 1653 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | ATGCC others(1648): Show |
chr21 | 43048191 | 43080835 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 2495 | 2 | 0 | 0 | 0 | 0 | 2 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0001t0002 | 0/0 | 2495 | 82 | 7 | 21 | 43 | 1 | 10 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0001t0003 | 0/0 | 2495 | 40 | 12 | 3 | 21 | 0 | 4 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0001t0005 | 0/0 | 2495 | 9 | 9 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0001t0008 | 0/0 | 2490 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2485): Show |
chr21 | 43048191 | 43080835 |
| a0001c0001t0009 | 0/0 | 2495 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0002t0001 | 0/0 | 2495 | 87 | 0 | 17 | 52 | 4 | 14 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0002t0002 | 0/0 | 2495 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0004t0001 | 0/0 | 2495 | 10 | 3 | 6 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0004t0002 | 0/0 | 2495 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0006t0010 | 0/0 | 2495 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0006t0011 | 0/0 | 2495 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0008t0001 | 0/0 | 2495 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0009t0003 | 0/0 | 2495 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0012t0002 | 0/0 | 2495 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0001c0014t0001 | 0/0 | 2495 | 1 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0002c0003t0001 | 0/0 | 2563 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2558): Show |
chr21 | 43048191 | 43080835 |
| a0002c0003t0003 | 0/0 | 2563 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2558): Show |
chr21 | 43048191 | 43080835 |
| a0002c0003t0004 | 0/0 | 2558 | 30 | 20 | 7 | 0 | 2 | 1 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2553): Show |
chr21 | 43048191 | 43080835 |
| a0002c0003t0006 | 0/0 | 2563 | 6 | 5 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2558): Show |
chr21 | 43048191 | 43080835 |
| a0002c0010t0001 | 0/0 | 2563 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2558): Show |
chr21 | 43048191 | 43080835 |
| a0003c0005t0007 | 0/0 | 2495 | 5 | 5 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0004c0007t0003 | 0/0 | 2495 | 3 | 0 | 0 | 3 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0005c0016t0002 | 0/0 | 2495 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0006c0017t0001 | 0/0 | 2495 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0007c0013t0002 | 0/0 | 2495 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0008c0015t0012 | 0/0 | 2563 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2558): Show |
chr21 | 43048191 | 43080835 |
| a0009c0018t0001 | 0/0 | 2495 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| a0010c0011t0002 | 0/0 | 2495 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | GTCGC others(2490): Show |
chr21 | 43048191 | 43080835 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0002 | 0/0 | 19 | 0 | 4 | 10 | 1 | 4 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0004 | 0/0 | 8 | 0 | 0 | 8 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0007 | 0/0 | 4 | 0 | 2 | 1 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0008 | 0/0 | 4 | 0 | 0 | 1 | 0 | 3 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0012 | 0/0 | 3 | 0 | 3 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0013 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0014 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0035 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0036 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0130 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0140 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0143 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0150 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0002g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0003 | 0/0 | 8 | 0 | 0 | 6 | 0 | 2 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0028 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0031 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0085 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0103 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0153 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0154 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0003g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0005g0029 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0005g0030 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0005g0038 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0005g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0005g0090 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0005g0167 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0008g0034 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0009g0152 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0001t0009g0155 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0001 | 0/0 | 27 | 0 | 4 | 14 | 2 | 7 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0005 | 0/0 | 7 | 0 | 1 | 5 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0006 | 0/0 | 6 | 0 | 4 | 0 | 1 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0009 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0015 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0018 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0023 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0024 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0025 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0026 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0059 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0060 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0068 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0069 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0070 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0071 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0075 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0104 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0165 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0001g0183 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0002t0002g0022 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0019 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0021 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0001g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0004t0002g0111 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0006t0010g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0006t0010g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0006t0011g0171 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0008t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0009t0003g0151 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0012t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0001c0014t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0003g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0010 | 0/0 | 3 | 2 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0011 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0017 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0032 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0033 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0037 | 0/0 | 2 | 1 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0110 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0114 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0116 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0164 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0004g0177 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0006g0016 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0006g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0006g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0003t0006g0159 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0002c0010t0001g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0003c0005t0007g0020 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0003c0005t0007g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0003c0005t0007g0131 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0003c0005t0007g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0004c0007t0003g0027 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0004c0007t0003g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0005c0016t0002g0157 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0006c0017t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0007c0013t0002g0128 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0008c0015t0012g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0009c0018t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| a0010c0011t0002g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00099 | hp1 | a0001 | c0001 | t0002 | g0002 | EUR | GBR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00099 | hp2 | a0002 | c0003 | t0004 | g0110 | EUR | GBR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00280 | hp1 | a0001 | c0002 | t0001 | g0006 | EUR | FIN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00280 | hp2 | a0002 | c0003 | t0004 | g0032 | EUR | FIN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00423 | hp1 | a0001 | c0001 | t0002 | g0007 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00423 | hp2 | a0001 | c0002 | t0001 | g0075 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00438 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00438 | hp2 | a0001 | c0001 | t0003 | g0099 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00544 | hp1 | a0001 | c0002 | t0001 | g0068 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00544 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00597 | hp1 | a0001 | c0002 | t0002 | g0022 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00597 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00609 | hp1 | a0001 | c0002 | t0001 | g0180 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00609 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00621 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00621 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00639 | hp1 | a0001 | c0001 | t0003 | g0132 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00639 | hp2 | a0001 | c0001 | t0002 | g0130 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00673 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00673 | hp2 | a0001 | c0001 | t0002 | g0008 | EAS | CHS | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00738 | hp1 | a0001 | c0002 | t0001 | g0060 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00738 | hp2 | a0001 | c0001 | t0002 | g0129 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00741 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG00741 | hp2 | a0001 | c0002 | t0001 | g0059 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01070 | hp1 | a0001 | c0004 | t0001 | g0021 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01070 | hp2 | a0001 | c0002 | t0001 | g0006 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01071 | hp1 | a0001 | c0004 | t0001 | g0021 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01071 | hp2 | a0001 | c0002 | t0001 | g0054 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01074 | hp1 | a0001 | c0004 | t0001 | g0056 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01074 | hp2 | a0001 | c0002 | t0001 | g0182 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01081 | hp1 | a0002 | c0003 | t0004 | g0108 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01081 | hp2 | a0001 | c0001 | t0003 | g0098 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01106 | hp1 | a0001 | c0004 | t0001 | g0058 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01106 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01109 | hp1 | a0002 | c0003 | t0006 | g0159 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01109 | hp2 | a0001 | c0001 | t0002 | g0140 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01167 | hp1 | a0002 | c0003 | t0004 | g0010 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01167 | hp2 | a0001 | c0001 | t0003 | g0084 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01243 | hp1 | a0002 | c0003 | t0004 | g0112 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01243 | hp2 | a0001 | c0002 | t0001 | g0064 | AMR | PUR | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01255 | hp1 | a0001 | c0001 | t0002 | g0175 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01255 | hp2 | a0001 | c0002 | t0001 | g0006 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01257 | hp1 | a0002 | c0003 | t0004 | g0164 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01257 | hp2 | a0001 | c0002 | t0001 | g0009 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01258 | hp1 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01258 | hp2 | a0002 | c0003 | t0004 | g0037 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01261 | hp1 | a0001 | c0001 | t0002 | g0096 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01261 | hp2 | a0001 | c0001 | t0002 | g0035 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01346 | hp1 | a0001 | c0001 | t0002 | g0035 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01346 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01358 | hp1 | a0001 | c0001 | t0002 | g0002 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01358 | hp2 | a0001 | c0002 | t0001 | g0005 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01361 | hp1 | a0001 | c0002 | t0001 | g0183 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01361 | hp2 | a0002 | c0003 | t0004 | g0114 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01433 | hp1 | a0002 | c0003 | t0004 | g0032 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01433 | hp2 | a0001 | c0002 | t0001 | g0006 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01496 | hp1 | a0001 | c0001 | t0002 | g0053 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01496 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01884 | hp1 | a0001 | c0001 | t0005 | g0038 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01884 | hp2 | a0001 | c0001 | t0005 | g0090 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01928 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01928 | hp2 | a0001 | c0001 | t0002 | g0007 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01934 | hp1 | a0001 | c0001 | t0002 | g0143 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01934 | hp2 | a0001 | c0002 | t0001 | g0066 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01978 | hp1 | a0001 | c0002 | t0001 | g0006 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0181 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01993 | hp1 | a0001 | c0001 | t0002 | g0125 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01993 | hp2 | a0005 | c0016 | t0002 | g0157 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02004 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02004 | hp2 | a0001 | c0004 | t0001 | g0050 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02027 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02027 | hp2 | a0004 | c0007 | t0003 | g0027 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02040 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02040 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02055 | hp1 | a0002 | c0003 | t0004 | g0119 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02055 | hp2 | a0001 | c0001 | t0002 | g0150 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02056 | hp1 | a0001 | c0002 | t0001 | g0074 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02056 | hp2 | a0001 | c0001 | t0003 | g0078 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02071 | hp1 | a0001 | c0001 | t0002 | g0052 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02071 | hp2 | a0001 | c0001 | t0002 | g0147 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02083 | hp1 | a0001 | c0002 | t0001 | g0015 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02083 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02129 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02129 | hp2 | a0004 | c0007 | t0003 | g0027 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02132 | hp1 | a0001 | c0002 | t0001 | g0179 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02132 | hp2 | a0001 | c0012 | t0002 | g0126 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02145 | hp1 | a0001 | c0001 | t0003 | g0028 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0160 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02148 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02148 | hp2 | a0001 | c0001 | t0002 | g0007 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02155 | hp1 | a0001 | c0001 | t0003 | g0174 | EAS | CDX | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02155 | hp2 | a0001 | c0002 | t0001 | g0178 | EAS | CDX | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02165 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | CDX | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02165 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | CDX | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02258 | hp1 | a0001 | c0001 | t0005 | g0167 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02258 | hp2 | a0003 | c0005 | t0007 | g0176 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02280 | hp1 | a0001 | c0004 | t0001 | g0019 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02280 | hp2 | a0001 | c0001 | t0005 | g0038 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02293 | hp1 | a0001 | c0001 | t0002 | g0144 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02293 | hp2 | a0001 | c0001 | t0002 | g0002 | AMR | PEL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02523 | hp1 | a0006 | c0017 | t0001 | g0101 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02523 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | KHV | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02602 | hp1 | a0001 | c0001 | t0003 | g0003 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02602 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02615 | hp1 | a0001 | c0001 | t0003 | g0087 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02615 | hp2 | a0001 | c0001 | t0003 | g0094 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02622 | hp1 | a0001 | c0004 | t0001 | g0115 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02622 | hp2 | a0001 | c0001 | t0003 | g0031 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02630 | hp1 | a0002 | c0003 | t0004 | g0011 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02630 | hp2 | a0002 | c0003 | t0004 | g0017 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02647 | hp1 | a0001 | c0001 | t0005 | g0029 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02647 | hp2 | a0003 | c0005 | t0007 | g0121 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02683 | hp1 | a0001 | c0001 | t0002 | g0008 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02683 | hp2 | a0001 | c0004 | t0001 | g0047 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02723 | hp1 | a0002 | c0003 | t0003 | g0118 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02723 | hp2 | a0001 | c0001 | t0003 | g0169 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02735 | hp1 | a0001 | c0002 | t0001 | g0023 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02735 | hp2 | a0001 | c0004 | t0002 | g0111 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02809 | hp1 | a0001 | c0006 | t0010 | g0172 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02809 | hp2 | a0002 | c0003 | t0004 | g0177 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02818 | hp1 | a0002 | c0003 | t0004 | g0017 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02818 | hp2 | a0002 | c0003 | t0004 | g0011 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02886 | hp1 | a0001 | c0001 | t0002 | g0170 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02886 | hp2 | a0002 | c0003 | t0004 | g0033 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02896 | hp1 | a0002 | c0003 | t0006 | g0158 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02896 | hp2 | a0002 | c0010 | t0001 | g0042 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02922 | hp1 | a0001 | c0001 | t0003 | g0031 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02922 | hp2 | a0001 | c0001 | t0005 | g0030 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02965 | hp1 | a0001 | c0001 | t0003 | g0153 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02965 | hp2 | a0002 | c0003 | t0006 | g0016 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03017 | hp1 | a0001 | c0001 | t0002 | g0008 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03017 | hp2 | a0001 | c0001 | t0003 | g0103 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03041 | hp1 | a0001 | c0001 | t0008 | g0034 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03041 | hp2 | a0002 | c0003 | t0004 | g0107 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03098 | hp1 | a0001 | c0006 | t0010 | g0082 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03098 | hp2 | a0002 | c0003 | t0006 | g0016 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03130 | hp1 | a0001 | c0001 | t0003 | g0091 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03130 | hp2 | a0002 | c0003 | t0004 | g0117 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03139 | hp1 | a0001 | c0004 | t0001 | g0019 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03139 | hp2 | a0002 | c0003 | t0004 | g0162 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03195 | hp1 | a0003 | c0005 | t0007 | g0131 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03195 | hp2 | a0002 | c0003 | t0004 | g0010 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03209 | hp1 | a0001 | c0001 | t0002 | g0041 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03209 | hp2 | a0002 | c0003 | t0004 | g0106 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03225 | hp1 | a0002 | c0003 | t0004 | g0113 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03225 | hp2 | a0001 | c0001 | t0003 | g0046 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03239 | hp1 | a0001 | c0002 | t0001 | g0023 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03239 | hp2 | a0001 | c0002 | t0001 | g0063 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0161 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03453 | hp2 | a0001 | c0001 | t0008 | g0034 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03486 | hp1 | a0001 | c0001 | t0003 | g0154 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03486 | hp2 | a0002 | c0003 | t0004 | g0163 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03516 | hp1 | a0002 | c0003 | t0004 | g0037 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03516 | hp2 | a0002 | c0003 | t0001 | g0173 | AFR | ESN | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03540 | hp1 | a0002 | c0003 | t0004 | g0105 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03540 | hp2 | a0002 | c0003 | t0004 | g0033 | AFR | GWD | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03654 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03654 | hp2 | a0001 | c0006 | t0011 | g0171 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03669 | hp1 | a0001 | c0002 | t0001 | g0062 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03669 | hp2 | a0001 | c0002 | t0001 | g0005 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03688 | hp1 | a0001 | c0001 | t0001 | g0048 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03688 | hp2 | a0007 | c0013 | t0002 | g0128 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03704 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03710 | hp1 | a0001 | c0001 | t0002 | g0007 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03710 | hp2 | a0002 | c0003 | t0004 | g0116 | SAS | PJL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03834 | hp1 | a0001 | c0002 | t0001 | g0001 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03834 | hp2 | a0008 | c0015 | t0012 | g0156 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03927 | hp1 | a0001 | c0002 | t0001 | g0001 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03927 | hp2 | a0001 | c0001 | t0003 | g0081 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03942 | hp1 | a0001 | c0002 | t0001 | g0001 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03942 | hp2 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04115 | hp1 | a0001 | c0001 | t0003 | g0003 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04115 | hp2 | a0001 | c0001 | t0002 | g0139 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04184 | hp1 | a0001 | c0001 | t0002 | g0002 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04184 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | BEB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04199 | hp1 | a0001 | c0002 | t0001 | g0006 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04199 | hp2 | a0001 | c0002 | t0001 | g0165 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04204 | hp1 | a0001 | c0001 | t0001 | g0080 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG04204 | hp2 | a0001 | c0001 | t0002 | g0134 | SAS | STU | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18906 | hp1 | a0001 | c0001 | t0003 | g0028 | AFR | YRI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18906 | hp2 | a0003 | c0005 | t0007 | g0020 | AFR | YRI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18939 | hp1 | a0001 | c0001 | t0002 | g0124 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18939 | hp2 | a0001 | c0002 | t0001 | g0061 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18944 | hp1 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18944 | hp2 | a0001 | c0002 | t0001 | g0024 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18945 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18945 | hp2 | a0001 | c0001 | t0003 | g0088 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18946 | hp1 | a0009 | c0018 | t0001 | g0102 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18946 | hp2 | a0001 | c0001 | t0002 | g0014 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18947 | hp1 | a0001 | c0001 | t0002 | g0014 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18947 | hp2 | a0001 | c0001 | t0003 | g0077 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18948 | hp1 | a0001 | c0002 | t0001 | g0141 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18948 | hp2 | a0001 | c0001 | t0002 | g0051 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18952 | hp1 | a0001 | c0002 | t0001 | g0026 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18952 | hp2 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18953 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18953 | hp2 | a0001 | c0001 | t0002 | g0168 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0123 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18954 | hp2 | a0001 | c0001 | t0003 | g0089 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18959 | hp1 | a0004 | c0007 | t0003 | g0079 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18959 | hp2 | a0001 | c0002 | t0001 | g0076 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18961 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18961 | hp2 | a0001 | c0002 | t0001 | g0015 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18962 | hp1 | a0001 | c0002 | t0001 | g0067 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18962 | hp2 | a0001 | c0001 | t0003 | g0095 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18965 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18965 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18966 | hp1 | a0001 | c0001 | t0003 | g0100 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18966 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18969 | hp1 | a0001 | c0002 | t0001 | g0097 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18969 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18971 | hp1 | a0001 | c0002 | t0001 | g0018 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18971 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18977 | hp1 | a0001 | c0001 | t0002 | g0149 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18977 | hp2 | a0001 | c0001 | t0002 | g0127 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18979 | hp1 | a0001 | c0001 | t0002 | g0036 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18979 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18982 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18982 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18983 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18983 | hp2 | a0001 | c0002 | t0001 | g0009 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18984 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18984 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18986 | hp1 | a0001 | c0001 | t0003 | g0083 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18986 | hp2 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18990 | hp1 | a0001 | c0001 | t0002 | g0014 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18990 | hp2 | a0001 | c0002 | t0001 | g0025 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18992 | hp1 | a0001 | c0002 | t0001 | g0070 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18992 | hp2 | a0001 | c0001 | t0003 | g0086 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18993 | hp1 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18993 | hp2 | a0001 | c0002 | t0001 | g0015 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18994 | hp1 | a0001 | c0002 | t0001 | g0072 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18994 | hp2 | a0001 | c0001 | t0002 | g0148 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18995 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18995 | hp2 | a0001 | c0002 | t0001 | g0043 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18997 | hp1 | a0001 | c0002 | t0001 | g0024 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18997 | hp2 | a0001 | c0002 | t0001 | g0018 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18998 | hp1 | a0001 | c0001 | t0003 | g0093 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA18998 | hp2 | a0001 | c0002 | t0001 | g0065 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19000 | hp1 | a0001 | c0002 | t0001 | g0071 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19000 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19002 | hp1 | a0001 | c0002 | t0001 | g0120 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19002 | hp2 | a0001 | c0001 | t0003 | g0049 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19003 | hp1 | a0001 | c0002 | t0001 | g0045 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19003 | hp2 | a0001 | c0001 | t0003 | g0003 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19007 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19007 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19012 | hp1 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19012 | hp2 | a0001 | c0002 | t0001 | g0009 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19030 | hp1 | a0003 | c0005 | t0007 | g0020 | AFR | LWK | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19030 | hp2 | a0002 | c0003 | t0006 | g0136 | AFR | LWK | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19043 | hp1 | a0002 | c0003 | t0004 | g0010 | AFR | LWK | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19043 | hp2 | a0001 | c0001 | t0009 | g0155 | AFR | LWK | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19056 | hp1 | a0001 | c0001 | t0002 | g0135 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19056 | hp2 | a0001 | c0002 | t0001 | g0069 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19057 | hp1 | a0001 | c0001 | t0003 | g0166 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19057 | hp2 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19060 | hp1 | a0001 | c0002 | t0001 | g0025 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19060 | hp2 | a0001 | c0001 | t0002 | g0145 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19063 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19063 | hp2 | a0010 | c0011 | t0002 | g0142 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19066 | hp1 | a0001 | c0001 | t0002 | g0004 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19066 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19074 | hp1 | a0001 | c0001 | t0002 | g0138 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19074 | hp2 | a0001 | c0008 | t0001 | g0073 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19083 | hp1 | a0001 | c0002 | t0001 | g0001 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19083 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19085 | hp1 | a0001 | c0002 | t0001 | g0026 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0013 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19086 | hp1 | a0001 | c0002 | t0001 | g0018 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19086 | hp2 | a0001 | c0001 | t0002 | g0133 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19088 | hp1 | a0001 | c0001 | t0003 | g0092 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19088 | hp2 | a0001 | c0002 | t0002 | g0022 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19090 | hp1 | a0001 | c0001 | t0002 | g0146 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19090 | hp2 | a0001 | c0001 | t0003 | g0039 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19091 | hp1 | a0001 | c0001 | t0002 | g0137 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19091 | hp2 | a0001 | c0002 | t0001 | g0005 | EAS | JPT | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19240 | hp1 | a0001 | c0001 | t0005 | g0030 | AFR | YRI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA19240 | hp2 | a0002 | c0003 | t0006 | g0016 | AFR | YRI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20752 | hp1 | a0001 | c0014 | t0001 | g0057 | EUR | TSI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20752 | hp2 | a0001 | c0002 | t0001 | g0001 | EUR | TSI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20805 | hp1 | a0001 | c0002 | t0001 | g0104 | EUR | TSI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20805 | hp2 | a0001 | c0002 | t0001 | g0001 | EUR | TSI | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20905 | hp1 | a0001 | c0001 | t0002 | g0008 | SAS | GIH | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20905 | hp2 | a0001 | c0002 | t0001 | g0001 | SAS | GIH | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01123 | hp1 | a0001 | c0004 | t0001 | g0055 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG01123 | hp2 | a0001 | c0002 | t0001 | g0001 | AMR | CLM | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02559 | hp1 | a0002 | c0003 | t0004 | g0017 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG02559 | hp2 | a0001 | c0001 | t0005 | g0029 | AFR | ACB | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03471 | hp1 | a0001 | c0001 | t0002 | g0040 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG03471 | hp2 | a0002 | c0003 | t0001 | g0109 | AFR | MSL | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG06807 | hp1 | a0001 | c0001 | t0009 | g0152 | AFR | USA | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| HG06807 | hp2 | a0001 | c0001 | t0003 | g0085 | AFR | USA | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20300 | hp1 | a0001 | c0001 | t0002 | g0122 | AFR | USA | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA20300 | hp2 | a0002 | c0003 | t0004 | g0011 | AFR | USA | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA21309 | hp1 | a0001 | c0009 | t0003 | g0151 | AFR | LWK | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| NA21309 | hp2 | a0001 | c0001 | t0005 | g0044 | AFR | LWK | CBS_chr21_43048191_43080835 | CBS | chr21 | 43048191 | 43080835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43053920 | A | G | 1 | a0010 | 1 | NA19063.hp2 | missense_variant | MODERATE | c.1616T>C | p.Leu539Ser | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 1766/2495 | 1616/1656 | 539/551 | chr21 | 43053920 | |||
| chr21:43063020 | G | A | 1 | a0007 | 1 | HG03688.hp2 | missense_variant | MODERATE | c.887C>T | p.Thr296Met | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/17 | 1037/2495 | 887/1656 | 296/551 | chr21 | 43063020 | |||
| chr21:43063074 | A | ATGATCTG others(61): Show |
2 | a0002 a0008 |
40 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show |
frameshift_variant&stop_gained | HIGH | c.832_833insCTGGGGTG others(60): Show |
p.Ile278fs | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/17 | 982/2495 | 832/1656 | 278/551 | chr21 | 43063074 | |||
| chr21:43063074 | A | ATGATCTG others(61): Show |
1 | a0002 | 1 | HG02896.hp2 | frameshift_variant&stop_gained | HIGH | c.832_833insCTGGGGTG others(60): Show |
p.Ile278fs | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/17 | 982/2495 | 832/1656 | 278/551 | chr21 | 43063074 | |||
| chr21:43068521 | T | G | 1 | a0003 | 5 | HG02258.hp2 HG02647.hp2 HG03195.hp1 others(2): Show |
missense_variant | MODERATE | c.304A>C | p.Lys102Gln | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/17 | 454/2495 | 304/1656 | 102/551 | chr21 | 43068521 | |||
| chr21:43068610 | T | A | 1 | a0004 | 3 | HG02027.hp2 HG02129.hp2 NA18959.hp1 |
missense_variant | MODERATE | c.215A>T | p.Lys72Ile | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/17 | 365/2495 | 215/1656 | 72/551 | chr21 | 43068610 | |||
| chr21:43072061 | G | A | 1 | a0008 | 1 | HG03834.hp2 | missense_variant | MODERATE | c.133C>T | p.Arg45Trp | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/17 | 283/2495 | 133/1656 | 45/551 | chr21 | 43072061 | |||
| chr21:43072097 | G | A | 1 | a0005 | 1 | HG01993.hp2 | missense_variant | MODERATE | c.97C>T | p.Pro33Ser | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/17 | 247/2495 | 97/1656 | 33/551 | chr21 | 43072097 | |||
| chr21:43072142 | G | A | 1 | a0006 | 1 | HG02523.hp1 | missense_variant | MODERATE | c.52C>T | p.Arg18Cys | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/17 | 202/2495 | 52/1656 | 18/551 | chr21 | 43072142 | |||
| chr21:43072178 | G | A | 1 | a0009 | 1 | NA18946.hp1 | missense_variant | MODERATE | c.16C>T | p.Pro6Ser | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/17 | 166/2495 | 16/1656 | 6/551 | chr21 | 43072178 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43053904 | G | A | 1 | a0001c0012 | 1 | HG02132.hp2 | synonymous_variant | LOW | c.1632C>T | p.Ala544Ala | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 1782/2495 | 1632/1656 | 544/551 | chr21 | 43053904 | |||
| chr21:43060506 | G | A | 5 | a0001c0002 a0001c0008 a0001c0014 others(2): Show |
93 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(90): Show |
synonymous_variant | LOW | c.1080C>T | p.Ala360Ala | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/17 | 1230/2495 | 1080/1656 | 360/551 | chr21 | 43060506 | |||
| chr21:43065240 | G | A | 3 | a0001c0004 a0001c0014 a0003c0005 |
17 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(14): Show |
synonymous_variant | LOW | c.699C>T | p.Tyr233Tyr | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/17 | 849/2495 | 699/1656 | 233/551 | chr21 | 43065240 | |||
| chr21:43065441 | C | G | 1 | a0001c0009 | 1 | NA21309.hp1 | synonymous_variant | LOW | c.612G>C | p.Val204Val | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 7/17 | 762/2495 | 612/1656 | 204/551 | chr21 | 43065441 | |||
| chr21:43065480 | C | T | 1 | a0001c0006 | 3 | HG02809.hp1 HG03098.hp1 HG03654.hp2 |
synonymous_variant | LOW | c.573G>A | p.Thr191Thr | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 7/17 | 723/2495 | 573/1656 | 191/551 | chr21 | 43065480 | |||
| chr21:43066352 | C | T | 1 | a0001c0008 | 1 | NA19074.hp2 | synonymous_variant | LOW | c.342G>A | p.Ala114Ala | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/17 | 492/2495 | 342/1656 | 114/551 | chr21 | 43066352 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43053314 | C | T | 1 | a0001c0001t0009 | 2 | HG06807.hp1 NA19043.hp2 |
3_prime_UTR_variant | MODIFIER | c.*566G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 566 | chr21 | 43053314 | ||||||
| chr21:43053315 | G | A | 10 | a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(7): Show |
108 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(105): Show |
3_prime_UTR_variant | MODIFIER | c.*565C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 565 | chr21 | 43053315 | ||||||
| chr21:43053336 | A | G | 10 | a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(7): Show |
108 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(105): Show |
3_prime_UTR_variant | MODIFIER | c.*544T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 544 | chr21 | 43053336 | ||||||
| chr21:43053340 | C | T | 2 | a0001c0006t0011 a0002c0003t0006 |
7 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*540G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 540 | chr21 | 43053340 | ||||||
| chr21:43053497 | G | A | 1 | a0001c0001t0005 | 9 | HG01884.hp1 HG01884.hp2 HG02258.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*383C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 383 | chr21 | 43053497 | ||||||
| chr21:43053581 | C | T | 1 | a0002c0003t0004 | 30 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*299G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 299 | chr21 | 43053581 | ||||||
| chr21:43053757 | G | C | 8 | a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 others(5): Show |
88 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(85): Show |
3_prime_UTR_variant | MODIFIER | c.*123C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 123 | chr21 | 43053757 | ||||||
| chr21:43053772 | TGCCAG | T | 2 | a0001c0001t0008 a0002c0003t0004 |
32 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(29): Show |
3_prime_UTR_variant | MODIFIER | c.*103_*107delCTGGC | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 103 | chr21 | 43053772 | ||||||
| chr21:43053799 | C | T | 1 | a0003c0005t0007 | 5 | HG02258.hp2 HG02647.hp2 HG03195.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*81G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 81 | chr21 | 43053799 | ||||||
| chr21:43053805 | T | C | 1 | a0008c0015t0012 | 1 | HG03834.hp2 | 3_prime_UTR_variant | MODIFIER | c.*75A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 75 | chr21 | 43053805 | ||||||
| chr21:43053853 | G | A | 1 | a0001c0006t0010 | 2 | HG02809.hp1 HG03098.hp1 |
3_prime_UTR_variant | MODIFIER | c.*27C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 27 | chr21 | 43053853 | ||||||
| chr21:43053870 | G | T | 3 | a0001c0001t0008 a0002c0003t0004 a0002c0003t0006 |
38 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(35): Show |
3_prime_UTR_variant | MODIFIER | c.*10C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 17/17 | 10 | chr21 | 43053870 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr21:43054031 | G | A | 1 | a0002c0003t0001g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1553-48C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054031 | |||||||
| chr21:43054084 | A | G | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1553-101T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054084 | |||||||
| chr21:43054116 | G | A | 1 | a0002c0003t0004g0107 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1553-133C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054116 | |||||||
| chr21:43054129 | CT | C | 5 | a0001c0001t0003g0028 a0001c0001t0003g0085 a0001c0001t0003g0094 others(2): Show |
6 | HG02145.hp1 HG02615.hp2 HG02723.hp1 others(3): Show |
intron_variant | MODIFIER | c.1553-147delA | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054129 | |||||||
| chr21:43054192 | T | C | 1 | a0001c0001t0003g0088 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1553-209A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054192 | |||||||
| chr21:43054370 | T | G | 1 | a0001c0001t0003g0078 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1553-387A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054370 | |||||||
| chr21:43054408 | G | T | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1553-425C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054408 | |||||||
| chr21:43054428 | C | A | 1 | a0001c0001t0002g0145 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1553-445G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054428 | |||||||
| chr21:43054553 | G | T | 42 | a0001c0001t0003g0003 a0001c0001t0003g0028 a0001c0001t0003g0031 others(39): Show |
55 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.1553-570C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054553 | |||||||
| chr21:43054594 | G | A | 4 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(1): Show |
6 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1553-611C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054594 | |||||||
| chr21:43054609 | C | G | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1553-626G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054609 | |||||||
| chr21:43054610 | C | T | 1 | a0001c0001t0003g0166 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1553-627G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054610 | |||||||
| chr21:43054622 | C | T | 1 | a0002c0003t0004g0107 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1553-639G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054622 | |||||||
| chr21:43054680 | C | T | 1 | a0001c0006t0010g0172 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1553-697G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054680 | |||||||
| chr21:43054712 | G | A | 1 | a0001c0002t0001g0065 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1553-729C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054712 | |||||||
| chr21:43054723 | A | T | 45 | a0001c0001t0001g0080 a0001c0002t0001g0001 a0001c0002t0001g0005 others(42): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.1553-740T>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054723 | |||||||
| chr21:43054737 | C | T | 49 | a0001c0001t0001g0080 a0001c0002t0001g0001 a0001c0002t0001g0005 others(46): Show |
97 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(94): Show |
intron_variant | MODIFIER | c.1553-754G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054737 | |||||||
| chr21:43054839 | C | T | 21 | a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0017 others(18): Show |
30 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.1553-856G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43054839 | |||||||
| chr21:43055026 | G | A | 1 | a0002c0003t0001g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1553-1043C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055026 | |||||||
| chr21:43055031 | T | C | 1 | a0001c0001t0008g0034 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1553-1048A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055031 | |||||||
| chr21:43055039 | C | T | 6 | a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0099 others(3): Show |
7 | HG00438.hp2 HG02027.hp2 HG02056.hp2 others(4): Show |
intron_variant | MODIFIER | c.1553-1056G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055039 | |||||||
| chr21:43055052 | A | G | 21 | a0002c0003t0004g0010 a0002c0003t0004g0011 a0002c0003t0004g0017 others(18): Show |
30 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(27): Show |
intron_variant | MODIFIER | c.1553-1069T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055052 | |||||||
| chr21:43055123 | G | A | 1 | a0001c0001t0002g0170 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1553-1140C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055123 | |||||||
| chr21:43055251 | T | C | 1 | a0001c0001t0008g0034 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1553-1268A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055251 | |||||||
| chr21:43055272 | C | G | 1 | a0002c0003t0001g0109 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1553-1289G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055272 | |||||||
| chr21:43055406 | G | A | 1 | a0001c0002t0001g0023 | 2 | HG02735.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1552+1397C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055406 | |||||||
| chr21:43055463 | G | A | 1 | a0001c0001t0009g0152 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1552+1340C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055463 | |||||||
| chr21:43055570 | T | C | 48 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(45): Show |
96 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(93): Show |
intron_variant | MODIFIER | c.1552+1233A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055570 | |||||||
| chr21:43055604 | T | C | 92 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(89): Show |
153 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(150): Show |
intron_variant | MODIFIER | c.1552+1199A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055604 | |||||||
| chr21:43055676 | C | T | 132 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0003g0003 others(129): Show |
207 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(204): Show |
intron_variant | MODIFIER | c.1552+1127G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055676 | |||||||
| chr21:43055686 | T | C | 131 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0003g0003 others(128): Show |
206 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(203): Show |
intron_variant | MODIFIER | c.1552+1117A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055686 | |||||||
| chr21:43055729 | G | A | 4 | a0003c0005t0007g0020 a0003c0005t0007g0121 a0003c0005t0007g0131 others(1): Show |
5 | HG02258.hp2 HG02647.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.1552+1074C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055729 | |||||||
| chr21:43055766 | C | T | 10 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(7): Show |
12 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.1552+1037G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055766 | |||||||
| chr21:43055767 | C | T | 44 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(41): Show |
57 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(54): Show |
intron_variant | MODIFIER | c.1552+1036G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055767 | |||||||
| chr21:43055772 | C | T | 3 | a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0009t0003g0151 |
3 | HG02965.hp1 HG03486.hp1 NA21309.hp1 |
intron_variant | MODIFIER | c.1552+1031G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055772 | |||||||
| chr21:43055843 | T | C | 2 | a0001c0004t0002g0111 a0008c0015t0012g0156 |
2 | HG02735.hp2 HG03834.hp2 |
intron_variant | MODIFIER | c.1552+960A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43055843 | |||||||
| chr21:43056069 | C | G | 2 | a0001c0001t0002g0135 a0001c0001t0002g0145 |
2 | NA19056.hp1 NA19060.hp2 |
intron_variant | MODIFIER | c.1552+734G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43056069 | |||||||
| chr21:43056116 | G | A | 1 | a0001c0004t0001g0115 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.1552+687C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43056116 | |||||||
| chr21:43056602 | C | T | 1 | a0002c0003t0004g0017 | 3 | HG02559.hp1 HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1552+201G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43056602 | |||||||
| chr21:43056649 | A | G | 170 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0004 others(167): Show |
264 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(261): Show |
intron_variant | MODIFIER | c.1552+154T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43056649 | |||||||
| chr21:43056703 | C | A | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1552+100G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 16/16 | chr21 | 43056703 | |||||||
| chr21:43056923 | T | C | 45 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(42): Show |
58 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(55): Show |
intron_variant | MODIFIER | c.1468-36A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43056923 | |||||||
| chr21:43056985 | C | T | 45 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(42): Show |
58 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(55): Show |
intron_variant | MODIFIER | c.1468-98G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43056985 | |||||||
| chr21:43057019 | T | G | 1 | a0001c0001t0008g0034 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1468-132A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057019 | |||||||
| chr21:43057025 | C | T | 1 | a0002c0003t0004g0110 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.1468-138G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057025 | |||||||
| chr21:43057099 | G | A | 1 | a0001c0001t0002g0040 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1468-212C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057099 | |||||||
| chr21:43057106 | C | T | 1 | a0002c0003t0004g0017 | 3 | HG02559.hp1 HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1468-219G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057106 | |||||||
| chr21:43057190 | G | C | 1 | a0001c0002t0001g0074 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1468-303C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057190 | |||||||
| chr21:43057215 | C | T | 1 | a0001c0006t0010g0172 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.1468-328G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057215 | |||||||
| chr21:43057254 | C | T | 1 | a0001c0001t0002g0134 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1468-367G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057254 | |||||||
| chr21:43057304 | A | G | 3 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0150 |
3 | HG02055.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.1468-417T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057304 | |||||||
| chr21:43057337 | C | T | 1 | a0001c0002t0001g0071 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.1468-450G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057337 | |||||||
| chr21:43057397 | C | T | 1 | a0001c0001t0003g0174 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1468-510G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057397 | |||||||
| chr21:43057433 | G | C | 145 | a0001c0001t0001g0048 a0001c0001t0002g0004 a0001c0001t0002g0008 others(142): Show |
231 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.1468-546C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057433 | |||||||
| chr21:43057514 | T | C | 2 | a0001c0001t0002g0149 a0010c0011t0002g0142 |
2 | NA18977.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.1468-627A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057514 | |||||||
| chr21:43057555 | G | A | 1 | a0002c0003t0001g0109 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.1467+590C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057555 | |||||||
| chr21:43057629 | G | C | 1 | a0002c0003t0004g0017 | 3 | HG02559.hp1 HG02630.hp2 HG02818.hp1 |
intron_variant | MODIFIER | c.1467+516C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057629 | |||||||
| chr21:43057659 | T | C | 1 | a0001c0001t0003g0046 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1467+486A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057659 | |||||||
| chr21:43057681 | T | TGTTTGAG others(24): Show |
1 | a0001c0001t0008g0034 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1467+463_1467+464i others(33): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057681 | |||||||
| chr21:43057693 | C | CTGTAGCT others(24): Show |
16 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(13): Show |
20 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.1467+451_1467+452i others(33): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057693 | |||||||
| chr21:43057699 | C | CTGACCGG others(86): Show |
1 | a0002c0003t0001g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1467+445_1467+446i others(95): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057699 | |||||||
| chr21:43057712 | T | C | 1 | a0002c0003t0001g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1467+433A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057712 | |||||||
| chr21:43057712 | T | TGTTTGAG others(86): Show |
1 | a0001c0001t0003g0085 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1467+432_1467+433i others(95): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057712 | |||||||
| chr21:43057712 | T | TGTTTGAG others(86): Show |
40 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(37): Show |
53 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(50): Show |
intron_variant | MODIFIER | c.1467+432_1467+433i others(95): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057712 | |||||||
| chr21:43057724 | C | G | 69 | a0001c0001t0003g0077 a0001c0002t0001g0001 a0001c0002t0001g0005 others(66): Show |
125 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.1467+421G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057724 | |||||||
| chr21:43057730 | G | C | 69 | a0001c0001t0003g0077 a0001c0002t0001g0001 a0001c0002t0001g0005 others(66): Show |
125 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.1467+415C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057730 | |||||||
| chr21:43057735 | CGCGCACC others(24): Show |
C | 24 | a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(21): Show |
33 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.1467+379_1467+409d others(33): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057735 | |||||||
| chr21:43057737 | C | G | 45 | a0001c0001t0003g0077 a0001c0002t0001g0001 a0001c0002t0001g0005 others(42): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.1467+408G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057737 | |||||||
| chr21:43057743 | T | C | 44 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(41): Show |
59 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(56): Show |
intron_variant | MODIFIER | c.1467+402A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057743 | |||||||
| chr21:43057761 | G | C | 1 | a0001c0001t0003g0077 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1467+384C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057761 | |||||||
| chr21:43057766 | T | C | 96 | a0001c0001t0001g0080 a0001c0001t0002g0014 a0001c0001t0002g0096 others(93): Show |
159 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(156): Show |
intron_variant | MODIFIER | c.1467+379A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057766 | |||||||
| chr21:43057768 | G | C | 45 | a0001c0001t0003g0046 a0001c0002t0001g0001 a0001c0002t0001g0005 others(42): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.1467+377C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057768 | |||||||
| chr21:43057774 | C | T | 68 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(65): Show |
124 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.1467+371G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057774 | |||||||
| chr21:43057775 | G | T | 6 | a0001c0001t0008g0034 a0001c0006t0011g0171 a0002c0003t0006g0016 others(3): Show |
9 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(6): Show |
intron_variant | MODIFIER | c.1467+370C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057775 | |||||||
| chr21:43057799 | C | G | 45 | a0001c0001t0003g0046 a0001c0002t0001g0001 a0001c0002t0001g0005 others(42): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.1467+346G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057799 | |||||||
| chr21:43057805 | C | T | 23 | a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(20): Show |
32 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.1467+340G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057805 | |||||||
| chr21:43057806 | G | T | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+339C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057806 | |||||||
| chr21:43057828 | C | T | 35 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(32): Show |
46 | HG00099.hp2 HG00280.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.1467+317G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057828 | |||||||
| chr21:43057830 | G | C | 45 | a0001c0001t0003g0046 a0001c0002t0001g0001 a0001c0002t0001g0005 others(42): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.1467+315C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057830 | |||||||
| chr21:43057830 | G | GGCACCCG others(86): Show |
1 | a0001c0001t0003g0077 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1467+314_1467+315i others(95): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057830 | |||||||
| chr21:43057861 | G | C | 24 | a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(21): Show |
33 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.1467+284C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057861 | |||||||
| chr21:43057890 | T | C | 158 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0004 others(155): Show |
251 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(248): Show |
intron_variant | MODIFIER | c.1467+255A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057890 | |||||||
| chr21:43057900 | T | TTTGAGCT others(24): Show |
1 | a0001c0001t0003g0046 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1467+244_1467+245i others(33): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057900 | |||||||
| chr21:43057923 | C | G | 45 | a0001c0001t0003g0077 a0001c0002t0001g0001 a0001c0002t0001g0005 others(42): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.1467+222G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057923 | |||||||
| chr21:43057929 | C | T | 1 | a0001c0001t0009g0152 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1467+216G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057929 | |||||||
| chr21:43057931 | C | T | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+214G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057931 | |||||||
| chr21:43057937 | C | G | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1467+208G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057937 | |||||||
| chr21:43057947 | C | G | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+198G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057947 | |||||||
| chr21:43057954 | C | T | 4 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(1): Show |
6 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.1467+191G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057954 | |||||||
| chr21:43057960 | T | C | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+185A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057960 | |||||||
| chr21:43057962 | T | C | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+183A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057962 | |||||||
| chr21:43057978 | G | C | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+167C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057978 | |||||||
| chr21:43057985 | G | C | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+160C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057985 | |||||||
| chr21:43057987 | T | C | 47 | a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0095 others(44): Show |
94 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(91): Show |
intron_variant | MODIFIER | c.1467+158A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057987 | |||||||
| chr21:43057991 | T | C | 3 | a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0095 |
3 | NA18954.hp2 NA18962.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.1467+154A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43057991 | |||||||
| chr21:43058016 | C | G | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+129G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058016 | |||||||
| chr21:43058017 | T | G | 47 | a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0095 others(44): Show |
94 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(91): Show |
intron_variant | MODIFIER | c.1467+128A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058017 | |||||||
| chr21:43058018 | C | T | 44 | a0001c0002t0001g0001 a0001c0002t0001g0005 a0001c0002t0001g0006 others(41): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.1467+127G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058018 | |||||||
| chr21:43058022 | T | C | 3 | a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0095 |
3 | NA18954.hp2 NA18962.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.1467+123A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058022 | |||||||
| chr21:43058024 | T | C | 3 | a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0095 |
3 | NA18954.hp2 NA18962.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.1467+121A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058024 | |||||||
| chr21:43058040 | G | C | 3 | a0001c0001t0003g0083 a0001c0001t0003g0089 a0001c0001t0003g0095 |
3 | NA18954.hp2 NA18962.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.1467+105C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058040 | |||||||
| chr21:43058107 | T | C | 1 | a0001c0014t0001g0057 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.1467+38A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 15/16 | chr21 | 43058107 | |||||||
| chr21:43058282 | C | T | 1 | a0001c0002t0001g0064 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.1359-29G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058282 | |||||||
| chr21:43058283 | G | A | 36 | a0001c0001t0001g0048 a0001c0001t0008g0034 a0001c0004t0001g0019 others(33): Show |
48 | HG00099.hp2 HG00280.hp2 HG01070.hp1 others(45): Show |
intron_variant | MODIFIER | c.1359-30C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058283 | |||||||
| chr21:43058296 | C | T | 1 | a0001c0001t0005g0090 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1359-43G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058296 | |||||||
| chr21:43058387 | C | T | 34 | a0001c0001t0001g0048 a0001c0001t0008g0034 a0001c0004t0001g0019 others(31): Show |
46 | HG00099.hp2 HG00280.hp2 HG01070.hp1 others(43): Show |
intron_variant | MODIFIER | c.1359-134G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058387 | |||||||
| chr21:43058406 | C | G | 1 | a0002c0003t0004g0105 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.1359-153G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058406 | |||||||
| chr21:43058472 | G | A | 9 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(6): Show |
11 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(8): Show |
intron_variant | MODIFIER | c.1359-219C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058472 | |||||||
| chr21:43058550 | G | C | 1 | a0001c0001t0002g0170 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1358+284C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058550 | |||||||
| chr21:43058570 | T | C | 38 | a0001c0001t0001g0048 a0001c0001t0008g0034 a0001c0004t0001g0019 others(35): Show |
51 | HG00099.hp2 HG00280.hp2 HG01070.hp1 others(48): Show |
intron_variant | MODIFIER | c.1358+264A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 14/16 | chr21 | 43058570 | |||||||
| chr21:43059013 | G | A | 1 | a0001c0001t0002g0130 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1224-45C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 13/16 | chr21 | 43059013 | |||||||
| chr21:43059054 | AGGGACCG others(42): Show |
A | 3 | a0001c0002t0001g0062 a0001c0002t0001g0165 a0002c0003t0004g0107 |
3 | HG03041.hp2 HG03669.hp1 HG04199.hp2 |
intron_variant | MODIFIER | c.1223+123_1224-87de others(50): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 13/16 | chr21 | 43059054 | |||||||
| chr21:43059204 | G | A | 1 | a0001c0002t0001g0097 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.1223+22C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 13/16 | chr21 | 43059204 | |||||||
| chr21:43059213 | C | T | 1 | a0001c0001t0002g0147 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.1223+13G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 13/16 | chr21 | 43059213 | |||||||
| chr21:43059214 | G | A | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.1223+12C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 13/16 | chr21 | 43059214 | |||||||
| chr21:43059591 | A | G | 51 | a0001c0001t0002g0129 a0001c0001t0008g0034 a0001c0002t0001g0001 others(48): Show |
101 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(98): Show |
intron_variant | MODIFIER | c.1146-288T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059591 | |||||||
| chr21:43059652 | G | A | 1 | a0001c0001t0002g0122 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1146-349C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059652 | |||||||
| chr21:43059698 | C | T | 42 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(39): Show |
55 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.1146-395G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059698 | |||||||
| chr21:43059741 | G | C | 2 | a0002c0003t0001g0109 a0002c0003t0001g0173 |
2 | HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1146-438C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059741 | |||||||
| chr21:43059748 | C | T | 1 | a0001c0002t0001g0104 | 1 | NA20805.hp1 | intron_variant | MODIFIER | c.1146-445G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059748 | |||||||
| chr21:43059754 | C | A | 1 | a0001c0002t0001g0045 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1146-451G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059754 | |||||||
| chr21:43059861 | A | AC | 3 | a0001c0001t0002g0133 a0001c0001t0002g0181 a0002c0003t0006g0136 |
3 | HG01978.hp2 NA19030.hp2 NA19086.hp2 |
intron_variant | MODIFIER | c.1146-559dupG | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059861 | |||||||
| chr21:43059949 | G | A | 4 | a0001c0002t0001g0024 a0001c0002t0001g0071 a0001c0002t0001g0097 others(1): Show |
5 | NA18944.hp2 NA18969.hp1 NA18997.hp1 others(2): Show |
intron_variant | MODIFIER | c.1145+492C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43059949 | |||||||
| chr21:43060173 | G | A | 28 | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 others(25): Show |
37 | HG00597.hp1 HG00639.hp2 HG00673.hp2 others(34): Show |
intron_variant | MODIFIER | c.1145+268C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43060173 | |||||||
| chr21:43060200 | T | C | 2 | a0002c0003t0001g0109 a0002c0003t0001g0173 |
2 | HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1145+241A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43060200 | |||||||
| chr21:43060434 | G | A | 1 | a0001c0002t0001g0066 | 1 | HG01934.hp2 | splice_region_variant&intron_variant | LOW | c.1145+7C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 12/16 | chr21 | 43060434 | |||||||
| chr21:43060571 | C | T | 1 | a0001c0002t0001g0043 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.1040-25G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060571 | |||||||
| chr21:43060589 | C | T | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.1040-43G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060589 | |||||||
| chr21:43060661 | C | G | 2 | a0001c0001t0003g0087 a0001c0001t0003g0098 |
2 | HG01081.hp2 HG02615.hp1 |
intron_variant | MODIFIER | c.1040-115G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060661 | |||||||
| chr21:43060662 | G | A | 1 | a0001c0012t0002g0126 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.1040-116C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060662 | |||||||
| chr21:43060821 | C | T | 2 | a0002c0003t0001g0109 a0002c0003t0001g0173 |
2 | HG03471.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.1040-275G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060821 | |||||||
| chr21:43060866 | C | G | 1 | a0001c0002t0001g0023 | 2 | HG02735.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1040-320G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060866 | |||||||
| chr21:43060868 | A | G | 42 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(39): Show |
55 | HG00438.hp2 HG00639.hp1 HG01081.hp2 others(52): Show |
intron_variant | MODIFIER | c.1040-322T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060868 | |||||||
| chr21:43060869 | C | T | 4 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0150 others(1): Show |
5 | HG01070.hp1 HG01071.hp1 HG02055.hp2 others(2): Show |
intron_variant | MODIFIER | c.1040-323G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43060869 | |||||||
| chr21:43061059 | T | C | 134 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0003g0003 others(131): Show |
210 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.1040-513A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061059 | |||||||
| chr21:43061217 | G | A | 1 | a0001c0001t0002g0150 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.1040-671C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061217 | |||||||
| chr21:43061250 | CT | C | 106 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0127 others(103): Show |
172 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(169): Show |
intron_variant | MODIFIER | c.1040-705delA | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061250 | |||||||
| chr21:43061319 | GCTCACTG others(15): Show |
G | 1 | a0001c0002t0001g0045 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1040-795_1040-774d others(24): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061319 | |||||||
| chr21:43061414 | C | CT | 89 | a0001c0001t0001g0080 a0001c0001t0002g0139 a0001c0001t0003g0003 others(86): Show |
151 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.1040-869dupA | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061414 | |||||||
| chr21:43061414 | C | CTT | 15 | a0001c0001t0001g0048 a0001c0001t0008g0034 a0001c0002t0001g0060 others(12): Show |
18 | HG00738.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
intron_variant | MODIFIER | c.1040-870_1040-869d others(4): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061414 | |||||||
| chr21:43061414 | C | CTTT | 5 | a0001c0004t0001g0055 a0003c0005t0007g0020 a0003c0005t0007g0121 others(2): Show |
6 | HG01123.hp1 HG02258.hp2 HG02647.hp2 others(3): Show |
intron_variant | MODIFIER | c.1040-871_1040-869d others(5): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061414 | |||||||
| chr21:43061551 | C | T | 1 | a0001c0001t0002g0035 | 2 | HG01261.hp2 HG01346.hp1 |
intron_variant | MODIFIER | c.1039+760G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061551 | |||||||
| chr21:43061618 | G | A | 1 | a0001c0001t0003g0166 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1039+693C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061618 | |||||||
| chr21:43061715 | CAT | C | 41 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(38): Show |
54 | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(51): Show |
intron_variant | MODIFIER | c.1039+594_1039+595d others(4): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061715 | |||||||
| chr21:43061781 | G | A | 1 | a0001c0004t0002g0111 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.1039+530C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061781 | |||||||
| chr21:43061830 | C | T | 41 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(38): Show |
54 | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(51): Show |
intron_variant | MODIFIER | c.1039+481G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061830 | |||||||
| chr21:43061880 | G | A | 1 | a0001c0002t0001g0067 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.1039+431C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061880 | |||||||
| chr21:43061898 | G | C | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.1039+413C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061898 | |||||||
| chr21:43061906 | G | A | 1 | a0001c0002t0001g0075 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.1039+405C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43061906 | |||||||
| chr21:43062201 | T | C | 1 | a0002c0003t0001g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1039+110A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43062201 | |||||||
| chr21:43062212 | T | A | 1 | a0001c0002t0001g0026 | 2 | NA18952.hp1 NA19085.hp1 |
intron_variant | MODIFIER | c.1039+99A>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43062212 | |||||||
| chr21:43062292 | G | A | 2 | a0002c0003t0004g0106 a0002c0003t0004g0107 |
2 | HG03041.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.1039+19C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 11/16 | chr21 | 43062292 | |||||||
| chr21:43062443 | G | A | 2 | a0001c0001t0005g0030 a0001c0001t0005g0090 |
3 | HG01884.hp2 HG02922.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.955-48C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062443 | |||||||
| chr21:43062489 | G | A | 3 | a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0099 |
3 | HG00438.hp2 HG02056.hp2 NA18947.hp2 |
intron_variant | MODIFIER | c.955-94C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062489 | |||||||
| chr21:43062503 | G | T | 3 | a0001c0002t0001g0064 a0001c0002t0001g0182 a0001c0002t0001g0183 |
3 | HG01074.hp2 HG01243.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.955-108C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062503 | |||||||
| chr21:43062622 | G | A | 1 | a0001c0001t0003g0091 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.955-227C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062622 | |||||||
| chr21:43062769 | C | T | 1 | a0001c0009t0003g0151 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.954+184G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062769 | |||||||
| chr21:43062826 | C | A | 1 | a0001c0001t0003g0092 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.954+127G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062826 | |||||||
| chr21:43062826 | C | T | 27 | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 others(24): Show |
35 | HG00639.hp1 HG00639.hp2 HG00673.hp2 others(32): Show |
intron_variant | MODIFIER | c.954+127G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062826 | |||||||
| chr21:43062906 | G | A | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.954+47C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062906 | |||||||
| chr21:43062920 | C | T | 45 | a0001c0001t0001g0080 a0001c0001t0002g0040 a0001c0001t0002g0041 others(42): Show |
58 | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(55): Show |
intron_variant | MODIFIER | c.954+33G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062920 | |||||||
| chr21:43062933 | G | A | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.954+20C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062933 | |||||||
| chr21:43062945 | C | T | 1 | a0002c0003t0004g0112 | 1 | HG01243.hp1 | splice_region_variant&intron_variant | LOW | c.954+8G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 10/16 | chr21 | 43062945 | |||||||
| chr21:43063090 | G | A | 4 | a0001c0002t0001g0009 a0001c0002t0001g0068 a0001c0002t0001g0075 others(1): Show |
6 | HG00423.hp2 HG00544.hp1 HG01257.hp2 others(3): Show |
intron_variant | MODIFIER | c.829-12C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063090 | |||||||
| chr21:43063138 | G | A | 29 | a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(26): Show |
40 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(37): Show |
intron_variant | MODIFIER | c.829-60C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063138 | |||||||
| chr21:43063166 | C | T | 15 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(12): Show |
18 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(15): Show |
intron_variant | MODIFIER | c.829-88G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063166 | |||||||
| chr21:43063343 | C | T | 44 | a0001c0001t0002g0168 a0001c0002t0001g0001 a0001c0002t0001g0005 others(41): Show |
92 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(89): Show |
intron_variant | MODIFIER | c.829-265G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063343 | |||||||
| chr21:43063398 | C | T | 3 | a0001c0002t0001g0064 a0001c0002t0001g0182 a0001c0002t0001g0183 |
3 | HG01074.hp2 HG01243.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.829-320G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063398 | |||||||
| chr21:43063530 | T | G | 1 | a0001c0004t0002g0111 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.828+370A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063530 | |||||||
| chr21:43063610 | C | A | 1 | a0002c0003t0006g0136 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.828+290G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063610 | |||||||
| chr21:43063638 | T | A | 30 | a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(27): Show |
41 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.828+262A>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063638 | |||||||
| chr21:43063662 | C | T | 17 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(14): Show |
20 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(17): Show |
intron_variant | MODIFIER | c.828+238G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063662 | |||||||
| chr21:43063663 | G | A | 34 | a0001c0001t0002g0004 a0001c0001t0002g0008 a0001c0001t0002g0012 others(31): Show |
52 | HG00621.hp2 HG00639.hp1 HG00639.hp2 others(49): Show |
intron_variant | MODIFIER | c.828+237C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063663 | |||||||
| chr21:43063785 | C | T | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.828+115G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063785 | |||||||
| chr21:43063786 | G | A | 3 | a0002c0003t0006g0016 a0002c0003t0006g0158 a0002c0003t0006g0159 |
5 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.828+114C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063786 | |||||||
| chr21:43063854 | G | A | 1 | a0001c0006t0010g0082 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.828+46C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063854 | |||||||
| chr21:43063864 | C | T | 1 | a0001c0004t0002g0111 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.828+36G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063864 | |||||||
| chr21:43063877 | T | C | 30 | a0002c0003t0001g0109 a0002c0003t0001g0173 a0002c0003t0003g0118 others(27): Show |
41 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(38): Show |
intron_variant | MODIFIER | c.828+23A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 9/16 | chr21 | 43063877 | |||||||
| chr21:43064165 | A | G | 3 | a0003c0005t0007g0020 a0003c0005t0007g0121 a0003c0005t0007g0131 |
4 | HG02647.hp2 HG03195.hp1 NA18906.hp2 others(1): Show |
intron_variant | MODIFIER | c.737-174T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064165 | |||||||
| chr21:43064216 | G | A | 1 | a0001c0001t0008g0034 | 2 | HG03041.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.737-225C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064216 | |||||||
| chr21:43064334 | G | A | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.737-343C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064334 | |||||||
| chr21:43064486 | C | T | 3 | a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0150 |
3 | HG02055.hp2 HG03209.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.737-495G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064486 | |||||||
| chr21:43064613 | G | A | 66 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(63): Show |
88 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.736+590C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064613 | |||||||
| chr21:43064632 | C | T | 23 | a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(20): Show |
32 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.736+571G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064632 | |||||||
| chr21:43064696 | T | C | 4 | a0003c0005t0007g0020 a0003c0005t0007g0121 a0003c0005t0007g0131 others(1): Show |
5 | HG02258.hp2 HG02647.hp2 HG03195.hp1 others(2): Show |
intron_variant | MODIFIER | c.736+507A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064696 | |||||||
| chr21:43064908 | C | T | 5 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(2): Show |
7 | HG01109.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.736+295G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064908 | |||||||
| chr21:43064921 | A | C | 5 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(2): Show |
7 | HG01109.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.736+282T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064921 | |||||||
| chr21:43064922 | T | G | 5 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(2): Show |
7 | HG01109.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.736+281A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43064922 | |||||||
| chr21:43065187 | G | A | 1 | a0001c0001t0003g0093 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.736+16C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 8/16 | chr21 | 43065187 | |||||||
| chr21:43065605 | C | T | 1 | a0001c0004t0001g0055 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.531+11G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 6/16 | chr21 | 43065605 | |||||||
| chr21:43065881 | A | C | 1 | a0001c0002t0001g0071 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.452-186T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43065881 | |||||||
| chr21:43065903 | C | T | 1 | a0001c0001t0002g0052 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.452-208G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43065903 | |||||||
| chr21:43065994 | G | A | 6 | a0001c0001t0002g0013 a0001c0001t0002g0052 a0001c0001t0002g0053 others(3): Show |
8 | HG01496.hp1 HG02071.hp1 NA18952.hp2 others(5): Show |
intron_variant | MODIFIER | c.451+249C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43065994 | |||||||
| chr21:43066067 | T | G | 1 | a0001c0002t0001g0076 | 1 | NA18959.hp2 | intron_variant | MODIFIER | c.451+176A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066067 | |||||||
| chr21:43066101 | C | A | 2 | a0001c0001t0002g0014 a0001c0001t0002g0137 |
4 | NA18946.hp2 NA18947.hp1 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.451+142G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066101 | |||||||
| chr21:43066101 | C | T | 10 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(7): Show |
12 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.451+142G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066101 | |||||||
| chr21:43066102 | G | A | 2 | a0001c0001t0002g0014 a0001c0001t0002g0137 |
4 | NA18946.hp2 NA18947.hp1 NA18990.hp1 others(1): Show |
intron_variant | MODIFIER | c.451+141C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066102 | |||||||
| chr21:43066161 | G | T | 2 | a0001c0002t0001g0045 a0001c0004t0002g0111 |
2 | HG02735.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.451+82C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066161 | |||||||
| chr21:43066168 | C | T | 44 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(41): Show |
58 | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(55): Show |
intron_variant | MODIFIER | c.451+75G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066168 | |||||||
| chr21:43066214 | T | C | 68 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0003g0003 others(65): Show |
87 | HG00438.hp2 HG01070.hp1 HG01071.hp1 others(84): Show |
intron_variant | MODIFIER | c.451+29A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 5/16 | chr21 | 43066214 | |||||||
| chr21:43066424 | C | G | 1 | a0001c0002t0001g0063 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.317-47G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066424 | |||||||
| chr21:43066593 | C | T | 44 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(41): Show |
58 | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(55): Show |
intron_variant | MODIFIER | c.317-216G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066593 | |||||||
| chr21:43066677 | C | G | 1 | a0010c0011t0002g0142 | 1 | NA19063.hp2 | intron_variant | MODIFIER | c.317-300G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066677 | |||||||
| chr21:43066696 | T | C | 1 | a0001c0001t0003g0031 | 2 | HG02622.hp2 HG02922.hp1 |
intron_variant | MODIFIER | c.317-319A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066696 | |||||||
| chr21:43066854 | C | T | 90 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0003g0003 others(87): Show |
118 | HG00099.hp2 HG00280.hp2 HG00438.hp2 others(115): Show |
intron_variant | MODIFIER | c.317-477G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066854 | |||||||
| chr21:43066897 | G | A | 2 | a0001c0002t0001g0045 a0001c0004t0002g0111 |
2 | HG02735.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.317-520C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066897 | |||||||
| chr21:43066942 | C | T | 4 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(1): Show |
6 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.317-565G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066942 | |||||||
| chr21:43066948 | G | A | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.317-571C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066948 | |||||||
| chr21:43066951 | C | T | 1 | a0001c0002t0001g0062 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.317-574G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43066951 | |||||||
| chr21:43067001 | C | A | 2 | a0001c0002t0001g0045 a0001c0004t0002g0111 |
2 | HG02735.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.317-624G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067001 | |||||||
| chr21:43067108 | C | T | 4 | a0001c0001t0003g0028 a0001c0001t0003g0085 a0001c0001t0003g0094 others(1): Show |
5 | HG02145.hp1 HG02615.hp2 HG02723.hp2 others(2): Show |
intron_variant | MODIFIER | c.317-731G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067108 | |||||||
| chr21:43067165 | G | A | 2 | a0001c0001t0001g0080 a0001c0001t0003g0081 |
2 | HG03927.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.317-788C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067165 | |||||||
| chr21:43067180 | C | G | 17 | a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(14): Show |
25 | HG01167.hp1 HG01243.hp1 HG01257.hp1 others(22): Show |
intron_variant | MODIFIER | c.317-803G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067180 | |||||||
| chr21:43067294 | T | C | 133 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0168 others(130): Show |
209 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(206): Show |
intron_variant | MODIFIER | c.317-917A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067294 | |||||||
| chr21:43067318 | T | G | 1 | a0001c0002t0001g0069 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.317-941A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067318 | |||||||
| chr21:43067343 | A | G | 168 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0004 others(165): Show |
262 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(259): Show |
intron_variant | MODIFIER | c.317-966T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067343 | |||||||
| chr21:43067344 | C | T | 43 | a0001c0001t0002g0168 a0001c0002t0001g0001 a0001c0002t0001g0005 others(40): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.317-967G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067344 | |||||||
| chr21:43067411 | G | A | 1 | a0001c0001t0003g0081 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.317-1034C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067411 | |||||||
| chr21:43067491 | C | T | 14 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(11): Show |
17 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(14): Show |
intron_variant | MODIFIER | c.316+1018G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067491 | |||||||
| chr21:43067693 | T | C | 1 | a0001c0002t0001g0070 | 1 | NA18992.hp1 | intron_variant | MODIFIER | c.316+816A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067693 | |||||||
| chr21:43067762 | C | T | 1 | a0001c0004t0001g0115 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.316+747G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067762 | |||||||
| chr21:43067781 | G | A | 26 | a0001c0001t0008g0034 a0001c0002t0001g0045 a0001c0004t0002g0111 others(23): Show |
36 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(33): Show |
intron_variant | MODIFIER | c.316+728C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067781 | |||||||
| chr21:43067923 | T | C | 134 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0168 others(131): Show |
210 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(207): Show |
intron_variant | MODIFIER | c.316+586A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067923 | |||||||
| chr21:43067939 | C | G | 1 | a0001c0001t0002g0125 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.316+570G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43067939 | |||||||
| chr21:43068013 | C | T | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.316+496G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43068013 | |||||||
| chr21:43068035 | A | C | 2 | a0001c0001t0002g0041 a0001c0001t0002g0150 |
2 | HG02055.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.316+474T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43068035 | |||||||
| chr21:43068085 | C | T | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.316+424G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43068085 | |||||||
| chr21:43068122 | G | T | 1 | a0001c0008t0001g0073 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.316+387C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43068122 | |||||||
| chr21:43068285 | G | T | 2 | a0001c0002t0001g0045 a0001c0004t0002g0111 |
2 | HG02735.hp2 NA19003.hp1 |
intron_variant | MODIFIER | c.316+224C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43068285 | |||||||
| chr21:43068379 | C | T | 4 | a0002c0003t0006g0016 a0002c0003t0006g0136 a0002c0003t0006g0158 others(1): Show |
6 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.316+130G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 4/16 | chr21 | 43068379 | |||||||
| chr21:43068645 | G | GA | 76 | a0001c0001t0001g0048 a0001c0001t0002g0168 a0001c0001t0003g0084 others(73): Show |
137 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.210-31dupT | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43068645 | |||||||
| chr21:43068645 | G | GAA | 41 | a0001c0001t0001g0080 a0001c0001t0003g0003 a0001c0001t0003g0028 others(38): Show |
54 | HG00438.hp2 HG01081.hp2 HG01884.hp1 others(51): Show |
intron_variant | MODIFIER | c.210-32_210-31dupTT | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43068645 | |||||||
| chr21:43068713 | G | GA | 2 | a0001c0001t0002g0007 a0001c0001t0008g0034 |
6 | HG00423.hp1 HG01928.hp2 HG02148.hp2 others(3): Show |
intron_variant | MODIFIER | c.210-99dupT | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43068713 | |||||||
| chr21:43068713 | GA | G | 38 | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 others(35): Show |
48 | HG00438.hp2 HG00639.hp1 HG00639.hp2 others(45): Show |
intron_variant | MODIFIER | c.210-99delT | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43068713 | |||||||
| chr21:43068713 | GAA | G | 105 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0122 others(102): Show |
170 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(167): Show |
intron_variant | MODIFIER | c.210-100_210-99delT others(1): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43068713 | |||||||
| chr21:43068713 | GAAA | G | 18 | a0001c0002t0001g0061 a0001c0002t0001g0141 a0002c0003t0003g0118 others(15): Show |
26 | HG01167.hp1 HG01243.hp1 HG01257.hp1 others(23): Show |
intron_variant | MODIFIER | c.210-101_210-99delT others(2): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43068713 | |||||||
| chr21:43069003 | T | C | 43 | a0001c0001t0002g0168 a0001c0002t0001g0001 a0001c0002t0001g0005 others(40): Show |
91 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(88): Show |
intron_variant | MODIFIER | c.210-388A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069003 | |||||||
| chr21:43069102 | T | C | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.210-487A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069102 | |||||||
| chr21:43069299 | G | A | 1 | a0001c0001t0003g0154 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.210-684C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069299 | |||||||
| chr21:43069352 | C | G | 1 | a0002c0003t0006g0159 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.210-737G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069352 | |||||||
| chr21:43069370 | A | C | 1 | a0002c0003t0004g0010 | 3 | HG01167.hp1 HG03195.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.210-755T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069370 | |||||||
| chr21:43069395 | T | A | 1 | a0002c0003t0003g0118 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.210-780A>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069395 | |||||||
| chr21:43069414 | C | T | 3 | a0001c0002t0001g0006 a0001c0002t0001g0059 a0001c0002t0001g0060 |
8 | HG00280.hp1 HG00738.hp1 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.210-799G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069414 | |||||||
| chr21:43069520 | C | T | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.210-905G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069520 | |||||||
| chr21:43069554 | G | A | 23 | a0002c0003t0003g0118 a0002c0003t0004g0010 a0002c0003t0004g0011 others(20): Show |
32 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(29): Show |
intron_variant | MODIFIER | c.210-939C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069554 | |||||||
| chr21:43069657 | T | C | 10 | a0001c0001t0001g0048 a0001c0004t0001g0019 a0001c0004t0001g0021 others(7): Show |
12 | HG01070.hp1 HG01071.hp1 HG01074.hp1 others(9): Show |
intron_variant | MODIFIER | c.210-1042A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069657 | |||||||
| chr21:43069709 | C | T | 1 | a0003c0005t0007g0121 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.210-1094G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069709 | |||||||
| chr21:43069753 | G | A | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.210-1138C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069753 | |||||||
| chr21:43069806 | G | A | 1 | a0002c0003t0001g0109 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.210-1191C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069806 | |||||||
| chr21:43069867 | G | T | 51 | a0001c0001t0002g0168 a0001c0001t0008g0034 a0001c0002t0001g0001 others(48): Show |
102 | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(99): Show |
intron_variant | MODIFIER | c.210-1252C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069867 | |||||||
| chr21:43069923 | C | T | 2 | a0001c0006t0010g0082 a0001c0006t0010g0172 |
2 | HG02809.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.210-1308G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069923 | |||||||
| chr21:43069964 | G | A | 44 | a0001c0001t0002g0168 a0001c0001t0008g0034 a0001c0002t0001g0001 others(41): Show |
93 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(90): Show |
intron_variant | MODIFIER | c.210-1349C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069964 | |||||||
| chr21:43069982 | T | C | 24 | a0001c0001t0009g0155 a0002c0003t0003g0118 a0002c0003t0004g0010 others(21): Show |
33 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(30): Show |
intron_variant | MODIFIER | c.210-1367A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43069982 | |||||||
| chr21:43070020 | C | T | 1 | a0001c0002t0001g0054 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.210-1405G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070020 | |||||||
| chr21:43070104 | G | T | 65 | a0001c0001t0002g0008 a0001c0001t0002g0012 a0001c0001t0002g0013 others(62): Show |
85 | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(82): Show |
intron_variant | MODIFIER | c.210-1489C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070104 | |||||||
| chr21:43070118 | A | C | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.210-1503T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070118 | |||||||
| chr21:43070179 | C | T | 5 | a0001c0001t0002g0012 a0001c0001t0002g0129 a0001c0001t0002g0130 others(2): Show |
7 | HG00639.hp2 HG00738.hp2 HG01928.hp1 others(4): Show |
intron_variant | MODIFIER | c.210-1564G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070179 | |||||||
| chr21:43070203 | G | C | 1 | a0002c0003t0001g0173 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.210-1588C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070203 | |||||||
| chr21:43070231 | G | A | 2 | a0001c0001t0002g0149 a0010c0011t0002g0142 |
2 | NA18977.hp1 NA19063.hp2 |
intron_variant | MODIFIER | c.210-1616C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070231 | |||||||
| chr21:43070271 | G | A | 1 | a0002c0003t0004g0116 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.210-1656C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070271 | |||||||
| chr21:43070411 | G | A | 1 | a0001c0001t0003g0098 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.209+1574C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070411 | |||||||
| chr21:43070419 | C | T | 2 | a0001c0001t0001g0080 a0001c0001t0003g0081 |
2 | HG03927.hp2 HG04204.hp1 |
intron_variant | MODIFIER | c.209+1566G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070419 | |||||||
| chr21:43070486 | C | G | 6 | a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0099 others(3): Show |
7 | HG00438.hp2 HG02027.hp2 HG02056.hp2 others(4): Show |
intron_variant | MODIFIER | c.209+1499G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070486 | |||||||
| chr21:43070554 | C | T | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.209+1431G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070554 | |||||||
| chr21:43070736 | C | G | 1 | a0001c0001t0002g0134 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.209+1249G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070736 | |||||||
| chr21:43070786 | C | T | 1 | a0001c0004t0001g0019 | 2 | HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.209+1199G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070786 | |||||||
| chr21:43070793 | G | C | 4 | a0002c0003t0003g0118 a0002c0003t0004g0017 a0002c0003t0004g0033 others(1): Show |
7 | HG02559.hp1 HG02630.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.209+1192C>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070793 | |||||||
| chr21:43070924 | C | CA | 91 | a0001c0001t0001g0048 a0001c0001t0002g0004 a0001c0001t0002g0008 others(88): Show |
162 | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(159): Show |
intron_variant | MODIFIER | c.209+1060dupT | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070924 | |||||||
| chr21:43070924 | C | CAA | 19 | a0001c0001t0002g0036 a0001c0001t0002g0143 a0001c0001t0002g0144 others(16): Show |
28 | HG00423.hp2 HG00438.hp1 HG01081.hp1 others(25): Show |
intron_variant | MODIFIER | c.209+1059_209+1060d others(4): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070924 | |||||||
| chr21:43070924 | C | CAAAA | 6 | a0001c0001t0002g0041 a0001c0001t0002g0161 a0001c0001t0002g0170 others(3): Show |
6 | HG02886.hp1 HG02896.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.209+1057_209+1060d others(6): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070924 | |||||||
| chr21:43070986 | T | G | 44 | a0001c0001t0001g0080 a0001c0001t0002g0096 a0001c0001t0002g0150 others(41): Show |
56 | HG00438.hp2 HG01081.hp2 HG01167.hp2 others(53): Show |
intron_variant | MODIFIER | c.209+999A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070986 | |||||||
| chr21:43070999 | T | G | 7 | a0001c0001t0002g0041 a0001c0001t0002g0160 a0001c0001t0002g0161 others(4): Show |
7 | HG02145.hp2 HG02886.hp1 HG03209.hp1 others(4): Show |
intron_variant | MODIFIER | c.209+986A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43070999 | |||||||
| chr21:43071172 | C | T | 1 | a0001c0001t0001g0048 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.209+813G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43071172 | |||||||
| chr21:43071260 | C | T | 1 | a0001c0001t0002g0175 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.209+725G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43071260 | |||||||
| chr21:43071315 | C | T | 27 | a0001c0001t0005g0038 a0001c0002t0001g0120 a0001c0004t0001g0115 others(24): Show |
37 | HG00099.hp2 HG00280.hp2 HG01081.hp1 others(34): Show |
intron_variant | MODIFIER | c.209+670G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43071315 | |||||||
| chr21:43071749 | C | T | 1 | a0002c0003t0001g0109 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.209+236G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43071749 | |||||||
| chr21:43071882 | G | A | 1 | a0001c0004t0001g0050 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.209+103C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43071882 | |||||||
| chr21:43071892 | C | T | 1 | a0002c0003t0004g0108 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.209+93G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 3/16 | chr21 | 43071892 | |||||||
| chr21:43072237 | C | T | 4 | a0001c0001t0002g0041 a0001c0001t0002g0160 a0001c0001t0002g0161 others(1): Show |
4 | HG02145.hp2 HG02896.hp2 HG03209.hp1 others(1): Show |
intron_variant | MODIFIER | c.-8-36G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072237 | |||||||
| chr21:43072352 | G | T | 1 | a0001c0002t0001g0178 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.-8-151C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072352 | |||||||
| chr21:43072360 | G | A | 3 | a0002c0003t0006g0016 a0002c0003t0006g0158 a0002c0003t0006g0159 |
5 | HG01109.hp1 HG02896.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-8-159C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072360 | |||||||
| chr21:43072459 | C | T | 9 | a0001c0001t0002g0041 a0001c0001t0002g0160 a0001c0001t0002g0161 others(6): Show |
10 | HG01257.hp1 HG01258.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.-8-258G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072459 | |||||||
| chr21:43072493 | C | G | 96 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0041 others(93): Show |
156 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(153): Show |
intron_variant | MODIFIER | c.-8-292G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072493 | |||||||
| chr21:43072624 | G | A | 1 | a0001c0004t0001g0019 | 2 | HG02280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-8-423C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072624 | |||||||
| chr21:43072635 | C | T | 1 | a0001c0004t0001g0047 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.-8-434G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072635 | |||||||
| chr21:43072636 | G | A | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-8-435C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072636 | |||||||
| chr21:43072710 | C | T | 3 | a0002c0003t0004g0105 a0002c0003t0004g0106 a0002c0003t0004g0107 |
3 | HG03041.hp2 HG03209.hp2 HG03540.hp1 |
intron_variant | MODIFIER | c.-8-509G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072710 | |||||||
| chr21:43072728 | C | A | 91 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0040 others(88): Show |
151 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.-8-527G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072728 | |||||||
| chr21:43072733 | A | C | 91 | a0001c0001t0001g0048 a0001c0001t0001g0080 a0001c0001t0002g0040 others(88): Show |
151 | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.-8-532T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072733 | |||||||
| chr21:43072905 | G | T | 9 | a0001c0001t0002g0041 a0001c0001t0002g0160 a0001c0001t0002g0161 others(6): Show |
10 | HG01257.hp1 HG01258.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.-9+361C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43072905 | |||||||
| chr21:43073091 | A | G | 8 | a0001c0001t0002g0041 a0001c0001t0002g0160 a0001c0001t0002g0161 others(5): Show |
9 | HG01257.hp1 HG01258.hp2 HG02145.hp2 others(6): Show |
intron_variant | MODIFIER | c.-9+175T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43073091 | |||||||
| chr21:43073112 | C | T | 1 | a0003c0005t0007g0020 | 2 | NA18906.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.-9+154G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43073112 | |||||||
| chr21:43073121 | T | C | 2 | a0002c0003t0001g0173 a0002c0010t0001g0042 |
2 | HG02896.hp2 HG03516.hp2 |
intron_variant | MODIFIER | c.-9+145A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43073121 | |||||||
| chr21:43073122 | G | T | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-9+144C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43073122 | |||||||
| chr21:43073203 | C | T | 2 | a0001c0001t0002g0041 a0001c0004t0001g0019 |
3 | HG02280.hp1 HG03139.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-9+63G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2/16 | chr21 | 43073203 | |||||||
| chr21:43073393 | G | A | 7 | a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0002t0001g0165 others(4): Show |
8 | HG01257.hp1 HG01258.hp2 HG02145.hp2 others(5): Show |
intron_variant | MODIFIER | c.-84-52C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073393 | |||||||
| chr21:43073449 | T | G | 1 | a0001c0001t0003g0166 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.-84-108A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073449 | |||||||
| chr21:43073499 | T | C | 1 | a0001c0001t0005g0167 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.-84-158A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073499 | |||||||
| chr21:43073537 | C | G | 1 | a0001c0001t0003g0046 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.-84-196G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073537 | |||||||
| chr21:43073554 | A | C | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-84-213T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073554 | |||||||
| chr21:43073555 | C | A | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-84-214G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073555 | |||||||
| chr21:43073556 | A | T | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-84-215T>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073556 | |||||||
| chr21:43073557 | T | C | 1 | a0001c0001t0002g0041 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-84-216A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073557 | |||||||
| chr21:43073569 | G | A | 1 | a0001c0001t0002g0168 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.-84-228C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073569 | |||||||
| chr21:43073681 | T | C | 1 | a0001c0001t0003g0169 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.-84-340A>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073681 | |||||||
| chr21:43073882 | A | C | 1 | a0001c0006t0011g0171 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.-84-541T>G | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073882 | |||||||
| chr21:43073995 | G | A | 1 | a0001c0001t0002g0170 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-84-654C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073995 | |||||||
| chr21:43073997 | G | GTAGC | 9 | a0001c0001t0002g0041 a0001c0001t0005g0038 a0001c0006t0010g0172 others(6): Show |
12 | HG01884.hp1 HG02258.hp2 HG02280.hp2 others(9): Show |
intron_variant | MODIFIER | c.-84-657_-84-656ins others(4): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43073997 | |||||||
| chr21:43074102 | G | T | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-84-761C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074102 | |||||||
| chr21:43074116 | T | G | 1 | a0001c0001t0002g0041 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-84-775A>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074116 | |||||||
| chr21:43074173 | CT | C | 7 | a0001c0001t0002g0175 a0001c0001t0003g0174 a0001c0001t0005g0038 others(4): Show |
10 | HG01255.hp1 HG01884.hp1 HG02155.hp1 others(7): Show |
intron_variant | MODIFIER | c.-84-833delA | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074173 | |||||||
| chr21:43074182 | T | A | 3 | a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 |
3 | HG00609.hp1 HG02132.hp1 HG02155.hp2 |
intron_variant | MODIFIER | c.-84-841A>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074182 | |||||||
| chr21:43074182 | TA | T | 3 | a0001c0001t0003g0039 a0001c0001t0005g0044 a0001c0002t0001g0045 |
3 | NA19003.hp1 NA19090.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.-84-842delT | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074182 | |||||||
| chr21:43074234 | C | T | 1 | a0001c0002t0001g0043 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.-84-893G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074234 | |||||||
| chr21:43074409 | G | A | 1 | a0001c0002t0001g0018 | 3 | NA18971.hp1 NA18997.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.-84-1068C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074409 | |||||||
| chr21:43074813 | G | T | 1 | a0002c0010t0001g0042 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-85+957C>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074813 | |||||||
| chr21:43074882 | G | A | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-85+888C>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074882 | |||||||
| chr21:43074884 | A | G | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-85+886T>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074884 | |||||||
| chr21:43074926 | C | T | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-85+844G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43074926 | |||||||
| chr21:43075200 | T | A | 1 | a0001c0001t0002g0181 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-85+570A>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43075200 | |||||||
| chr21:43075282 | C | T | 1 | a0001c0001t0002g0041 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.-85+488G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43075282 | |||||||
| chr21:43075469 | C | T | 1 | a0001c0001t0002g0040 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.-85+301G>A | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43075469 | |||||||
| chr21:43075655 | C | A | 2 | a0001c0002t0001g0182 a0001c0002t0001g0183 |
2 | HG01074.hp2 HG01361.hp1 |
intron_variant | MODIFIER | c.-85+115G>T | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43075655 | |||||||
| chr21:43075691 | GCGCGGAG others(8): Show |
G | 1 | a0001c0001t0003g0039 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.-85+64_-85+78delGT others(13): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43075691 | |||||||
| chr21:43075692 | C | G | 6 | a0001c0001t0002g0052 a0001c0002t0001g0001 a0001c0002t0001g0043 others(3): Show |
6 | HG00673.hp1 HG01934.hp2 HG02071.hp1 others(3): Show |
intron_variant | MODIFIER | c.-85+78G>C | CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 1/16 | chr21 | 43075692 |