Item | Value |
---|---|
geneid | 1292 |
ensemblid | ENSG00000142173.17 |
hgncid | 2212 |
symbol | COL6A2 |
name | collagen type VI alpha 2 chain |
refseq_nuc | NM_001849.4 |
refseq_prot | NP_001840.3 |
ensembl_nuc | ENST00000300527.9 |
ensembl_prot | ENSP00000300527.4 |
mane_status | MANE Select |
chr | chr21 |
start | 46098112 |
end | 46132848 |
strand | + |
ver | v1.2 |
region | chr21:46098112-46132848 |
region5000 | chr21:46093112-46137848 |
regionname0 | COL6A2_chr21_46098112_46132848 |
regionname5000 | COL6A2_chr21_46093112_46137848 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/1 | 36 | 249 | 40 | 52 | 120 | 11 | 25 | 94 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(31): Show |
chr21 | 46093112 | 46137848 |
a0002 | 1/0 | 1019 | 55 | 19 | 4 | 13 | 3 | 15 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0003 | 0/0 | 1019 | 24 | 9 | 3 | 10 | 0 | 2 | 7 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0004 | 0/0 | 1019 | 17 | 9 | 3 | 3 | 1 | 1 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0005 | 0/0 | 1019 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0006 | 0/0 | 1019 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0007 | 0/0 | 1019 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0008 | 0/0 | 1019 | 2 | 0 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0009 | 0/0 | 1019 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0010 | 0/0 | 1019 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0011 | 0/0 | 1019 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0012 | 0/0 | 1019 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0013 | 0/0 | 1019 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
a0014 | 0/0 | 1019 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | MLQGT others(1014): Show |
chr21 | 46093112 | 46137848 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/1 | 3052 | 77 | 4 | 20 | 38 | 2 | 12 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0002 | 0/0 | 3052 | 74 | 7 | 6 | 56 | 0 | 5 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0004 | 0/0 | 3052 | 21 | 4 | 9 | 0 | 4 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0006 | 0/0 | 3052 | 12 | 0 | 0 | 12 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0007 | 0/0 | 3052 | 10 | 9 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0009 | 0/0 | 3052 | 7 | 0 | 4 | 0 | 3 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0011 | 0/0 | 3052 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0014 | 0/0 | 3052 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0015 | 0/0 | 3052 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0018 | 0/0 | 3052 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0019 | 0/0 | 3052 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0020 | 0/0 | 3052 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0021 | 0/0 | 3052 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0022 | 0/0 | 3052 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0023 | 0/0 | 3052 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0024 | 0/0 | 3052 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0025 | 0/0 | 3052 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0026 | 0/0 | 3052 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0033 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0034 | 0/0 | 3052 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0035 | 0/0 | 3052 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0036 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0037 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0038 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0039 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0040 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0041 | 0/0 | 3052 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0042 | 0/0 | 3052 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0043 | 0/0 | 3052 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0044 | 0/0 | 3052 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0045 | 0/0 | 3052 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0046 | 0/0 | 3052 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0047 | 0/0 | 3052 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0048 | 0/0 | 3052 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0049 | 0/0 | 3052 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0001c0050 | 0/0 | 3052 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3047): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0003 | 1/0 | 3057 | 39 | 6 | 4 | 12 | 3 | 13 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0012 | 0/0 | 3057 | 5 | 5 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0013 | 0/0 | 3057 | 4 | 2 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0029 | 0/0 | 3057 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0031 | 0/0 | 3057 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0055 | 0/0 | 3057 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0061 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0002c0062 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0008 | 0/0 | 3057 | 9 | 0 | 1 | 6 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0010 | 0/0 | 3057 | 7 | 5 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0016 | 0/0 | 3057 | 3 | 1 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0032 | 0/0 | 3057 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0054 | 0/0 | 3057 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0063 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0003c0064 | 0/0 | 3057 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0004c0005 | 0/0 | 3057 | 17 | 9 | 3 | 3 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0005c0017 | 0/0 | 3057 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0005c0065 | 0/0 | 3057 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0006c0028 | 0/0 | 3057 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0006c0056 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0007c0030 | 0/0 | 3057 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0007c0060 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0008c0027 | 0/0 | 3057 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0009c0058 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0009c0059 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0010c0057 | 0/0 | 3057 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0011c0066 | 0/0 | 3057 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0012c0051 | 0/0 | 3057 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0013c0052 | 0/0 | 3057 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 | ||
a0014c0053 | 0/0 | 3057 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | ATGCT others(3052): Show |
chr21 | 46093112 | 46137848 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 3440 | 74 | 4 | 19 | 38 | 2 | 11 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0001t0006 | 0/1 | 3440 | 2 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0001t0011 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0001 | 0/0 | 3440 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0002 | 0/0 | 3440 | 66 | 6 | 6 | 52 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0008 | 0/0 | 3440 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0009 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0012 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0013 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0002t0014 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0004t0001 | 0/0 | 3440 | 21 | 4 | 9 | 0 | 4 | 4 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0006t0001 | 0/0 | 3440 | 11 | 0 | 0 | 11 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0006t0010 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0007t0001 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0007t0003 | 0/0 | 3440 | 5 | 5 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0007t0005 | 0/0 | 3440 | 4 | 4 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0009t0001 | 0/0 | 3440 | 7 | 0 | 4 | 0 | 3 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0011t0001 | 0/0 | 3440 | 6 | 4 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0014t0001 | 0/0 | 3440 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0015t0002 | 0/0 | 3440 | 3 | 2 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0018t0001 | 0/0 | 3440 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0019t0001 | 0/0 | 3440 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0020t0001 | 0/0 | 3440 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0021t0006 | 0/0 | 3440 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0022t0001 | 0/0 | 3440 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0023t0001 | 0/0 | 3440 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0024t0002 | 0/0 | 3440 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0025t0001 | 0/0 | 3440 | 2 | 1 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0026t0005 | 0/0 | 3440 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0033t0002 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0034t0001 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0035t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0036t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0037t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0038t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0039t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0040t0001 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0041t0001 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0042t0002 | 0/0 | 3440 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0043t0002 | 0/0 | 3440 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0044t0003 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0045t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0046t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0047t0001 | 0/0 | 3440 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0048t0001 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0049t0001 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0001c0050t0002 | 0/0 | 3440 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3435): Show |
chr21 | 46093112 | 46137848 |
a0002c0003t0001 | 1/0 | 3445 | 38 | 6 | 4 | 11 | 3 | 13 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0003t0015 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0012t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0012t0007 | 0/0 | 3445 | 3 | 3 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0013t0001 | 0/0 | 3445 | 2 | 0 | 0 | 1 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0013t0003 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0029t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0031t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0055t0001 | 0/0 | 3445 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0061t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0002c0062t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0008t0003 | 0/0 | 3445 | 9 | 0 | 1 | 6 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0010t0001 | 0/0 | 3445 | 6 | 5 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0010t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0016t0001 | 0/0 | 3445 | 2 | 1 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0016t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0032t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0054t0003 | 0/0 | 3445 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0063t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0003c0064t0001 | 0/0 | 3445 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0004c0005t0001 | 0/0 | 3445 | 4 | 0 | 1 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0004c0005t0004 | 0/0 | 3445 | 13 | 9 | 2 | 0 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0005c0017t0002 | 0/0 | 3445 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0005c0065t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0006c0028t0001 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0006c0056t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0007c0030t0002 | 0/0 | 3445 | 2 | 2 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0007c0060t0002 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0008c0027t0003 | 0/0 | 3445 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0009c0058t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0009c0059t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0010c0057t0001 | 0/0 | 3445 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0011c0066t0002 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0012c0051t0001 | 0/0 | 3445 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0013c0052t0001 | 0/0 | 3445 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
a0014c0053t0001 | 0/0 | 3445 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | CCCTG others(3440): Show |
chr21 | 46093112 | 46137848 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0003 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0006 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0011 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0012 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0044 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0056 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0123 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0136 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0137 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0138 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0139 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0145 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0146 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0147 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0151 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0156 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0171 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0172 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0174 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0178 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0180 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0181 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0184 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0213 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0236 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0006g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0006g0170 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0001t0011g0332 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0001g0320 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0001 | 0/0 | 6 | 0 | 0 | 6 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0004 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0005 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0017 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0018 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0021 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0124 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0266 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0270 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0273 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0276 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0277 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0281 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0285 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0287 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0288 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0289 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0291 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0295 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0299 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0306 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0321 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0002g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0008g0019 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0009g0328 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0012g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0013g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0002t0014g0326 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0008 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0009 | 0/0 | 2 | 0 | 0 | 0 | 1 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0038 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0103 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0105 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0110 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0113 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0119 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0129 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0132 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0155 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0161 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0167 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0185 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0247 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0004t0001g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0165 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0166 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0179 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0187 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0303 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0001g0305 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0006t0010g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0001g0301 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0245 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0246 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0003g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0007t0005g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0252 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0258 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0261 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0329 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0009t0001g0333 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0107 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0116 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0121 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0122 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0011t0001g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0014t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0014t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0014t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0015t0002g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0015t0002g0324 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0015t0002g0325 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0018t0001g0168 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0018t0001g0186 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0019t0001g0330 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0019t0001g0331 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0020t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0020t0001g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0021t0006g0144 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0021t0006g0175 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0022t0001g0235 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0022t0001g0253 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0023t0001g0249 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0023t0001g0250 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0024t0002g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0024t0002g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0025t0001g0231 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0025t0001g0234 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0026t0005g0232 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0026t0005g0233 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0033t0002g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0034t0001g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0035t0001g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0036t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0037t0001g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0038t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0039t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0040t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0041t0001g0128 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0042t0002g0294 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0043t0002g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0044t0003g0196 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0045t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0046t0001g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0047t0001g0244 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0048t0001g0143 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0049t0001g0157 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0001c0050t0002g0297 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0007 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0027 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0030 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0054 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0055 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0058 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0060 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0073 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0080 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0081 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0082 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0083 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0085 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0089 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0090 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0221 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0222 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0223 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0225 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0226 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0001g0265 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0003t0015g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0001g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0001g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0007g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0007g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0012t0007g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0001g0216 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0001g0218 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0003g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0013t0003g0070 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0029t0001g0066 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0029t0001g0092 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0031t0001g0217 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0031t0001g0219 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0055t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0061t0001g0067 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0002c0062t0001g0227 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0045 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0046 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0191 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0198 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0008t0003g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0195 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0208 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0001g0309 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0010t0002g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0016t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0016t0001g0230 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0016t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0032t0001g0239 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0032t0001g0240 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0054t0003g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0063t0001g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0003c0064t0001g0194 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0001g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0209 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0211 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0212 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0214 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0215 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0229 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0237 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0004c0005t0004g0238 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0017t0002g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0017t0002g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0017t0002g0311 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0005c0065t0002g0310 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0006c0028t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0006c0028t0001g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0006c0056t0001g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0007c0030t0002g0095 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0007c0030t0002g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0007c0060t0002g0071 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0008c0027t0003g0015 | 0/0 | 2 | 0 | 0 | 0 | 2 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0009c0058t0001g0093 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0009c0059t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0010c0057t0001g0220 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0011c0066t0002g0282 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0012c0051t0001g0224 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0013c0052t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
a0014c0053t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0002 | c0003 | t0001 | g0083 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00099 | hp2 | a0002 | c0003 | t0001 | g0075 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00140 | hp1 | a0001 | c0001 | t0001 | g0106 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00140 | hp2 | a0001 | c0009 | t0001 | g0261 | EUR | GBR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00280 | hp1 | a0001 | c0001 | t0001 | g0127 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00280 | hp2 | a0001 | c0004 | t0001 | g0129 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00323 | hp1 | a0001 | c0004 | t0001 | g0009 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00323 | hp2 | a0002 | c0003 | t0001 | g0082 | EUR | FIN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00423 | hp1 | a0001 | c0002 | t0002 | g0268 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00423 | hp2 | a0003 | c0008 | t0003 | g0200 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00438 | hp1 | a0002 | c0003 | t0001 | g0030 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00438 | hp2 | a0004 | c0005 | t0001 | g0100 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00544 | hp1 | a0002 | c0003 | t0001 | g0028 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00544 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00558 | hp1 | a0001 | c0001 | t0001 | g0012 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0174 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00597 | hp1 | a0003 | c0008 | t0003 | g0190 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00597 | hp2 | a0003 | c0016 | t0002 | g0026 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00609 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0158 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00621 | hp1 | a0002 | c0003 | t0001 | g0086 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00621 | hp2 | a0002 | c0003 | t0015 | g0088 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00639 | hp1 | a0004 | c0005 | t0001 | g0207 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00639 | hp2 | a0001 | c0007 | t0001 | g0301 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00673 | hp1 | a0001 | c0002 | t0002 | g0307 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00673 | hp2 | a0005 | c0017 | t0002 | g0256 | EAS | CHS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00733 | hp1 | a0002 | c0003 | t0001 | g0007 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00733 | hp2 | a0001 | c0001 | t0001 | g0145 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00735 | hp1 | a0001 | c0002 | t0002 | g0290 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00735 | hp2 | a0001 | c0009 | t0001 | g0022 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00738 | hp1 | a0001 | c0009 | t0001 | g0252 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00738 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00741 | hp1 | a0001 | c0002 | t0002 | g0124 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG00741 | hp2 | a0001 | c0004 | t0001 | g0119 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01069 | hp1 | a0001 | c0021 | t0006 | g0175 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01069 | hp2 | a0001 | c0001 | t0001 | g0013 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01070 | hp1 | a0001 | c0001 | t0001 | g0011 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01070 | hp2 | a0001 | c0004 | t0001 | g0042 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01071 | hp1 | a0001 | c0004 | t0001 | g0154 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01071 | hp2 | a0001 | c0021 | t0006 | g0144 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01074 | hp1 | a0004 | c0005 | t0004 | g0211 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01074 | hp2 | a0001 | c0002 | t0002 | g0291 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0039 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01099 | hp2 | a0001 | c0009 | t0001 | g0258 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01106 | hp1 | a0001 | c0009 | t0001 | g0022 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01106 | hp2 | a0001 | c0001 | t0001 | g0044 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01109 | hp1 | a0004 | c0005 | t0004 | g0193 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01109 | hp2 | a0002 | c0003 | t0001 | g0007 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01168 | hp1 | a0001 | c0002 | t0002 | g0273 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01168 | hp2 | a0001 | c0004 | t0001 | g0161 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01169 | hp1 | a0001 | c0002 | t0002 | g0266 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01169 | hp2 | a0001 | c0001 | t0001 | g0181 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0146 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01175 | hp2 | a0001 | c0001 | t0011 | g0332 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01243 | hp1 | a0003 | c0054 | t0003 | g0197 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01243 | hp2 | a0001 | c0022 | t0001 | g0253 | AMR | PUR | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01255 | hp1 | a0001 | c0004 | t0001 | g0167 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01255 | hp2 | a0002 | c0003 | t0001 | g0090 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01256 | hp1 | a0001 | c0001 | t0001 | g0135 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01256 | hp2 | a0001 | c0004 | t0001 | g0008 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01257 | hp1 | a0001 | c0011 | t0001 | g0116 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01257 | hp2 | a0003 | c0064 | t0001 | g0194 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01258 | hp1 | a0001 | c0004 | t0001 | g0113 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01258 | hp2 | a0001 | c0011 | t0001 | g0107 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01261 | hp1 | a0001 | c0001 | t0001 | g0013 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01261 | hp2 | a0001 | c0025 | t0001 | g0234 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01346 | hp1 | a0001 | c0019 | t0001 | g0331 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01346 | hp2 | a0001 | c0004 | t0001 | g0260 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01433 | hp1 | a0002 | c0003 | t0001 | g0223 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01433 | hp2 | a0001 | c0001 | t0001 | g0035 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01496 | hp1 | a0001 | c0041 | t0001 | g0128 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01496 | hp2 | a0001 | c0001 | t0001 | g0003 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01515 | hp1 | a0001 | c0009 | t0001 | g0329 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01515 | hp2 | a0001 | c0004 | t0001 | g0155 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01516 | hp1 | a0008 | c0027 | t0003 | g0015 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01516 | hp2 | a0001 | c0048 | t0001 | g0143 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01517 | hp1 | a0001 | c0009 | t0001 | g0333 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01517 | hp2 | a0008 | c0027 | t0003 | g0015 | EUR | IBS | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01884 | hp1 | a0004 | c0005 | t0004 | g0237 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01884 | hp2 | a0001 | c0015 | t0002 | g0325 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01891 | hp1 | a0001 | c0026 | t0005 | g0233 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01891 | hp2 | a0001 | c0011 | t0001 | g0112 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01928 | hp1 | a0001 | c0034 | t0001 | g0177 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0012 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01952 | hp1 | a0001 | c0001 | t0001 | g0003 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01952 | hp2 | a0001 | c0002 | t0002 | g0321 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01975 | hp1 | a0001 | c0001 | t0001 | g0139 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01975 | hp2 | a0001 | c0042 | t0002 | g0294 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01978 | hp1 | a0001 | c0015 | t0002 | g0259 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01978 | hp2 | a0001 | c0001 | t0001 | g0131 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01981 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01981 | hp2 | a0003 | c0008 | t0003 | g0191 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02015 | hp1 | a0001 | c0001 | t0001 | g0141 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02015 | hp2 | a0001 | c0002 | t0014 | g0326 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02040 | hp1 | a0002 | c0003 | t0001 | g0076 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02040 | hp2 | a0001 | c0002 | t0002 | g0016 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02055 | hp1 | a0001 | c0001 | t0001 | g0037 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02055 | hp2 | a0002 | c0031 | t0001 | g0217 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02056 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02056 | hp2 | a0001 | c0036 | t0001 | g0036 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02071 | hp1 | a0001 | c0002 | t0002 | g0298 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02071 | hp2 | a0002 | c0003 | t0001 | g0031 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02074 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02074 | hp2 | a0001 | c0002 | t0002 | g0254 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02080 | hp1 | a0001 | c0002 | t0002 | g0274 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0183 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02083 | hp1 | a0001 | c0006 | t0010 | g0163 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02083 | hp2 | a0002 | c0013 | t0001 | g0218 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02132 | hp1 | a0001 | c0002 | t0002 | g0296 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02132 | hp2 | a0002 | c0003 | t0001 | g0084 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02135 | hp1 | a0002 | c0003 | t0001 | g0091 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02135 | hp2 | a0001 | c0001 | t0001 | g0041 | EAS | KHV | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02145 | hp1 | a0002 | c0012 | t0001 | g0025 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02145 | hp2 | a0003 | c0010 | t0001 | g0188 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02165 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | CDX | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | CDX | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02257 | hp1 | a0002 | c0012 | t0007 | g0032 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02257 | hp2 | a0002 | c0013 | t0003 | g0068 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02258 | hp1 | a0004 | c0005 | t0004 | g0238 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02258 | hp2 | a0001 | c0015 | t0002 | g0324 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02273 | hp1 | a0001 | c0001 | t0001 | g0151 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0147 | AMR | PEL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02280 | hp1 | a0001 | c0022 | t0001 | g0235 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02280 | hp2 | a0002 | c0012 | t0001 | g0033 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02451 | hp1 | a0004 | c0005 | t0004 | g0204 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02451 | hp2 | a0002 | c0029 | t0001 | g0092 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02602 | hp1 | a0001 | c0004 | t0001 | g0185 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02602 | hp2 | a0004 | c0005 | t0004 | g0048 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02615 | hp1 | a0003 | c0010 | t0001 | g0189 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02615 | hp2 | a0001 | c0007 | t0005 | g0065 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02622 | hp1 | a0001 | c0001 | t0001 | g0123 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02622 | hp2 | a0002 | c0012 | t0007 | g0074 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02630 | hp1 | a0001 | c0023 | t0001 | g0249 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02630 | hp2 | a0001 | c0004 | t0001 | g0103 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02647 | hp1 | a0001 | c0001 | t0001 | g0236 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02647 | hp2 | a0006 | c0056 | t0001 | g0099 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0134 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02683 | hp2 | a0001 | c0001 | t0006 | g0133 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02698 | hp1 | a0002 | c0003 | t0001 | g0089 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02698 | hp2 | a0001 | c0049 | t0001 | g0157 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02717 | hp1 | a0007 | c0030 | t0002 | g0096 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02717 | hp2 | a0003 | c0010 | t0001 | g0195 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02723 | hp1 | a0001 | c0002 | t0002 | g0285 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02723 | hp2 | a0003 | c0010 | t0001 | g0206 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02809 | hp1 | a0002 | c0062 | t0001 | g0227 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02809 | hp2 | a0001 | c0004 | t0001 | g0247 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02818 | hp1 | a0003 | c0032 | t0001 | g0239 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02818 | hp2 | a0002 | c0003 | t0001 | g0225 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02886 | hp1 | a0004 | c0005 | t0004 | g0202 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02886 | hp2 | a0001 | c0007 | t0003 | g0263 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02897 | hp1 | a0001 | c0007 | t0003 | g0262 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02897 | hp2 | a0001 | c0007 | t0003 | g0245 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02922 | hp1 | a0007 | c0060 | t0002 | g0071 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02922 | hp2 | a0001 | c0002 | t0002 | g0276 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02965 | hp1 | a0001 | c0035 | t0001 | g0053 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02965 | hp2 | a0002 | c0013 | t0003 | g0070 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02970 | hp1 | a0002 | c0031 | t0001 | g0219 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02970 | hp2 | a0001 | c0011 | t0001 | g0176 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02976 | hp1 | a0001 | c0047 | t0001 | g0244 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02976 | hp2 | a0002 | c0003 | t0001 | g0221 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03017 | hp1 | a0002 | c0003 | t0001 | g0060 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03017 | hp2 | a0001 | c0004 | t0001 | g0009 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03098 | hp1 | a0001 | c0007 | t0005 | g0059 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03098 | hp2 | a0002 | c0003 | t0001 | g0222 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03139 | hp1 | a0001 | c0002 | t0002 | g0308 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03139 | hp2 | a0001 | c0002 | t0002 | g0277 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03195 | hp1 | a0002 | c0003 | t0001 | g0226 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03195 | hp2 | a0004 | c0005 | t0004 | g0229 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03209 | hp1 | a0001 | c0045 | t0001 | g0052 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03209 | hp2 | a0001 | c0011 | t0001 | g0122 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03225 | hp1 | a0001 | c0011 | t0001 | g0121 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03225 | hp2 | a0004 | c0005 | t0004 | g0215 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03239 | hp1 | a0002 | c0003 | t0001 | g0085 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03239 | hp2 | a0003 | c0008 | t0003 | g0046 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03453 | hp1 | a0001 | c0026 | t0005 | g0232 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03453 | hp2 | a0003 | c0032 | t0001 | g0240 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03486 | hp1 | a0001 | c0002 | t0002 | g0316 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03486 | hp2 | a0004 | c0005 | t0004 | g0205 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03490 | hp1 | a0002 | c0003 | t0001 | g0080 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03490 | hp2 | a0001 | c0018 | t0001 | g0186 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03491 | hp1 | a0001 | c0002 | t0008 | g0019 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03491 | hp2 | a0002 | c0003 | t0001 | g0061 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03492 | hp1 | a0001 | c0018 | t0001 | g0168 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03492 | hp2 | a0001 | c0002 | t0008 | g0019 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03516 | hp1 | a0003 | c0063 | t0001 | g0047 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0108 | AFR | ESN | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03540 | hp1 | a0001 | c0002 | t0009 | g0328 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03540 | hp2 | a0006 | c0028 | t0001 | g0098 | AFR | GWD | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03579 | hp1 | a0001 | c0007 | t0003 | g0264 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03579 | hp2 | a0001 | c0004 | t0001 | g0173 | AFR | MSL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03669 | hp1 | a0002 | c0003 | t0001 | g0057 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03669 | hp2 | a0001 | c0002 | t0002 | g0295 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03688 | hp1 | a0001 | c0001 | t0001 | g0172 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03688 | hp2 | a0001 | c0004 | t0001 | g0110 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03704 | hp1 | a0002 | c0003 | t0001 | g0081 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03704 | hp2 | a0001 | c0004 | t0001 | g0038 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03710 | hp1 | a0002 | c0055 | t0001 | g0049 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03710 | hp2 | a0001 | c0001 | t0001 | g0228 | SAS | PJL | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03831 | hp1 | a0002 | c0003 | t0001 | g0023 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03831 | hp2 | a0002 | c0003 | t0001 | g0027 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03834 | hp1 | a0001 | c0001 | t0001 | g0062 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03834 | hp2 | a0001 | c0001 | t0001 | g0136 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03927 | hp1 | a0001 | c0001 | t0001 | g0034 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03927 | hp2 | a0001 | c0050 | t0002 | g0297 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03942 | hp1 | a0002 | c0003 | t0001 | g0054 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG03942 | hp2 | a0001 | c0001 | t0001 | g0056 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04115 | hp1 | a0001 | c0002 | t0001 | g0320 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04115 | hp2 | a0010 | c0057 | t0001 | g0220 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04184 | hp1 | a0002 | c0003 | t0001 | g0024 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04184 | hp2 | a0001 | c0002 | t0002 | g0289 | SAS | BEB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04199 | hp1 | a0001 | c0001 | t0001 | g0125 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04199 | hp2 | a0003 | c0008 | t0003 | g0198 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04204 | hp1 | a0002 | c0013 | t0001 | g0216 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04204 | hp2 | a0002 | c0003 | t0001 | g0058 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0126 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG04228 | hp2 | a0002 | c0003 | t0001 | g0055 | SAS | STU | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18522 | hp1 | a0004 | c0005 | t0004 | g0212 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18522 | hp2 | a0009 | c0058 | t0001 | g0093 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0138 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18612 | hp2 | a0001 | c0001 | t0001 | g0140 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18747 | hp1 | a0001 | c0006 | t0001 | g0164 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18747 | hp2 | a0001 | c0033 | t0002 | g0020 | EAS | CHB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18906 | hp1 | a0002 | c0029 | t0001 | g0066 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18906 | hp2 | a0001 | c0007 | t0005 | g0064 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0180 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18941 | hp2 | a0003 | c0008 | t0003 | g0201 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18942 | hp1 | a0001 | c0040 | t0001 | g0010 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18942 | hp2 | a0001 | c0002 | t0012 | g0020 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18943 | hp1 | a0001 | c0002 | t0002 | g0317 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18943 | hp2 | a0001 | c0001 | t0001 | g0101 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18944 | hp1 | a0003 | c0008 | t0003 | g0045 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18944 | hp2 | a0001 | c0006 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18945 | hp1 | a0001 | c0001 | t0001 | g0169 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18945 | hp2 | a0001 | c0002 | t0002 | g0319 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18947 | hp1 | a0001 | c0002 | t0002 | g0018 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18947 | hp2 | a0001 | c0002 | t0001 | g0040 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18948 | hp1 | a0001 | c0002 | t0013 | g0313 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18948 | hp2 | a0001 | c0001 | t0001 | g0111 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18949 | hp1 | a0003 | c0008 | t0003 | g0051 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18949 | hp2 | a0001 | c0002 | t0002 | g0271 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18950 | hp1 | a0001 | c0001 | t0001 | g0184 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18950 | hp2 | a0001 | c0002 | t0002 | g0279 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18951 | hp1 | a0001 | c0002 | t0002 | g0292 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18951 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18952 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18952 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18954 | hp1 | a0001 | c0002 | t0002 | g0018 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18954 | hp2 | a0001 | c0006 | t0001 | g0187 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18964 | hp1 | a0001 | c0006 | t0001 | g0165 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18964 | hp2 | a0001 | c0002 | t0002 | g0016 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18965 | hp1 | a0001 | c0001 | t0001 | g0104 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18965 | hp2 | a0001 | c0002 | t0002 | g0315 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18966 | hp1 | a0001 | c0001 | t0001 | g0043 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18966 | hp2 | a0001 | c0002 | t0002 | g0005 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0011 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18969 | hp2 | a0004 | c0005 | t0001 | g0210 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18971 | hp1 | a0001 | c0002 | t0002 | g0251 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18971 | hp2 | a0001 | c0002 | t0002 | g0017 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18975 | hp1 | a0001 | c0002 | t0002 | g0300 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18975 | hp2 | a0001 | c0002 | t0002 | g0255 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18977 | hp1 | a0004 | c0005 | t0001 | g0203 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18977 | hp2 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18979 | hp1 | a0001 | c0002 | t0002 | g0327 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0171 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18980 | hp1 | a0005 | c0065 | t0002 | g0310 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18980 | hp2 | a0001 | c0002 | t0002 | g0287 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18981 | hp1 | a0001 | c0006 | t0001 | g0241 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18981 | hp2 | a0001 | c0002 | t0002 | g0272 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18982 | hp1 | a0001 | c0006 | t0001 | g0179 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18982 | hp2 | a0005 | c0017 | t0002 | g0311 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18983 | hp1 | a0001 | c0006 | t0001 | g0150 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0153 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18984 | hp1 | a0001 | c0006 | t0001 | g0302 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18984 | hp2 | a0001 | c0001 | t0001 | g0137 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18985 | hp1 | a0002 | c0003 | t0001 | g0073 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18985 | hp2 | a0001 | c0002 | t0002 | g0286 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18986 | hp1 | a0003 | c0010 | t0001 | g0309 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18986 | hp2 | a0001 | c0002 | t0002 | g0278 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18988 | hp1 | a0001 | c0001 | t0001 | g0178 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18988 | hp2 | a0001 | c0002 | t0002 | g0275 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18989 | hp1 | a0011 | c0066 | t0002 | g0282 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18989 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18990 | hp1 | a0001 | c0006 | t0001 | g0305 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18994 | hp1 | a0001 | c0001 | t0001 | g0242 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18994 | hp2 | a0003 | c0008 | t0003 | g0192 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18998 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18998 | hp2 | a0001 | c0014 | t0001 | g0014 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19000 | hp2 | a0003 | c0010 | t0002 | g0323 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19003 | hp1 | a0001 | c0001 | t0001 | g0050 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19003 | hp2 | a0001 | c0002 | t0002 | g0293 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19005 | hp1 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19005 | hp2 | a0001 | c0014 | t0001 | g0003 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19009 | hp1 | a0001 | c0006 | t0001 | g0303 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19009 | hp2 | a0001 | c0014 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19010 | hp1 | a0001 | c0002 | t0002 | g0314 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19010 | hp2 | a0001 | c0002 | t0002 | g0283 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19012 | hp1 | a0001 | c0002 | t0002 | g0017 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19012 | hp2 | a0001 | c0002 | t0002 | g0304 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19030 | hp1 | a0002 | c0003 | t0001 | g0072 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19030 | hp2 | a0001 | c0046 | t0001 | g0248 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19043 | hp1 | a0001 | c0023 | t0001 | g0250 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19043 | hp2 | a0012 | c0051 | t0001 | g0224 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19054 | hp1 | a0001 | c0038 | t0001 | g0130 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19054 | hp2 | a0001 | c0002 | t0002 | g0004 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19055 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19055 | hp2 | a0001 | c0024 | t0002 | g0318 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19056 | hp1 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19056 | hp2 | a0001 | c0002 | t0002 | g0299 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19057 | hp1 | a0001 | c0002 | t0002 | g0288 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19057 | hp2 | a0001 | c0020 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19060 | hp1 | a0001 | c0001 | t0001 | g0117 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19060 | hp2 | a0001 | c0001 | t0001 | g0114 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19065 | hp1 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19065 | hp2 | a0002 | c0003 | t0001 | g0079 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19066 | hp1 | a0001 | c0001 | t0001 | g0102 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19066 | hp2 | a0001 | c0002 | t0002 | g0001 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19068 | hp1 | a0001 | c0043 | t0002 | g0284 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19068 | hp2 | a0003 | c0016 | t0001 | g0199 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19070 | hp1 | a0002 | c0003 | t0001 | g0078 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19070 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19079 | hp1 | a0001 | c0037 | t0001 | g0014 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19079 | hp2 | a0001 | c0002 | t0002 | g0021 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19080 | hp1 | a0002 | c0003 | t0001 | g0077 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19080 | hp2 | a0001 | c0020 | t0001 | g0118 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19083 | hp1 | a0001 | c0002 | t0002 | g0312 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19083 | hp2 | a0013 | c0052 | t0001 | g0159 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19087 | hp1 | a0001 | c0006 | t0001 | g0166 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19087 | hp2 | a0001 | c0002 | t0002 | g0270 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0149 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19088 | hp2 | a0001 | c0024 | t0002 | g0005 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19089 | hp1 | a0001 | c0002 | t0002 | g0267 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19089 | hp2 | a0001 | c0039 | t0001 | g0280 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19090 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19090 | hp2 | a0001 | c0002 | t0002 | g0306 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19091 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19091 | hp2 | a0001 | c0002 | t0002 | g0281 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19240 | hp1 | a0003 | c0010 | t0001 | g0208 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA19240 | hp2 | a0001 | c0002 | t0002 | g0322 | AFR | YRI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20129 | hp1 | a0001 | c0004 | t0001 | g0132 | AFR | ASW | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20129 | hp2 | a0009 | c0059 | t0001 | g0094 | AFR | ASW | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20752 | hp1 | a0001 | c0044 | t0003 | g0196 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20752 | hp2 | a0001 | c0004 | t0001 | g0105 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20805 | hp1 | a0014 | c0053 | t0001 | g0087 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20805 | hp2 | a0004 | c0005 | t0004 | g0214 | EUR | TSI | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20905 | hp1 | a0001 | c0001 | t0001 | g0156 | SAS | GIH | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0213 | SAS | GIH | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01123 | hp1 | a0001 | c0019 | t0001 | g0330 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG01123 | hp2 | a0001 | c0004 | t0001 | g0008 | AMR | CLM | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02109 | hp1 | a0006 | c0028 | t0001 | g0097 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02109 | hp2 | a0002 | c0061 | t0001 | g0067 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02486 | hp1 | a0004 | c0005 | t0004 | g0209 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02486 | hp2 | a0002 | c0012 | t0007 | g0029 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02559 | hp1 | a0001 | c0007 | t0005 | g0063 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG02559 | hp2 | a0001 | c0007 | t0003 | g0246 | AFR | ACB | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG06807 | hp1 | a0007 | c0030 | t0002 | g0095 | AFR | USA | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
HG06807 | hp2 | a0003 | c0016 | t0001 | g0230 | AFR | USA | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18955 | hp1 | a0005 | c0017 | t0002 | g0257 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA18955 | hp2 | a0001 | c0002 | t0002 | g0269 | EAS | JPT | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA21309 | hp1 | a0002 | c0003 | t0001 | g0069 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
NA21309 | hp2 | a0001 | c0025 | t0001 | g0231 | AFR | LWK | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
homoSapiens | chm13v2 | a0001 | c0001 | t0006 | g0170 | REF | REF | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
homoSapiens | grch38p0 | a0002 | c0003 | t0001 | g0265 | REF | REF | COL6A2_chr21_46093112_46137848 | COL6A2 | chr21 | 46093112 | 46137848 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46111519 | C | G | 1 | a0011 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.43C>G | p.Leu15Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/28 | 132/3445 | 43/3060 | 15/1019 | chr21 | 46111519 | |||
chr21:46111520 | T | G | 1 | a0011 | 1 | NA18989.hp1 | missense_variant | MODERATE | c.44T>G | p.Leu15Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/28 | 133/3445 | 44/3060 | 15/1019 | chr21 | 46111520 | |||
chr21:46112362 | G | A | 1 | a0012 | 1 | NA19043.hp2 | missense_variant | MODERATE | c.499G>A | p.Gly167Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 588/3445 | 499/3060 | 167/1019 | chr21 | 46112362 | |||
chr21:46112442 | C | G | 1 | a0001 | 1 | HG03927.hp2 | missense_variant | MODERATE | c.579C>G | p.Asn193Lys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 668/3445 | 579/3060 | 193/1019 | chr21 | 46112442 | |||
chr21:46112468 | G | A | 1 | a0001 | 1 | HG01928.hp1 | missense_variant | MODERATE | c.605G>A | p.Arg202Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 694/3445 | 605/3060 | 202/1019 | chr21 | 46112468 | |||
chr21:46112542 | G | A | 1 | a0001 | 6 | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(3): Show |
missense_variant | MODERATE | c.679G>A | p.Asp227Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 768/3445 | 679/3060 | 227/1019 | chr21 | 46112542 | |||
chr21:46115902 | G | A | 1 | a0001 | 1 | HG02965.hp1 | missense_variant | MODERATE | c.832G>A | p.Glu278Lys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 6/28 | 921/3445 | 832/3060 | 278/1019 | chr21 | 46115902 | |||
chr21:46117890 | C | G | 1 | a0001 | 1 | HG01516.hp2 | missense_variant | MODERATE | c.1070C>G | p.Pro357Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/28 | 1159/3445 | 1070/3060 | 357/1019 | chr21 | 46117890 | |||
chr21:46119046 | G | A | 9 | a0001 a0003 a0004 others(6): Show |
283 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(280): Show |
missense_variant | MODERATE | c.1196G>A | p.Ser399Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/28 | 1285/3445 | 1196/3060 | 399/1019 | chr21 | 46119046 | |||
chr21:46121563 | G | A | 1 | a0006 | 3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
missense_variant | MODERATE | c.1466G>A | p.Arg489Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/28 | 1555/3445 | 1466/3060 | 489/1019 | chr21 | 46121563 | |||
chr21:46124685 | G | A | 1 | a0001 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1706G>A | p.Arg569Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/28 | 1795/3445 | 1706/3060 | 569/1019 | chr21 | 46124685 | |||
chr21:46125275 | G | A | 1 | a0001 | 2 | HG03490.hp2 HG03492.hp1 |
missense_variant | MODERATE | c.1780G>A | p.Val594Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/28 | 1869/3445 | 1780/3060 | 594/1019 | chr21 | 46125275 | |||
chr21:46125593 | G | A | 1 | a0010 | 1 | HG04115.hp2 | missense_variant | MODERATE | c.1945G>A | p.Ala649Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/28 | 2034/3445 | 1945/3060 | 649/1019 | chr21 | 46125593 | |||
chr21:46125854 | G | A | 4 | a0001 a0009 a0013 others(1): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
missense_variant | MODERATE | c.2039G>A | p.Arg680His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2128/3445 | 2039/3060 | 680/1019 | chr21 | 46125854 | |||
chr21:46126147 | G | A | 1 | a0001 | 1 | NA19030.hp2 | missense_variant | MODERATE | c.2332G>A | p.Asp778Asn | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2421/3445 | 2332/3060 | 778/1019 | chr21 | 46126147 | |||
chr21:46126166 | G | A | 1 | a0001 | 2 | HG01123.hp1 HG01346.hp1 |
missense_variant | MODERATE | c.2351G>A | p.Arg784His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2440/3445 | 2351/3060 | 784/1019 | chr21 | 46126166 | |||
chr21:46126216 | A | G | 1 | a0001 | 2 | NA19055.hp2 NA19088.hp2 |
missense_variant | MODERATE | c.2401A>G | p.Met801Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2490/3445 | 2401/3060 | 801/1019 | chr21 | 46126216 | |||
chr21:46131980 | C | T | 1 | a0001 | 1 | NA19089.hp2 | missense_variant | MODERATE | c.2488C>T | p.Arg830Trp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2577/3445 | 2488/3060 | 830/1019 | chr21 | 46131980 | |||
chr21:46131995 | G | A | 1 | a0001 | 2 | NA19057.hp2 NA19080.hp2 |
missense_variant | MODERATE | c.2503G>A | p.Val835Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2592/3445 | 2503/3060 | 835/1019 | chr21 | 46131995 | |||
chr21:46132010 | G | A | 1 | a0001 | 1 | NA19079.hp1 | missense_variant | MODERATE | c.2518G>A | p.Gly840Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2607/3445 | 2518/3060 | 840/1019 | chr21 | 46132010 | |||
chr21:46132050 | G | A | 1 | a0001 | 1 | HG01975.hp2 | missense_variant | MODERATE | c.2558G>A | p.Arg853Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2647/3445 | 2558/3060 | 853/1019 | chr21 | 46132050 | |||
chr21:46132175 | A | C | 1 | a0008 | 2 | HG01516.hp1 HG01517.hp2 |
missense_variant | MODERATE | c.2683A>C | p.Ser895Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2772/3445 | 2683/3060 | 895/1019 | chr21 | 46132175 | |||
chr21:46132295 | G | A | 1 | a0004 | 17 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(14): Show |
missense_variant | MODERATE | c.2803G>A | p.Gly935Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2892/3445 | 2803/3060 | 935/1019 | chr21 | 46132295 | |||
chr21:46132419 | T | C | 1 | a0001 | 1 | NA19054.hp1 | missense_variant | MODERATE | c.2927T>C | p.Leu976Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3016/3445 | 2927/3060 | 976/1019 | chr21 | 46132419 | |||
chr21:46132436 | A | G | 1 | a0001 | 3 | NA18998.hp2 NA19005.hp2 NA19009.hp2 |
missense_variant | MODERATE | c.2944A>G | p.Met982Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3033/3445 | 2944/3060 | 982/1019 | chr21 | 46132436 | |||
chr21:46132452 | C | T | 1 | a0001 | 2 | HG01069.hp1 HG01071.hp2 |
missense_variant | MODERATE | c.2960C>T | p.Thr987Met | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3049/3445 | 2960/3060 | 987/1019 | chr21 | 46132452 | |||
chr21:46132472 | G | A | 4 | a0001 a0005 a0011 others(1): Show |
20 | HG00673.hp2 HG02083.hp1 NA18747.hp1 others(17): Show |
missense_variant | MODERATE | c.2980G>A | p.Ala994Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3069/3445 | 2980/3060 | 994/1019 | chr21 | 46132472 | |||
chr21:46132475 | G | A | 1 | a0001 | 2 | HG02965.hp1 HG03209.hp1 |
missense_variant | MODERATE | c.2983G>A | p.Ala995Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3072/3445 | 2983/3060 | 995/1019 | chr21 | 46132475 | |||
chr21:46132509 | C | T | 1 | a0001 | 2 | HG01243.hp2 HG02280.hp1 |
missense_variant | MODERATE | c.3017C>T | p.Ala1006Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3106/3445 | 3017/3060 | 1006/1019 | chr21 | 46132509 | |||
chr21:46132535 | A | C | 2 | a0001 a0007 |
8 | HG01884.hp2 HG01978.hp1 HG02258.hp2 others(5): Show |
missense_variant | MODERATE | c.3043A>C | p.Ile1015Leu | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3132/3445 | 3043/3060 | 1015/1019 | chr21 | 46132535 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46112274 | G | A | 1 | a0001c0033 | 1 | NA18747.hp2 | synonymous_variant | LOW | c.411G>A | p.Ala137Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 500/3445 | 411/3060 | 137/1019 | chr21 | 46112274 | |||
chr21:46112346 | C | T | 1 | a0003c0032 | 2 | HG02818.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.483C>T | p.Thr161Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 572/3445 | 483/3060 | 161/1019 | chr21 | 46112346 | |||
chr21:46112403 | C | A | 1 | a0011c0066 | 1 | NA18989.hp1 | synonymous_variant | LOW | c.540C>A | p.Ala180Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 629/3445 | 540/3060 | 180/1019 | chr21 | 46112403 | |||
chr21:46112490 | C | T | 1 | a0001c0049 | 1 | HG02698.hp2 | synonymous_variant | LOW | c.627C>T | p.His209His | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 716/3445 | 627/3060 | 209/1019 | chr21 | 46112490 | |||
chr21:46112526 | C | T | 7 | a0003c0010 a0003c0063 a0003c0064 others(4): Show |
31 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(28): Show |
synonymous_variant | LOW | c.663C>T | p.Pro221Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/28 | 752/3445 | 663/3060 | 221/1019 | chr21 | 46112526 | |||
chr21:46116668 | C | T | 1 | a0002c0062 | 1 | HG02809.hp1 | synonymous_variant | LOW | c.945C>T | p.Asp315Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 9/28 | 1034/3445 | 945/3060 | 315/1019 | chr21 | 46116668 | |||
chr21:46119065 | T | C | 1 | a0002c0055 | 1 | HG03710.hp1 | synonymous_variant | LOW | c.1215T>C | p.Pro405Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/28 | 1304/3445 | 1215/3060 | 405/1019 | chr21 | 46119065 | |||
chr21:46124662 | T | C | 1 | a0006c0056 | 1 | HG02647.hp2 | synonymous_variant | LOW | c.1683T>C | p.Gly561Gly | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/28 | 1772/3445 | 1683/3060 | 561/1019 | chr21 | 46124662 | |||
chr21:46124911 | C | T | 1 | a0002c0061 | 1 | HG02109.hp2 | synonymous_variant | LOW | c.1761C>T | p.Pro587Pro | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/28 | 1850/3445 | 1761/3060 | 587/1019 | chr21 | 46124911 | |||
chr21:46125909 | G | A | 24 | a0001c0001 a0001c0004 a0001c0006 others(21): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
synonymous_variant | LOW | c.2094G>A | p.Ala698Ala | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2183/3445 | 2094/3060 | 698/1019 | chr21 | 46125909 | |||
chr21:46125912 | C | T | 24 | a0001c0001 a0001c0004 a0001c0006 others(21): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
synonymous_variant | LOW | c.2097C>T | p.Gly699Gly | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2186/3445 | 2097/3060 | 699/1019 | chr21 | 46125912 | |||
chr21:46125975 | C | G | 3 | a0001c0035 a0001c0045 a0001c0047 |
3 | HG02965.hp1 HG02976.hp1 HG03209.hp1 |
synonymous_variant | LOW | c.2160C>G | p.Arg720Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2249/3445 | 2160/3060 | 720/1019 | chr21 | 46125975 | |||
chr21:46125978 | G | A | 5 | a0002c0012 a0002c0029 a0006c0028 others(2): Show |
12 | HG02109.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
synonymous_variant | LOW | c.2163G>A | p.Gln721Gln | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2252/3445 | 2163/3060 | 721/1019 | chr21 | 46125978 | |||
chr21:46125999 | G | A | 20 | a0001c0001 a0001c0006 a0001c0011 others(17): Show |
117 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(114): Show |
synonymous_variant | LOW | c.2184G>A | p.Val728Val | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2273/3445 | 2184/3060 | 728/1019 | chr21 | 46125999 | |||
chr21:46126011 | C | T | 1 | a0001c0040 | 1 | NA18942.hp1 | synonymous_variant | LOW | c.2196C>T | p.Asp732Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2285/3445 | 2196/3060 | 732/1019 | chr21 | 46126011 | |||
chr21:46126092 | C | T | 1 | a0009c0059 | 1 | NA20129.hp2 | synonymous_variant | LOW | c.2277C>T | p.Ile759Ile | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2366/3445 | 2277/3060 | 759/1019 | chr21 | 46126092 | |||
chr21:46126137 | C | T | 1 | a0003c0054 | 1 | HG01243.hp1 | synonymous_variant | LOW | c.2322C>T | p.Ser774Ser | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2411/3445 | 2322/3060 | 774/1019 | chr21 | 46126137 | |||
chr21:46126146 | C | T | 1 | a0005c0065 | 1 | NA18980.hp1 | synonymous_variant | LOW | c.2331C>T | p.Cys777Cys | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/28 | 2420/3445 | 2331/3060 | 777/1019 | chr21 | 46126146 | |||
chr21:46132084 | G | A | 1 | a0002c0029 | 2 | HG02451.hp2 NA18906.hp1 |
synonymous_variant | LOW | c.2592G>A | p.Thr864Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2681/3445 | 2592/3060 | 864/1019 | chr21 | 46132084 | |||
chr21:46132099 | C | T | 1 | a0001c0041 | 1 | HG01496.hp1 | synonymous_variant | LOW | c.2607C>T | p.Asp869Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2696/3445 | 2607/3060 | 869/1019 | chr21 | 46132099 | |||
chr21:46132102 | C | T | 1 | a0012c0051 | 1 | NA19043.hp2 | synonymous_variant | LOW | c.2610C>T | p.Asp870Asp | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2699/3445 | 2610/3060 | 870/1019 | chr21 | 46132102 | |||
chr21:46132189 | G | T | 1 | a0003c0064 | 1 | HG01257.hp2 | synonymous_variant | LOW | c.2697G>T | p.Thr899Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2786/3445 | 2697/3060 | 899/1019 | chr21 | 46132189 | |||
chr21:46132216 | A | G | 14 | a0001c0007 a0001c0026 a0001c0035 others(11): Show |
37 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(34): Show |
synonymous_variant | LOW | c.2724A>G | p.Thr908Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2813/3445 | 2724/3060 | 908/1019 | chr21 | 46132216 | |||
chr21:46132348 | G | A | 1 | a0002c0031 | 2 | HG02055.hp2 HG02970.hp1 |
synonymous_variant | LOW | c.2856G>A | p.Thr952Thr | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 2945/3445 | 2856/3060 | 952/1019 | chr21 | 46132348 | |||
chr21:46132471 | C | T | 6 | a0001c0009 a0001c0026 a0001c0044 others(3): Show |
22 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(19): Show |
synonymous_variant | LOW | c.2979C>T | p.Arg993Arg | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 3068/3445 | 2979/3060 | 993/1019 | chr21 | 46132471 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46098127 | G | T | 1 | a0002c0003t0015 | 1 | HG00621.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-74G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/28 | chr21 | 46098127 | |||||||
chr21:46132556 | C | T | 1 | a0001c0002t0014 | 1 | HG02015.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 4 | chr21 | 46132556 | ||||||
chr21:46132571 | G | A | 1 | a0001c0002t0009 | 1 | HG03540.hp1 | 3_prime_UTR_variant | MODIFIER | c.*19G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 19 | chr21 | 46132571 | ||||||
chr21:46132608 | T | G | 2 | a0001c0001t0006 a0001c0021t0006 |
3 | HG01069.hp1 HG01071.hp2 HG02683.hp2 |
3_prime_UTR_variant | MODIFIER | c.*56T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 56 | chr21 | 46132608 | ||||||
chr21:46132613 | G | A | 1 | a0004c0005t0004 | 13 | HG01074.hp1 HG01109.hp1 HG01884.hp1 others(10): Show |
3_prime_UTR_variant | MODIFIER | c.*61G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 61 | chr21 | 46132613 | ||||||
chr21:46132618 | C | G | 1 | a0002c0012t0007 | 3 | HG02257.hp1 HG02486.hp2 HG02622.hp2 |
3_prime_UTR_variant | MODIFIER | c.*66C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 66 | chr21 | 46132618 | ||||||
chr21:46132629 | C | A | 1 | a0001c0006t0010 | 1 | HG02083.hp1 | 3_prime_UTR_variant | MODIFIER | c.*77C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 77 | chr21 | 46132629 | ||||||
chr21:46132668 | T | C | 6 | a0001c0007t0003 a0001c0044t0003 a0002c0013t0003 others(3): Show |
20 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(17): Show |
3_prime_UTR_variant | MODIFIER | c.*116T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 116 | chr21 | 46132668 | ||||||
chr21:46132671 | A | G | 8 | a0001c0007t0003 a0001c0007t0005 a0001c0026t0005 others(5): Show |
26 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*119A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 119 | chr21 | 46132671 | ||||||
chr21:46132708 | G | A | 1 | a0001c0002t0008 | 2 | HG03491.hp1 HG03492.hp2 |
3_prime_UTR_variant | MODIFIER | c.*156G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 156 | chr21 | 46132708 | ||||||
chr21:46132710 | C | T | 19 | a0001c0002t0002 a0001c0002t0008 a0001c0002t0009 others(16): Show |
91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
3_prime_UTR_variant | MODIFIER | c.*158C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 158 | chr21 | 46132710 | ||||||
chr21:46132764 | C | T | 1 | a0001c0002t0013 | 1 | NA18948.hp1 | 3_prime_UTR_variant | MODIFIER | c.*212C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 212 | chr21 | 46132764 | ||||||
chr21:46132822 | C | A | 1 | a0001c0002t0012 | 1 | NA18942.hp2 | 3_prime_UTR_variant | MODIFIER | c.*270C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 270 | chr21 | 46132822 | ||||||
chr21:46132838 | C | T | 1 | a0001c0001t0011 | 1 | HG01175.hp2 | 3_prime_UTR_variant | MODIFIER | c.*286C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 28/28 | 286 | chr21 | 46132838 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:46098272 | T | C | 245 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(242): Show |
254 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(251): Show |
intron_variant | MODIFIER | c.-28+99T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098272 | |||||||
chr21:46098393 | G | C | 1 | a0001c0002t0002g0251 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.-28+220G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098393 | |||||||
chr21:46098456 | T | TG | 208 | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0011 others(205): Show |
215 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(212): Show |
intron_variant | MODIFIER | c.-28+290dupG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46098456 | ||||||
chr21:46098456 | T | TGG | 32 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0034 others(29): Show |
34 | HG00438.hp1 HG00544.hp1 HG00597.hp2 others(31): Show |
intron_variant | MODIFIER | c.-28+289_-28+290dup others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46098456 | ||||||
chr21:46098515 | C | T | 9 | a0001c0001t0011g0332 a0001c0009t0001g0022 a0001c0009t0001g0258 others(6): Show |
10 | HG00735.hp2 HG01099.hp2 HG01106.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28+342C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098515 | |||||||
chr21:46098521 | C | T | 2 | a0004c0005t0004g0237 a0004c0005t0004g0238 |
2 | HG01884.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.-28+348C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098521 | |||||||
chr21:46098565 | G | A | 1 | a0001c0015t0002g0259 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-28+392G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098565 | |||||||
chr21:46098608 | C | T | 1 | a0001c0001t0001g0236 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.-28+435C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098608 | |||||||
chr21:46098635 | G | A | 2 | a0001c0035t0001g0053 a0001c0045t0001g0052 |
2 | HG02965.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-28+462G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098635 | |||||||
chr21:46098657 | G | T | 1 | a0001c0002t0009g0328 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.-28+484G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098657 | |||||||
chr21:46098693 | T | A | 247 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(244): Show |
257 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
intron_variant | MODIFIER | c.-28+520T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098693 | |||||||
chr21:46098779 | G | A | 2 | a0001c0035t0001g0053 a0001c0045t0001g0052 |
2 | HG02965.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.-28+606G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098779 | |||||||
chr21:46098817 | G | A | 61 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0007t0005g0059 others(58): Show |
62 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(59): Show |
intron_variant | MODIFIER | c.-28+644G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098817 | |||||||
chr21:46098835 | A | C | 1 | a0003c0008t0003g0051 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-28+662A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098835 | |||||||
chr21:46098835 | A | T | 3 | a0006c0028t0001g0097 a0006c0028t0001g0098 a0006c0056t0001g0099 |
3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.-28+662A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098835 | |||||||
chr21:46098904 | G | A | 1 | a0004c0005t0001g0100 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-28+731G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098904 | |||||||
chr21:46098977 | C | G | 1 | a0004c0005t0004g0229 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.-28+804C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46098977 | |||||||
chr21:46099025 | C | G | 1 | a0001c0001t0001g0228 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.-28+852C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099025 | |||||||
chr21:46099099 | T | C | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-28+926T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099099 | |||||||
chr21:46099112 | G | T | 61 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0007t0005g0059 others(58): Show |
62 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(59): Show |
intron_variant | MODIFIER | c.-28+939G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099112 | |||||||
chr21:46099261 | G | A | 118 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(115): Show |
125 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(122): Show |
intron_variant | MODIFIER | c.-28+1088G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099261 | |||||||
chr21:46099295 | T | A | 1 | a0001c0001t0001g0034 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.-28+1122T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099295 | |||||||
chr21:46099319 | G | T | 1 | a0001c0002t0002g0327 | 1 | NA18979.hp1 | intron_variant | MODIFIER | c.-28+1146G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099319 | |||||||
chr21:46099360 | G | T | 93 | a0001c0001t0011g0332 a0001c0002t0001g0320 a0001c0002t0002g0001 others(90): Show |
107 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(104): Show |
intron_variant | MODIFIER | c.-28+1187G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099360 | |||||||
chr21:46099395 | C | T | 227 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(224): Show |
248 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(245): Show |
intron_variant | MODIFIER | c.-28+1222C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099395 | |||||||
chr21:46099444 | C | G | 1 | a0012c0051t0001g0224 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.-28+1271C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099444 | |||||||
chr21:46099455 | C | CA | 17 | a0001c0001t0001g0056 a0001c0001t0001g0101 a0001c0001t0001g0102 others(14): Show |
18 | HG00597.hp1 HG01109.hp1 HG01257.hp2 others(15): Show |
intron_variant | MODIFIER | c.-28+1309dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CA | C | 127 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(124): Show |
135 | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.-28+1309delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CAA | C | 24 | a0001c0001t0001g0050 a0001c0004t0001g0185 a0001c0004t0001g0247 others(21): Show |
24 | HG01243.hp2 HG01261.hp2 HG01433.hp1 others(21): Show |
intron_variant | MODIFIER | c.-28+1308_-28+1309d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CAAAAA | C | 8 | a0001c0002t0002g0268 a0001c0002t0002g0269 a0001c0002t0002g0270 others(5): Show |
8 | HG00423.hp1 HG00738.hp1 HG01346.hp2 others(5): Show |
intron_variant | MODIFIER | c.-28+1305_-28+1309d others(7): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099455 | CAAAAAA | C | 82 | a0001c0001t0011g0332 a0001c0002t0001g0320 a0001c0002t0002g0001 others(79): Show |
96 | HG00140.hp2 HG00544.hp2 HG00639.hp2 others(93): Show |
intron_variant | MODIFIER | c.-28+1304_-28+1309d others(8): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099455 | ||||||
chr21:46099592 | G | T | 1 | a0001c0002t0014g0326 | 1 | HG02015.hp2 | intron_variant | MODIFIER | c.-28+1419G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099592 | |||||||
chr21:46099621 | T | C | 259 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(256): Show |
269 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
intron_variant | MODIFIER | c.-28+1448T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099621 | |||||||
chr21:46099806 | A | G | 227 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(224): Show |
248 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(245): Show |
intron_variant | MODIFIER | c.-28+1633A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099806 | |||||||
chr21:46099871 | A | G | 4 | a0001c0015t0002g0259 a0001c0015t0002g0324 a0001c0015t0002g0325 others(1): Show |
4 | HG01884.hp2 HG01978.hp1 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.-28+1698A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099871 | |||||||
chr21:46099889 | C | CG | 13 | a0001c0007t0005g0059 a0002c0003t0001g0024 a0002c0003t0001g0028 others(10): Show |
13 | HG00544.hp1 HG02145.hp1 HG02486.hp2 others(10): Show |
intron_variant | MODIFIER | c.-28+1716_-28+1717i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099889 | |||||||
chr21:46099889 | C | CTTTTTTT | 11 | a0001c0001t0001g0104 a0001c0001t0001g0131 a0001c0001t0001g0228 others(8): Show |
12 | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.-28+1733_-28+1739d others(9): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | C | CTTTTTTT others(1): Show |
71 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(68): Show |
74 | HG00140.hp1 HG00323.hp1 HG00609.hp1 others(71): Show |
intron_variant | MODIFIER | c.-28+1732_-28+1739d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | C | CTTTTTTT others(2): Show |
38 | a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0013 others(35): Show |
41 | HG00558.hp1 HG00558.hp2 HG00738.hp2 others(38): Show |
intron_variant | MODIFIER | c.-28+1731_-28+1739d others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | C | CTTTTTTT others(3): Show |
3 | a0001c0001t0001g0037 a0001c0001t0001g0126 a0001c0001t0001g0184 |
3 | HG02055.hp1 HG04228.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.-28+1730_-28+1739d others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | CT | C | 39 | a0001c0002t0001g0320 a0001c0002t0002g0270 a0001c0002t0002g0271 others(36): Show |
40 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(37): Show |
intron_variant | MODIFIER | c.-28+1739delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | CTT | C | 73 | a0001c0002t0002g0001 a0001c0002t0002g0004 a0001c0002t0002g0005 others(70): Show |
86 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(83): Show |
intron_variant | MODIFIER | c.-28+1738_-28+1739d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099889 | CTTT | C | 11 | a0001c0001t0011g0332 a0001c0002t0002g0266 a0001c0002t0002g0267 others(8): Show |
12 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(9): Show |
intron_variant | MODIFIER | c.-28+1737_-28+1739d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46099889 | ||||||
chr21:46099890 | T | G | 43 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0007t0005g0063 others(40): Show |
44 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(41): Show |
intron_variant | MODIFIER | c.-28+1717T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099890 | |||||||
chr21:46099891 | T | G | 6 | a0002c0003t0001g0069 a0002c0003t0001g0072 a0002c0013t0003g0068 others(3): Show |
6 | HG02257.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28+1718T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099891 | |||||||
chr21:46099925 | A | T | 1 | a0002c0055t0001g0049 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-28+1752A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099925 | |||||||
chr21:46099942 | G | T | 1 | a0001c0002t0002g0319 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.-28+1769G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099942 | |||||||
chr21:46099948 | G | C | 34 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0002c0003t0001g0007 others(31): Show |
35 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(32): Show |
intron_variant | MODIFIER | c.-28+1775G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099948 | |||||||
chr21:46099961 | A | G | 1 | a0001c0025t0001g0231 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.-28+1788A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46099961 | |||||||
chr21:46100081 | G | GT | 4 | a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0171 others(1): Show |
4 | HG01106.hp2 NA18979.hp2 NA19003.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+1915dupT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100081 | ||||||
chr21:46100221 | G | A | 2 | a0001c0002t0002g0276 a0001c0002t0002g0277 |
2 | HG02922.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-28+2048G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100221 | |||||||
chr21:46100310 | G | GTGTT | 3 | a0001c0035t0001g0053 a0003c0008t0003g0046 a0008c0027t0003g0015 |
4 | HG01516.hp1 HG01517.hp2 HG02965.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+2156_-28+2159d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100310 | ||||||
chr21:46100346 | G | T | 135 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(132): Show |
142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.-28+2173G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100346 | |||||||
chr21:46100388 | G | A | 1 | a0001c0002t0002g0278 | 1 | NA18986.hp2 | intron_variant | MODIFIER | c.-28+2215G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100388 | |||||||
chr21:46100498 | A | G | 1 | a0001c0001t0001g0125 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.-28+2325A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100498 | |||||||
chr21:46100510 | G | A | 131 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(128): Show |
138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.-28+2337G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100510 | |||||||
chr21:46100688 | T | TA | 135 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(132): Show |
142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.-28+2517dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46100688 | ||||||
chr21:46100747 | G | T | 6 | a0001c0004t0001g0247 a0001c0007t0003g0245 a0001c0007t0003g0246 others(3): Show |
6 | HG01261.hp2 HG02559.hp2 HG02809.hp2 others(3): Show |
intron_variant | MODIFIER | c.-28+2574G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100747 | |||||||
chr21:46100790 | C | G | 1 | a0001c0004t0001g0247 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.-28+2617C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46100790 | |||||||
chr21:46101178 | T | C | 1 | a0001c0001t0001g0172 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.-28+3005T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101178 | |||||||
chr21:46101411 | T | A | 2 | a0001c0004t0001g0247 a0001c0047t0001g0244 |
2 | HG02809.hp2 HG02976.hp1 |
intron_variant | MODIFIER | c.-28+3238T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101411 | |||||||
chr21:46101543 | C | T | 2 | a0001c0023t0001g0249 a0001c0023t0001g0250 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+3370C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101543 | |||||||
chr21:46101675 | C | T | 2 | a0001c0023t0001g0249 a0001c0023t0001g0250 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+3502C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101675 | |||||||
chr21:46101847 | AT | A | 40 | a0001c0001t0001g0062 a0001c0001t0001g0213 a0002c0003t0001g0023 others(37): Show |
40 | HG00438.hp2 HG00621.hp1 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.-28+3702delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATT | A | 47 | a0001c0001t0001g0056 a0001c0007t0005g0059 a0001c0044t0003g0196 others(44): Show |
49 | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(46): Show |
intron_variant | MODIFIER | c.-28+3701_-28+3702d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTT | A | 9 | a0001c0007t0005g0063 a0001c0007t0005g0064 a0001c0007t0005g0065 others(6): Show |
9 | HG00099.hp2 HG01433.hp1 HG02145.hp1 others(6): Show |
intron_variant | MODIFIER | c.-28+3700_-28+3702d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT | A | 25 | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0002t0002g0005 others(22): Show |
28 | HG00140.hp2 HG00735.hp2 HG01099.hp2 others(25): Show |
intron_variant | MODIFIER | c.-28+3696_-28+3702d others(9): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(1): Show |
A | 63 | a0001c0001t0001g0050 a0001c0002t0001g0320 a0001c0002t0002g0001 others(60): Show |
74 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(71): Show |
intron_variant | MODIFIER | c.-28+3695_-28+3702d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(2): Show |
A | 20 | a0001c0001t0001g0114 a0001c0001t0001g0171 a0001c0001t0001g0181 others(17): Show |
20 | HG00738.hp2 HG01168.hp1 HG01169.hp1 others(17): Show |
intron_variant | MODIFIER | c.-28+3694_-28+3702d others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(3): Show |
A | 100 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(97): Show |
106 | HG00140.hp1 HG00323.hp1 HG00558.hp1 others(103): Show |
intron_variant | MODIFIER | c.-28+3693_-28+3702d others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(4): Show |
A | 15 | a0001c0001t0001g0034 a0001c0001t0001g0126 a0001c0001t0001g0127 others(12): Show |
16 | HG00280.hp1 HG00280.hp2 HG01123.hp2 others(13): Show |
intron_variant | MODIFIER | c.-28+3692_-28+3702d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101847 | ATTTTTTT others(5): Show |
A | 1 | a0003c0010t0001g0188 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-28+3691_-28+3702d others(14): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101847 | ||||||
chr21:46101933 | G | GA | 130 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(127): Show |
137 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.-28+3770dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46101933 | ||||||
chr21:46101982 | T | G | 131 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(128): Show |
138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.-28+3809T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46101982 | |||||||
chr21:46102145 | A | G | 1 | a0002c0003t0001g0073 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-28+3972A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102145 | |||||||
chr21:46102185 | C | A | 86 | a0001c0001t0011g0332 a0001c0002t0001g0320 a0001c0002t0002g0001 others(83): Show |
100 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(97): Show |
intron_variant | MODIFIER | c.-28+4012C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102185 | |||||||
chr21:46102222 | G | C | 289 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(286): Show |
311 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(308): Show |
intron_variant | MODIFIER | c.-28+4049G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102222 | |||||||
chr21:46102652 | C | G | 1 | a0004c0005t0004g0048 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-28+4479C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102652 | |||||||
chr21:46102683 | G | A | 3 | a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0062t0001g0227 |
3 | HG02809.hp1 HG02818.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.-28+4510G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102683 | |||||||
chr21:46102706 | A | AT | 108 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(105): Show |
115 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(112): Show |
intron_variant | MODIFIER | c.-28+4546dupT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | ||||||
chr21:46102706 | A | ATT | 6 | a0001c0001t0001g0050 a0001c0001t0001g0162 a0001c0001t0001g0242 others(3): Show |
6 | HG02083.hp1 NA18747.hp1 NA18964.hp1 others(3): Show |
intron_variant | MODIFIER | c.-28+4545_-28+4546d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | ||||||
chr21:46102706 | AT | A | 99 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0001t0001g0213 others(96): Show |
101 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(98): Show |
intron_variant | MODIFIER | c.-28+4546delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46102706 | ||||||
chr21:46102885 | T | C | 228 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(225): Show |
249 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(246): Show |
intron_variant | MODIFIER | c.-28+4712T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102885 | |||||||
chr21:46102934 | A | G | 337 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(334): Show |
360 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
intron_variant | MODIFIER | c.-28+4761A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46102934 | |||||||
chr21:46103062 | C | T | 1 | a0001c0001t0001g0062 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.-28+4889C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103062 | |||||||
chr21:46103503 | C | G | 62 | a0001c0001t0001g0056 a0001c0001t0001g0062 a0001c0007t0005g0059 others(59): Show |
63 | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(60): Show |
intron_variant | MODIFIER | c.-28+5330C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103503 | |||||||
chr21:46103578 | G | A | 2 | a0001c0001t0001g0162 a0001c0001t0001g0174 |
2 | HG00558.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.-28+5405G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103578 | |||||||
chr21:46103676 | G | T | 1 | a0001c0015t0002g0259 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.-28+5503G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103676 | |||||||
chr21:46103691 | G | A | 4 | a0001c0023t0001g0249 a0001c0023t0001g0250 a0007c0030t0002g0095 others(1): Show |
4 | HG02630.hp1 HG02717.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.-28+5518G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103691 | |||||||
chr21:46103754 | T | A | 1 | a0002c0003t0001g0075 | 1 | HG00099.hp2 | intron_variant | MODIFIER | c.-28+5581T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103754 | |||||||
chr21:46103815 | C | T | 9 | a0001c0004t0001g0260 a0001c0009t0001g0022 a0001c0009t0001g0252 others(6): Show |
10 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-28+5642C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103815 | |||||||
chr21:46103906 | C | T | 1 | a0001c0004t0001g0173 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-28+5733C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103906 | |||||||
chr21:46103925 | A | T | 7 | a0003c0008t0003g0045 a0003c0008t0003g0051 a0003c0008t0003g0190 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.-28+5752A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103925 | |||||||
chr21:46103976 | A | G | 1 | a0003c0016t0001g0230 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.-28+5803A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46103976 | |||||||
chr21:46104149 | A | C | 3 | a0001c0022t0001g0235 a0001c0022t0001g0253 a0001c0025t0001g0231 |
3 | HG01243.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-28+5976A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104149 | |||||||
chr21:46104150 | A | G | 1 | a0001c0001t0001g0050 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-28+5977A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104150 | |||||||
chr21:46104151 | G | A | 1 | a0001c0001t0001g0050 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.-28+5978G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104151 | |||||||
chr21:46104171 | GA | G | 129 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(126): Show |
136 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(133): Show |
intron_variant | MODIFIER | c.-28+6007delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46104171 | ||||||
chr21:46104172 | A | G | 1 | a0002c0055t0001g0049 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.-28+5999A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104172 | |||||||
chr21:46104269 | A | G | 2 | a0001c0023t0001g0249 a0001c0023t0001g0250 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-28+6096A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104269 | |||||||
chr21:46104466 | A | C | 135 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(132): Show |
142 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
intron_variant | MODIFIER | c.-28+6293A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104466 | |||||||
chr21:46104518 | G | T | 5 | a0002c0003t0001g0221 a0002c0003t0001g0222 a0002c0003t0001g0223 others(2): Show |
5 | HG01433.hp1 HG02055.hp2 HG02970.hp1 others(2): Show |
intron_variant | MODIFIER | c.-28+6345G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104518 | |||||||
chr21:46104570 | T | C | 1 | a0007c0030t0002g0095 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.-28+6397T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104570 | |||||||
chr21:46104701 | A | G | 4 | a0003c0008t0003g0046 a0003c0008t0003g0191 a0003c0008t0003g0198 others(1): Show |
5 | HG01516.hp1 HG01517.hp2 HG01981.hp2 others(2): Show |
intron_variant | MODIFIER | c.-28+6528A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104701 | |||||||
chr21:46104702 | G | C | 1 | a0003c0032t0001g0239 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.-28+6529G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104702 | |||||||
chr21:46104844 | A | G | 1 | a0001c0001t0001g0114 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.-27-6606A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104844 | |||||||
chr21:46104900 | A | T | 1 | a0003c0008t0003g0051 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-27-6550A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46104900 | |||||||
chr21:46105042 | C | T | 131 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(128): Show |
138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.-27-6408C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105042 | |||||||
chr21:46105160 | T | A | 1 | a0002c0012t0007g0029 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.-27-6290T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105160 | |||||||
chr21:46105190 | C | T | 3 | a0001c0015t0002g0259 a0001c0015t0002g0324 a0001c0015t0002g0325 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-6260C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105190 | |||||||
chr21:46105333 | C | G | 3 | a0003c0010t0001g0188 a0003c0010t0001g0189 a0003c0010t0001g0195 |
3 | HG02145.hp2 HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.-27-6117C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105333 | |||||||
chr21:46105393 | A | G | 1 | a0002c0013t0003g0068 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.-27-6057A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105393 | |||||||
chr21:46105426 | T | C | 9 | a0001c0004t0001g0260 a0001c0009t0001g0022 a0001c0009t0001g0252 others(6): Show |
10 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(7): Show |
intron_variant | MODIFIER | c.-27-6024T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105426 | |||||||
chr21:46105771 | A | G | 1 | a0001c0004t0001g0173 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.-27-5679A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105771 | |||||||
chr21:46105910 | A | C | 1 | a0007c0060t0002g0071 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-27-5540A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46105910 | |||||||
chr21:46106042 | C | T | 1 | a0004c0005t0004g0202 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.-27-5408C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106042 | |||||||
chr21:46106229 | A | G | 1 | a0003c0008t0003g0190 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.-27-5221A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106229 | |||||||
chr21:46106326 | G | A | 233 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(230): Show |
254 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(251): Show |
intron_variant | MODIFIER | c.-27-5124G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106326 | |||||||
chr21:46106805 | G | A | 124 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(121): Show |
131 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.-27-4645G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106805 | |||||||
chr21:46106864 | T | C | 1 | a0002c0003t0001g0061 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.-27-4586T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106864 | |||||||
chr21:46106966 | A | T | 1 | a0001c0004t0001g0161 | 1 | HG01168.hp2 | intron_variant | MODIFIER | c.-27-4484A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46106966 | |||||||
chr21:46107031 | C | T | 1 | a0001c0001t0001g0213 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.-27-4419C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107031 | |||||||
chr21:46107221 | T | G | 3 | a0001c0015t0002g0259 a0001c0015t0002g0324 a0001c0015t0002g0325 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-4229T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107221 | |||||||
chr21:46107278 | C | G | 235 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(232): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.-27-4172C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107278 | |||||||
chr21:46107294 | G | A | 235 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(232): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.-27-4156G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107294 | |||||||
chr21:46107355 | T | C | 282 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(279): Show |
304 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show |
intron_variant | MODIFIER | c.-27-4095T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107355 | |||||||
chr21:46107455 | T | C | 100 | a0001c0001t0001g0141 a0001c0001t0001g0169 a0001c0001t0001g0183 others(97): Show |
114 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(111): Show |
intron_variant | MODIFIER | c.-27-3995T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107455 | |||||||
chr21:46107496 | T | A | 2 | a0001c0023t0001g0249 a0001c0023t0001g0250 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.-27-3954T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107496 | |||||||
chr21:46107594 | G | A | 235 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(232): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.-27-3856G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107594 | |||||||
chr21:46107695 | T | G | 1 | a0004c0005t0001g0203 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.-27-3755T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107695 | |||||||
chr21:46107798 | C | G | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-3652C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107798 | |||||||
chr21:46107974 | T | G | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-3476T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46107974 | |||||||
chr21:46108105 | TA | T | 52 | a0001c0001t0001g0213 a0001c0002t0002g0281 a0001c0002t0002g0304 others(49): Show |
53 | HG00140.hp2 HG00438.hp2 HG00735.hp2 others(50): Show |
intron_variant | MODIFIER | c.-27-3344delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108105 | |||||||
chr21:46108106 | A | T | 6 | a0001c0001t0001g0174 a0001c0046t0001g0248 a0001c0047t0001g0244 others(3): Show |
6 | HG00558.hp2 HG00621.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27-3344A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108106 | |||||||
chr21:46108106 | AT | A | 78 | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0002t0001g0320 others(75): Show |
91 | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(88): Show |
intron_variant | MODIFIER | c.-27-3335delT | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46108106 | ||||||
chr21:46108108 | T | A | 32 | a0001c0001t0001g0106 a0001c0001t0001g0141 a0001c0001t0001g0142 others(29): Show |
32 | HG00140.hp1 HG00438.hp1 HG00544.hp1 others(29): Show |
intron_variant | MODIFIER | c.-27-3342T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108108 | |||||||
chr21:46108109 | T | A | 1 | a0001c0002t0002g0283 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.-27-3341T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108109 | |||||||
chr21:46108750 | A | G | 1 | a0002c0003t0001g0084 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.-27-2700A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108750 | |||||||
chr21:46108856 | C | T | 3 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0025t0001g0234 |
3 | HG01261.hp2 HG02559.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-27-2594C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108856 | |||||||
chr21:46108996 | G | A | 115 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(112): Show |
121 | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(118): Show |
intron_variant | MODIFIER | c.-27-2454G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46108996 | |||||||
chr21:46109229 | G | A | 6 | a0001c0044t0003g0196 a0003c0008t0003g0046 a0003c0008t0003g0191 others(3): Show |
7 | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(4): Show |
intron_variant | MODIFIER | c.-27-2221G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109229 | |||||||
chr21:46109311 | G | A | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2139G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109311 | |||||||
chr21:46109327 | G | A | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2123G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109327 | |||||||
chr21:46109426 | C | T | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-2024C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109426 | |||||||
chr21:46109434 | G | A | 94 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(91): Show |
108 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(105): Show |
intron_variant | MODIFIER | c.-27-2016G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109434 | |||||||
chr21:46109442 | C | T | 2 | a0001c0007t0003g0246 a0001c0025t0001g0234 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-2008C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109442 | |||||||
chr21:46109443 | G | A | 1 | a0001c0004t0001g0009 | 2 | HG00323.hp1 HG03017.hp2 |
intron_variant | MODIFIER | c.-27-2007G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109443 | |||||||
chr21:46109451 | G | A | 3 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0025t0001g0234 |
3 | HG01261.hp2 HG02559.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-27-1999G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109451 | |||||||
chr21:46109522 | C | G | 1 | a0002c0003t0001g0073 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-27-1928C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109522 | |||||||
chr21:46109532 | C | T | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-1918C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109532 | |||||||
chr21:46109823 | G | T | 2 | a0001c0018t0001g0168 a0001c0018t0001g0186 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.-27-1627G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109823 | |||||||
chr21:46109874 | T | C | 1 | a0001c0002t0002g0268 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.-27-1576T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109874 | |||||||
chr21:46109908 | T | C | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-27-1542T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109908 | |||||||
chr21:46109978 | A | G | 1 | a0002c0012t0001g0025 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-27-1472A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46109978 | |||||||
chr21:46110149 | A | G | 1 | a0005c0017t0002g0311 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.-27-1301A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110149 | |||||||
chr21:46110284 | C | T | 1 | a0002c0003t0001g0027 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.-27-1166C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110284 | |||||||
chr21:46110375 | A | C | 290 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(287): Show |
312 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(309): Show |
intron_variant | MODIFIER | c.-27-1075A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110375 | |||||||
chr21:46110401 | G | A | 1 | a0003c0008t0003g0192 | 1 | NA18994.hp2 | intron_variant | MODIFIER | c.-27-1049G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110401 | |||||||
chr21:46110476 | A | G | 3 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0025t0001g0234 |
3 | HG01261.hp2 HG02559.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.-27-974A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110476 | |||||||
chr21:46110629 | G | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-821G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110629 | |||||||
chr21:46110688 | T | C | 143 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(140): Show |
150 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(147): Show |
intron_variant | MODIFIER | c.-27-762T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110688 | |||||||
chr21:46110721 | G | A | 1 | a0010c0057t0001g0220 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.-27-729G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110721 | |||||||
chr21:46110772 | C | T | 2 | a0001c0007t0003g0246 a0001c0025t0001g0234 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-678C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110772 | |||||||
chr21:46110777 | A | AGCACAGT others(46): Show |
133 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(130): Show |
140 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.-27-644_-27-643ins others(53): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46110777 | ||||||
chr21:46110777 | A | AGCACAGT others(46): Show |
1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.-27-644_-27-643ins others(53): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr21 | 46110777 | ||||||
chr21:46110777 | A | G | 2 | a0001c0007t0003g0246 a0001c0025t0001g0234 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.-27-673A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46110777 | |||||||
chr21:46111076 | T | C | 283 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(280): Show |
305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.-27-374T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111076 | |||||||
chr21:46111154 | C | T | 1 | a0001c0007t0001g0301 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.-27-296C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111154 | |||||||
chr21:46111164 | C | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-286C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111164 | |||||||
chr21:46111165 | A | G | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.-27-285A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111165 | |||||||
chr21:46111185 | G | T | 4 | a0001c0002t0002g0124 a0001c0004t0001g0009 a0001c0004t0001g0161 others(1): Show |
5 | HG00323.hp1 HG00741.hp1 HG01168.hp2 others(2): Show |
intron_variant | MODIFIER | c.-27-265G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111185 | |||||||
chr21:46111207 | C | A | 6 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(3): Show |
6 | HG02559.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.-27-243C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111207 | |||||||
chr21:46111272 | C | T | 1 | a0002c0003t0001g0091 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.-27-178C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111272 | |||||||
chr21:46111301 | C | T | 125 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(122): Show |
132 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(129): Show |
intron_variant | MODIFIER | c.-27-149C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111301 | |||||||
chr21:46111302 | G | A | 3 | a0001c0002t0002g0016 a0001c0043t0002g0284 a0011c0066t0002g0282 |
4 | HG02040.hp2 NA18964.hp2 NA18989.hp1 others(1): Show |
intron_variant | MODIFIER | c.-27-148G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111302 | |||||||
chr21:46111316 | G | A | 3 | a0001c0022t0001g0235 a0001c0022t0001g0253 a0001c0025t0001g0231 |
3 | HG01243.hp2 HG02280.hp1 NA21309.hp2 |
intron_variant | MODIFIER | c.-27-134G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111316 | |||||||
chr21:46111316 | G | C | 1 | a0009c0059t0001g0094 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.-27-134G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111316 | |||||||
chr21:46111361 | G | A | 3 | a0001c0015t0002g0259 a0001c0015t0002g0324 a0001c0015t0002g0325 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.-27-89G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111361 | |||||||
chr21:46111409 | A | C | 2 | a0001c0001t0001g0160 a0001c0001t0001g0180 |
2 | NA18941.hp1 NA19055.hp1 |
intron_variant | MODIFIER | c.-27-41A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1/27 | chr21 | 46111409 | |||||||
chr21:46111586 | GCCCAGGT others(55): Show |
G | 148 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.116-190_116-129del others(62): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111586 | ||||||
chr21:46111586 | GCCCAGGT others(117): Show |
G | 79 | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0002t0001g0320 others(76): Show |
92 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(89): Show |
intron_variant | MODIFIER | c.115+136_116-129del | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111586 | ||||||
chr21:46111673 | GGGGGCTC others(116): Show |
G | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.115+87_116-179del | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111673 | ||||||
chr21:46111728 | GGGGGCCG others(54): Show |
G | 1 | a0013c0052t0001g0159 | 1 | NA19083.hp2 | intron_variant | MODIFIER | c.115+142_116-186del others(61): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr21 | 46111728 | ||||||
chr21:46111734 | C | T | 1 | a0001c0022t0001g0253 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.115+143C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111734 | |||||||
chr21:46111765 | G | T | 2 | a0001c0024t0002g0005 a0001c0024t0002g0318 |
2 | NA19055.hp2 NA19088.hp2 |
intron_variant | MODIFIER | c.115+174G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111765 | |||||||
chr21:46111859 | G | A | 1 | a0002c0003t0001g0078 | 1 | NA19070.hp1 | intron_variant | MODIFIER | c.116-120G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111859 | |||||||
chr21:46111863 | G | A | 1 | a0001c0001t0001g0115 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.116-116G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111863 | |||||||
chr21:46111945 | G | A | 4 | a0001c0001t0006g0133 a0001c0021t0006g0144 a0001c0021t0006g0175 others(1): Show |
4 | HG01069.hp1 HG01071.hp2 HG01516.hp2 others(1): Show |
intron_variant | MODIFIER | c.116-34G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 2/27 | chr21 | 46111945 | |||||||
chr21:46112586 | C | T | 8 | a0001c0004t0001g0008 a0001c0004t0001g0038 a0001c0004t0001g0105 others(5): Show |
9 | HG00280.hp2 HG01123.hp2 HG01256.hp2 others(6): Show |
intron_variant | MODIFIER | c.714+9C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112586 | |||||||
chr21:46112593 | G | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.714+16G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112593 | |||||||
chr21:46112594 | A | G | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.714+17A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112594 | |||||||
chr21:46112606 | G | A | 11 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0005g0059 others(8): Show |
11 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(8): Show |
intron_variant | MODIFIER | c.714+29G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112606 | |||||||
chr21:46112622 | C | T | 81 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(78): Show |
94 | HG00423.hp1 HG00544.hp2 HG00639.hp2 others(91): Show |
intron_variant | MODIFIER | c.714+45C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112622 | |||||||
chr21:46112630 | C | T | 123 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(120): Show |
130 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(127): Show |
intron_variant | MODIFIER | c.714+53C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112630 | |||||||
chr21:46112639 | A | G | 7 | a0001c0004t0001g0260 a0001c0009t0001g0022 a0001c0009t0001g0252 others(4): Show |
8 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(5): Show |
intron_variant | MODIFIER | c.714+62A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112639 | |||||||
chr21:46112679 | G | A | 12 | a0001c0004t0001g0161 a0001c0007t0003g0245 a0001c0007t0003g0246 others(9): Show |
12 | HG01168.hp2 HG01261.hp2 HG01891.hp1 others(9): Show |
intron_variant | MODIFIER | c.714+102G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112679 | |||||||
chr21:46112725 | C | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.715-79C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112725 | |||||||
chr21:46112726 | A | T | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.715-78A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 3/27 | chr21 | 46112726 | |||||||
chr21:46112884 | G | A | 1 | a0001c0007t0001g0301 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.735+60G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46112884 | |||||||
chr21:46113018 | C | T | 1 | a0001c0035t0001g0053 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.735+194C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113018 | |||||||
chr21:46113245 | C | T | 3 | a0001c0001t0006g0133 a0001c0021t0006g0144 a0001c0021t0006g0175 |
3 | HG01069.hp1 HG01071.hp2 HG02683.hp2 |
intron_variant | MODIFIER | c.735+421C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113245 | |||||||
chr21:46113246 | G | A | 3 | a0003c0010t0001g0188 a0003c0010t0001g0189 a0003c0010t0001g0195 |
3 | HG02145.hp2 HG02615.hp1 HG02717.hp2 |
intron_variant | MODIFIER | c.735+422G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113246 | |||||||
chr21:46113250 | G | T | 1 | a0003c0008t0003g0051 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.735+426G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113250 | |||||||
chr21:46113265 | C | A | 2 | a0001c0015t0002g0324 a0001c0015t0002g0325 |
2 | HG01884.hp2 HG02258.hp2 |
intron_variant | MODIFIER | c.735+441C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113265 | |||||||
chr21:46113312 | G | A | 6 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(3): Show |
6 | HG02559.hp1 HG02615.hp2 HG02976.hp1 others(3): Show |
intron_variant | MODIFIER | c.735+488G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113312 | |||||||
chr21:46113375 | CTTTTA | C | 3 | a0003c0010t0001g0206 a0003c0010t0001g0208 a0003c0063t0001g0047 |
3 | HG02723.hp2 HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.735+553_735+557del others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr21 | 46113375 | ||||||
chr21:46113587 | G | A | 7 | a0003c0008t0003g0045 a0003c0008t0003g0051 a0003c0008t0003g0190 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.736-421G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113587 | |||||||
chr21:46113719 | G | A | 1 | a0001c0009t0001g0261 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.736-289G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113719 | |||||||
chr21:46113783 | G | A | 1 | a0001c0004t0001g0185 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.736-225G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113783 | |||||||
chr21:46113798 | A | C | 1 | a0002c0003t0001g0027 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.736-210A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113798 | |||||||
chr21:46113844 | AC | A | 30 | a0003c0010t0001g0188 a0003c0010t0001g0189 a0003c0010t0001g0195 others(27): Show |
30 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(27): Show |
intron_variant | MODIFIER | c.736-160delC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr21 | 46113844 | ||||||
chr21:46113872 | C | T | 1 | a0001c0001t0001g0062 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.736-136C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 4/27 | chr21 | 46113872 | |||||||
chr21:46114109 | C | T | 1 | a0001c0001t0001g0123 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.801+36C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114109 | |||||||
chr21:46114130 | T | C | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.801+57T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114130 | |||||||
chr21:46114153 | G | A | 1 | a0004c0005t0004g0048 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.801+80G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114153 | |||||||
chr21:46114230 | T | G | 1 | a0001c0002t0002g0285 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.801+157T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114230 | |||||||
chr21:46114282 | G | A | 3 | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0181 |
3 | HG00733.hp2 HG01169.hp2 HG01175.hp1 |
intron_variant | MODIFIER | c.801+209G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114282 | |||||||
chr21:46114283 | G | C | 1 | a0002c0003t0001g0069 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.801+210G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114283 | |||||||
chr21:46114288 | A | G | 1 | a0001c0019t0001g0331 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+215A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114288 | |||||||
chr21:46114295 | T | C | 1 | a0001c0019t0001g0331 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+222T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114295 | |||||||
chr21:46114296 | G | A | 1 | a0001c0019t0001g0331 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+223G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114296 | |||||||
chr21:46114297 | C | T | 1 | a0001c0019t0001g0331 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.801+224C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114297 | |||||||
chr21:46114398 | C | G | 3 | a0002c0003t0001g0031 a0002c0003t0001g0083 a0002c0003t0001g0090 |
3 | HG00099.hp1 HG01255.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.801+325C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114398 | |||||||
chr21:46114424 | C | CA | 10 | a0001c0002t0002g0286 a0001c0009t0001g0022 a0001c0009t0001g0252 others(7): Show |
11 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(8): Show |
intron_variant | MODIFIER | c.801+367dupA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr21 | 46114424 | ||||||
chr21:46114424 | CA | C | 12 | a0001c0001t0001g0106 a0001c0001t0001g0135 a0001c0002t0002g0327 others(9): Show |
12 | HG00140.hp1 HG00323.hp2 HG01256.hp1 others(9): Show |
intron_variant | MODIFIER | c.801+367delA | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | INFO_REALIGN_3_PRIME | chr21 | 46114424 | ||||||
chr21:46114471 | A | G | 1 | a0004c0005t0004g0212 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.801+398A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114471 | |||||||
chr21:46114503 | A | G | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+430A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114503 | |||||||
chr21:46114504 | G | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+431G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114504 | |||||||
chr21:46114521 | T | C | 1 | a0003c0016t0001g0230 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.801+448T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114521 | |||||||
chr21:46114522 | G | C | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+449G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114522 | |||||||
chr21:46114524 | C | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+451C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114524 | |||||||
chr21:46114546 | T | C | 11 | a0003c0010t0001g0309 a0003c0010t0002g0323 a0003c0064t0001g0194 others(8): Show |
11 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(8): Show |
intron_variant | MODIFIER | c.801+473T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114546 | |||||||
chr21:46114592 | A | G | 3 | a0002c0013t0001g0218 a0002c0055t0001g0049 a0010c0057t0001g0220 |
3 | HG02083.hp2 HG03710.hp1 HG04115.hp2 |
intron_variant | MODIFIER | c.801+519A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114592 | |||||||
chr21:46114703 | G | A | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+630G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114703 | |||||||
chr21:46114704 | T | G | 1 | a0011c0066t0002g0282 | 1 | NA18989.hp1 | intron_variant | MODIFIER | c.801+631T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114704 | |||||||
chr21:46114826 | C | T | 3 | a0001c0011t0001g0112 a0001c0011t0001g0121 a0001c0011t0001g0122 |
3 | HG01891.hp2 HG03209.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.801+753C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46114826 | |||||||
chr21:46115054 | G | A | 1 | a0001c0026t0005g0232 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.802-818G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115054 | |||||||
chr21:46115151 | G | C | 15 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(12): Show |
15 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.802-721G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115151 | |||||||
chr21:46115266 | C | T | 22 | a0003c0010t0001g0206 a0003c0010t0001g0208 a0003c0010t0001g0309 others(19): Show |
22 | HG00438.hp2 HG00639.hp1 HG00673.hp2 others(19): Show |
intron_variant | MODIFIER | c.802-606C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115266 | |||||||
chr21:46115334 | C | T | 227 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(224): Show |
249 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(246): Show |
intron_variant | MODIFIER | c.802-538C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115334 | |||||||
chr21:46115523 | C | T | 1 | a0001c0001t0001g0158 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.802-349C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115523 | |||||||
chr21:46115528 | G | C | 1 | a0001c0025t0001g0231 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.802-344G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115528 | |||||||
chr21:46115596 | C | T | 1 | a0002c0003t0001g0089 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.802-276C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115596 | |||||||
chr21:46115622 | T | G | 242 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(239): Show |
264 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
intron_variant | MODIFIER | c.802-250T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115622 | |||||||
chr21:46115788 | C | T | 1 | a0001c0015t0002g0259 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.802-84C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115788 | |||||||
chr21:46115842 | G | A | 3 | a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 |
3 | HG02886.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.802-30G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 5/27 | chr21 | 46115842 | |||||||
chr21:46116113 | C | T | 1 | a0001c0006t0001g0305 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.900+60C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116113 | |||||||
chr21:46116252 | G | A | 14 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(11): Show |
14 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.901-125G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116252 | |||||||
chr21:46116266 | C | T | 72 | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0002t0001g0320 others(69): Show |
85 | HG00423.hp1 HG00544.hp2 HG00673.hp1 others(82): Show |
intron_variant | MODIFIER | c.901-111C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116266 | |||||||
chr21:46116295 | C | T | 5 | a0006c0028t0001g0097 a0006c0028t0001g0098 a0006c0056t0001g0099 others(2): Show |
5 | HG02109.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.901-82C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 7/27 | chr21 | 46116295 | |||||||
chr21:46116474 | C | T | 3 | a0001c0002t0002g0299 a0001c0002t0002g0300 a0001c0002t0002g0304 |
3 | NA18975.hp1 NA19012.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.927+71C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 8/27 | chr21 | 46116474 | |||||||
chr21:46116522 | G | A | 1 | a0001c0002t0002g0279 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.927+119G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 8/27 | chr21 | 46116522 | |||||||
chr21:46116632 | C | T | 133 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(130): Show |
140 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.928-19C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 8/27 | chr21 | 46116632 | |||||||
chr21:46116693 | A | C | 1 | a0002c0003t0001g0055 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.954+16A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 9/27 | chr21 | 46116693 | |||||||
chr21:46116885 | A | T | 3 | a0002c0003t0001g0031 a0002c0003t0001g0083 a0002c0003t0001g0090 |
3 | HG00099.hp1 HG01255.hp2 HG02071.hp2 |
intron_variant | MODIFIER | c.999+71A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46116885 | |||||||
chr21:46116926 | T | TAC | 46 | a0001c0001t0001g0145 a0001c0001t0001g0181 a0001c0002t0002g0254 others(43): Show |
46 | HG00323.hp2 HG00438.hp2 HG00639.hp1 others(43): Show |
intron_variant | MODIFIER | c.999+141_999+142dup others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACAC | 133 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(130): Show |
138 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(135): Show |
intron_variant | MODIFIER | c.999+139_999+142dup others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACAC | 18 | a0001c0001t0001g0012 a0001c0001t0001g0117 a0001c0001t0001g0147 others(15): Show |
21 | HG00323.hp1 HG00558.hp1 HG00609.hp1 others(18): Show |
intron_variant | MODIFIER | c.999+137_999+142dup others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(1): Show |
4 | a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0007t0003g0245 others(1): Show |
4 | HG02897.hp2 HG02976.hp1 NA18612.hp1 others(1): Show |
intron_variant | MODIFIER | c.999+135_999+142dup others(8): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(3): Show |
11 | a0001c0007t0005g0059 a0001c0007t0005g0064 a0001c0007t0005g0065 others(8): Show |
12 | HG00423.hp2 HG01516.hp1 HG01517.hp2 others(9): Show |
intron_variant | MODIFIER | c.999+133_999+142dup others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(5): Show |
6 | a0001c0007t0005g0063 a0003c0008t0003g0045 a0003c0008t0003g0051 others(3): Show |
6 | HG00597.hp1 HG02559.hp1 NA18941.hp2 others(3): Show |
intron_variant | MODIFIER | c.999+131_999+142dup others(12): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | T | TACACACA others(9): Show |
1 | a0001c0001t0001g0136 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.999+127_999+142dup others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | TAC | T | 58 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0005 others(55): Show |
70 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(67): Show |
intron_variant | MODIFIER | c.999+141_999+142del others(2): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | TACAC | T | 4 | a0001c0002t0002g0285 a0001c0002t0002g0316 a0003c0032t0001g0239 others(1): Show |
4 | HG02723.hp1 HG02818.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.999+139_999+142del others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46116926 | TACACACA others(11): Show |
T | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.999+125_999+142del others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr21 | 46116926 | ||||||
chr21:46117130 | G | A | 1 | a0001c0004t0001g0260 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.1000-270G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117130 | |||||||
chr21:46117196 | G | A | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1000-204G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117196 | |||||||
chr21:46117232 | C | T | 15 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(12): Show |
15 | HG01261.hp2 HG01891.hp1 HG02559.hp1 others(12): Show |
intron_variant | MODIFIER | c.1000-168C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117232 | |||||||
chr21:46117235 | C | T | 1 | a0004c0005t0004g0202 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1000-165C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117235 | |||||||
chr21:46117295 | G | A | 1 | a0004c0005t0004g0205 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1000-105G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117295 | |||||||
chr21:46117308 | G | A | 4 | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0106 others(1): Show |
5 | HG00140.hp1 HG01069.hp2 HG01106.hp2 others(2): Show |
intron_variant | MODIFIER | c.1000-92G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 10/27 | chr21 | 46117308 | |||||||
chr21:46117511 | C | T | 11 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(8): Show |
11 | HG01261.hp2 HG01891.hp1 HG02559.hp2 others(8): Show |
intron_variant | MODIFIER | c.1053+58C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117511 | |||||||
chr21:46117545 | G | A | 3 | a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0322 |
3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1053+92G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117545 | |||||||
chr21:46117558 | GCAGCCCA others(7): Show |
G | 2 | a0001c0002t0002g0269 a0001c0049t0001g0157 |
2 | HG02698.hp2 NA18955.hp2 |
intron_variant | MODIFIER | c.1053+130_1053+143d others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr21 | 46117558 | ||||||
chr21:46117646 | G | A | 15 | a0001c0002t0001g0320 a0001c0002t0002g0124 a0001c0002t0002g0254 others(12): Show |
15 | HG00673.hp1 HG00735.hp1 HG00741.hp1 others(12): Show |
intron_variant | MODIFIER | c.1053+193G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117646 | |||||||
chr21:46117752 | T | TG | 284 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(281): Show |
306 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
intron_variant | MODIFIER | c.1054-119dupG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr21 | 46117752 | ||||||
chr21:46117774 | A | C | 3 | a0001c0015t0002g0259 a0001c0015t0002g0324 a0001c0015t0002g0325 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1054-100A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 11/27 | chr21 | 46117774 | |||||||
chr21:46117942 | T | G | 1 | a0001c0004t0001g0132 | 1 | NA20129.hp1 | splice_region_variant&intron_variant | LOW | c.1116+6T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117942 | |||||||
chr21:46117958 | C | T | 5 | a0006c0028t0001g0097 a0006c0028t0001g0098 a0006c0056t0001g0099 others(2): Show |
5 | HG02109.hp1 HG02647.hp2 HG02717.hp1 others(2): Show |
intron_variant | MODIFIER | c.1116+22C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117958 | |||||||
chr21:46117968 | G | A | 146 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(143): Show |
153 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.1116+32G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117968 | |||||||
chr21:46117975 | C | T | 1 | a0003c0064t0001g0194 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.1116+39C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46117975 | |||||||
chr21:46118030 | G | A | 3 | a0006c0028t0001g0097 a0006c0028t0001g0098 a0006c0056t0001g0099 |
3 | HG02109.hp1 HG02647.hp2 HG03540.hp2 |
intron_variant | MODIFIER | c.1116+94G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118030 | |||||||
chr21:46118059 | G | A | 2 | a0001c0001t0001g0108 a0001c0001t0001g0123 |
2 | HG02622.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.1116+123G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118059 | |||||||
chr21:46118086 | G | A | 1 | a0001c0002t0002g0017 | 2 | NA18971.hp2 NA19012.hp1 |
intron_variant | MODIFIER | c.1116+150G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118086 | |||||||
chr21:46118136 | G | A | 258 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(255): Show |
280 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(277): Show |
intron_variant | MODIFIER | c.1116+200G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118136 | |||||||
chr21:46118157 | G | A | 234 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(231): Show |
256 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
intron_variant | MODIFIER | c.1116+221G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118157 | |||||||
chr21:46118196 | G | A | 1 | a0001c0002t0002g0292 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.1116+260G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118196 | |||||||
chr21:46118232 | G | A | 1 | a0001c0002t0002g0289 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.1116+296G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118232 | |||||||
chr21:46118281 | C | T | 1 | a0002c0003t0001g0060 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.1117-333C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118281 | |||||||
chr21:46118282 | G | A | 1 | a0004c0005t0004g0202 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.1117-332G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118282 | |||||||
chr21:46118335 | G | A | 7 | a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0123 others(4): Show |
7 | HG00733.hp2 HG01169.hp2 HG01175.hp1 others(4): Show |
intron_variant | MODIFIER | c.1117-279G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118335 | |||||||
chr21:46118396 | A | T | 285 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(282): Show |
307 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
intron_variant | MODIFIER | c.1117-218A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118396 | |||||||
chr21:46118410 | C | T | 24 | a0003c0010t0001g0188 a0003c0010t0001g0189 a0003c0010t0001g0195 others(21): Show |
24 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(21): Show |
intron_variant | MODIFIER | c.1117-204C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118410 | |||||||
chr21:46118411 | G | A | 6 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(3): Show |
6 | HG01261.hp2 HG02559.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.1117-203G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118411 | |||||||
chr21:46118525 | C | T | 9 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0051 others(6): Show |
9 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(6): Show |
intron_variant | MODIFIER | c.1117-89C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118525 | |||||||
chr21:46118530 | C | T | 1 | a0002c0003t0001g0080 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1117-84C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118530 | |||||||
chr21:46118558 | C | G | 3 | a0001c0015t0002g0259 a0001c0015t0002g0324 a0001c0015t0002g0325 |
3 | HG01884.hp2 HG01978.hp1 HG02258.hp2 |
intron_variant | MODIFIER | c.1117-56C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | chr21 | 46118558 | |||||||
chr21:46118564 | C | CCCCCTTC others(13): Show |
1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1117-48_1117-29dup others(20): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr21 | 46118564 | ||||||
chr21:46118707 | G | A | 1 | a0004c0005t0001g0210 | 1 | NA18969.hp2 | intron_variant | MODIFIER | c.1179+31G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118707 | |||||||
chr21:46118758 | C | T | 1 | a0002c0012t0007g0074 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1179+82C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118758 | |||||||
chr21:46118777 | G | T | 121 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(118): Show |
136 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(133): Show |
intron_variant | MODIFIER | c.1179+101G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118777 | |||||||
chr21:46118971 | C | T | 1 | a0001c0001t0001g0114 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1180-59C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118971 | |||||||
chr21:46118972 | G | A | 1 | a0001c0048t0001g0143 | 1 | HG01516.hp2 | intron_variant | MODIFIER | c.1180-58G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 13/27 | chr21 | 46118972 | |||||||
chr21:46119151 | C | T | 6 | a0001c0011t0001g0107 a0001c0011t0001g0112 a0001c0011t0001g0116 others(3): Show |
6 | HG01257.hp1 HG01258.hp2 HG01891.hp2 others(3): Show |
intron_variant | MODIFIER | c.1269+32C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119151 | |||||||
chr21:46119212 | G | A | 1 | a0002c0003t0001g0086 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1269+93G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119212 | |||||||
chr21:46119293 | A | C | 3 | a0002c0003t0001g0225 a0002c0003t0001g0226 a0002c0062t0001g0227 |
3 | HG02809.hp1 HG02818.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.1269+174A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119293 | |||||||
chr21:46119332 | T | C | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1269+213T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119332 | |||||||
chr21:46119392 | C | T | 2 | a0001c0002t0002g0124 a0001c0002t0002g0291 |
2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.1269+273C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119392 | |||||||
chr21:46119455 | G | A | 1 | a0012c0051t0001g0224 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1270-333G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119455 | |||||||
chr21:46119566 | C | T | 1 | a0001c0007t0005g0063 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.1270-222C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119566 | |||||||
chr21:46119598 | G | A | 1 | a0003c0016t0001g0230 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.1270-190G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119598 | |||||||
chr21:46119619 | T | C | 125 | a0001c0001t0001g0050 a0001c0001t0001g0109 a0001c0001t0001g0149 others(122): Show |
140 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(137): Show |
intron_variant | MODIFIER | c.1270-169T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119619 | |||||||
chr21:46119644 | G | C | 2 | a0001c0018t0001g0168 a0001c0018t0001g0186 |
2 | HG03490.hp2 HG03492.hp1 |
intron_variant | MODIFIER | c.1270-144G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 14/27 | chr21 | 46119644 | |||||||
chr21:46119876 | A | G | 286 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(283): Show |
308 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
intron_variant | MODIFIER | c.1332+26A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119876 | |||||||
chr21:46119897 | T | C | 1 | a0002c0061t0001g0067 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.1332+47T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119897 | |||||||
chr21:46119970 | A | C | 9 | a0001c0001t0001g0037 a0001c0001t0001g0108 a0001c0001t0001g0123 others(6): Show |
9 | HG00733.hp2 HG01169.hp2 HG01175.hp1 others(6): Show |
intron_variant | MODIFIER | c.1332+120A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119970 | |||||||
chr21:46119982 | G | A | 1 | a0002c0003t0001g0027 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.1332+132G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46119982 | |||||||
chr21:46120064 | G | T | 1 | a0001c0002t0002g0298 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1332+214G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120064 | |||||||
chr21:46120093 | G | C | 1 | a0001c0049t0001g0157 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1332+243G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120093 | |||||||
chr21:46120094 | G | C | 1 | a0001c0049t0001g0157 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1332+244G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120094 | |||||||
chr21:46120109 | A | G | 7 | a0001c0049t0001g0157 a0003c0008t0003g0045 a0003c0008t0003g0051 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 HG02698.hp2 others(4): Show |
intron_variant | MODIFIER | c.1332+259A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120109 | |||||||
chr21:46120121 | C | G | 140 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0044 others(137): Show |
156 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.1332+271C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120121 | |||||||
chr21:46120122 | GGCC | G | 139 | a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0044 others(136): Show |
155 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.1332+273_1332+275d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120122 | |||||||
chr21:46120123 | G | C | 1 | a0001c0006t0001g0187 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1332+273G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120123 | |||||||
chr21:46120125 | C | CACTGAGG others(78): Show |
1 | a0001c0006t0001g0187 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1332+275_1332+276i others(87): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120125 | |||||||
chr21:46120125 | C | CCCACTGA others(50): Show |
1 | a0001c0001t0001g0111 | 1 | NA18948.hp2 | intron_variant | MODIFIER | c.1332+277_1332+278i others(59): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120125 | C | CCCCACTG others(21): Show |
2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1332+289_1332+290i others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120125 | C | CCCCACTG others(51): Show |
8 | a0001c0004t0001g0247 a0001c0044t0003g0196 a0003c0008t0003g0046 others(5): Show |
9 | HG01243.hp1 HG01516.hp1 HG01517.hp2 others(6): Show |
intron_variant | MODIFIER | c.1332+289_1332+290i others(60): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120125 | C | CCCCACTG others(50): Show |
105 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(102): Show |
110 | HG00280.hp2 HG00438.hp2 HG00558.hp1 others(107): Show |
intron_variant | MODIFIER | c.1332+285_1332+286i others(59): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120125 | ||||||
chr21:46120136 | C | T | 30 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0062 others(27): Show |
31 | HG00323.hp1 HG00558.hp2 HG01074.hp1 others(28): Show |
intron_variant | MODIFIER | c.1332+286C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120136 | |||||||
chr21:46120140 | T | G | 22 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0062 others(19): Show |
23 | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.1332+290T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120140 | |||||||
chr21:46120143 | T | C | 22 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0062 others(19): Show |
23 | HG00323.hp1 HG01074.hp1 HG01109.hp1 others(20): Show |
intron_variant | MODIFIER | c.1332+293T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120143 | |||||||
chr21:46120144 | A | AC | 11 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0062 others(8): Show |
12 | HG00323.hp1 HG01168.hp2 HG01255.hp1 others(9): Show |
intron_variant | MODIFIER | c.1332+299dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120144 | ||||||
chr21:46120151 | G | GCC | 10 | a0001c0001t0001g0010 a0001c0001t0001g0050 a0001c0001t0001g0062 others(7): Show |
11 | HG00323.hp1 HG01168.hp2 HG01255.hp1 others(8): Show |
intron_variant | MODIFIER | c.1332+303_1332+304d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr21 | 46120151 | ||||||
chr21:46120164 | T | C | 1 | a0001c0004t0001g0173 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.1332+314T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120164 | |||||||
chr21:46120185 | G | T | 1 | a0002c0013t0001g0218 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.1333-330G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120185 | |||||||
chr21:46120251 | G | A | 26 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(23): Show |
26 | HG00639.hp2 HG01261.hp2 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.1333-264G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120251 | |||||||
chr21:46120272 | C | T | 130 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(127): Show |
137 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(134): Show |
intron_variant | MODIFIER | c.1333-243C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120272 | |||||||
chr21:46120273 | G | A | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1333-242G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120273 | |||||||
chr21:46120286 | C | T | 213 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(210): Show |
234 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(231): Show |
intron_variant | MODIFIER | c.1333-229C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120286 | |||||||
chr21:46120295 | G | A | 2 | a0001c0001t0001g0117 a0001c0001t0001g0152 |
2 | NA18951.hp2 NA19060.hp1 |
intron_variant | MODIFIER | c.1333-220G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120295 | |||||||
chr21:46120317 | A | C | 302 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(299): Show |
324 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
intron_variant | MODIFIER | c.1333-198A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120317 | |||||||
chr21:46120320 | G | T | 2 | a0001c0026t0005g0232 a0001c0026t0005g0233 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1333-195G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120320 | |||||||
chr21:46120346 | C | T | 127 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(124): Show |
134 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(131): Show |
intron_variant | MODIFIER | c.1333-169C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120346 | |||||||
chr21:46120347 | G | A | 2 | a0002c0003t0001g0057 a0002c0003t0001g0081 |
2 | HG03669.hp1 HG03704.hp1 |
intron_variant | MODIFIER | c.1333-168G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120347 | |||||||
chr21:46120383 | G | A | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1333-132G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120383 | |||||||
chr21:46120435 | C | T | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1333-80C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120435 | |||||||
chr21:46120507 | T | C | 94 | a0001c0001t0001g0169 a0001c0001t0001g0183 a0001c0002t0001g0320 others(91): Show |
109 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(106): Show |
splice_region_variant&intron_variant | LOW | c.1333-8T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 15/27 | chr21 | 46120507 | |||||||
chr21:46120635 | GCTGCACC others(20): Show |
G | 2 | a0003c0010t0001g0189 a0003c0016t0001g0230 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.1395+77_1395+103de others(28): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr21 | 46120635 | ||||||
chr21:46120659 | G | A | 99 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(96): Show |
104 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(101): Show |
intron_variant | MODIFIER | c.1395+82G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120659 | |||||||
chr21:46120662 | ACTGCACC others(25): Show |
A | 2 | a0001c0023t0001g0249 a0001c0023t0001g0250 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1395+101_1395+132d others(34): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr21 | 46120662 | ||||||
chr21:46120746 | G | A | 1 | a0001c0001t0001g0101 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.1395+169G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120746 | |||||||
chr21:46120811 | G | A | 133 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(130): Show |
140 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.1395+234G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120811 | |||||||
chr21:46120928 | G | C | 21 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1396-133G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120928 | |||||||
chr21:46120958 | C | T | 4 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(1): Show |
4 | HG02559.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.1396-103C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120958 | |||||||
chr21:46120971 | A | C | 2 | a0001c0001t0001g0043 a0001c0001t0001g0111 |
2 | NA18948.hp2 NA18966.hp1 |
intron_variant | MODIFIER | c.1396-90A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120971 | |||||||
chr21:46120999 | C | T | 2 | a0001c0023t0001g0249 a0001c0023t0001g0250 |
2 | HG02630.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.1396-62C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 16/27 | chr21 | 46120999 | |||||||
chr21:46121192 | C | T | 1 | a0002c0055t0001g0049 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1458+69C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121192 | |||||||
chr21:46121205 | G | A | 1 | a0004c0005t0001g0203 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.1458+82G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121205 | |||||||
chr21:46121348 | G | A | 1 | a0001c0002t0002g0268 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.1459-208G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121348 | |||||||
chr21:46121379 | C | T | 1 | a0001c0007t0001g0301 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1459-177C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121379 | |||||||
chr21:46121388 | A | G | 22 | a0001c0004t0001g0173 a0001c0009t0001g0022 a0001c0009t0001g0252 others(19): Show |
24 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1459-168A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121388 | |||||||
chr21:46121393 | G | A | 1 | a0001c0025t0001g0231 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1459-163G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121393 | |||||||
chr21:46121450 | C | T | 1 | a0012c0051t0001g0224 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.1459-106C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121450 | |||||||
chr21:46121480 | C | T | 1 | a0001c0047t0001g0244 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.1459-76C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 17/27 | chr21 | 46121480 | |||||||
chr21:46121639 | A | G | 21 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1521+21A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121639 | |||||||
chr21:46121653 | G | A | 1 | a0001c0001t0001g0178 | 1 | NA18988.hp1 | intron_variant | MODIFIER | c.1521+35G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121653 | |||||||
chr21:46121775 | C | T | 1 | a0001c0001t0001g0156 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1521+157C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121775 | |||||||
chr21:46121790 | C | A | 1 | a0001c0025t0001g0231 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.1521+172C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121790 | |||||||
chr21:46121829 | C | T | 1 | a0002c0012t0001g0025 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1521+211C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121829 | |||||||
chr21:46121893 | G | A | 2 | a0001c0026t0005g0232 a0001c0026t0005g0233 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1522-215G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121893 | |||||||
chr21:46121909 | C | CT | 49 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(46): Show |
51 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(48): Show |
intron_variant | MODIFIER | c.1522-199_1522-198i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121909 | |||||||
chr21:46121972 | C | T | 1 | a0001c0002t0002g0298 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.1522-136C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46121972 | |||||||
chr21:46122072 | T | C | 25 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(22): Show |
27 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(24): Show |
intron_variant | MODIFIER | c.1522-36T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 18/27 | chr21 | 46122072 | |||||||
chr21:46122183 | C | T | 1 | a0001c0001t0001g0050 | 1 | NA19003.hp1 | intron_variant | MODIFIER | c.1572+25C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122183 | |||||||
chr21:46122306 | C | T | 133 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(130): Show |
140 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(137): Show |
intron_variant | MODIFIER | c.1572+148C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122306 | |||||||
chr21:46122384 | C | T | 1 | a0001c0001t0001g0136 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1573-112C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122384 | |||||||
chr21:46122385 | C | G | 1 | a0001c0001t0001g0136 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.1573-111C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122385 | |||||||
chr21:46122425 | A | C | 1 | a0006c0056t0001g0099 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.1573-71A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122425 | |||||||
chr21:46122464 | C | T | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1573-32C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 19/27 | chr21 | 46122464 | |||||||
chr21:46122703 | C | G | 2 | a0001c0022t0001g0235 a0001c0022t0001g0253 |
2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.1608+172C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122703 | |||||||
chr21:46122712 | G | A | 15 | a0003c0010t0001g0206 a0003c0010t0001g0208 a0003c0064t0001g0194 others(12): Show |
15 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(12): Show |
intron_variant | MODIFIER | c.1609-163G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122712 | |||||||
chr21:46122713 | TCCCTTTT others(16): Show |
T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1609-161_1609-139d others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122713 | |||||||
chr21:46122720 | T | C | 21 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1609-155T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122720 | |||||||
chr21:46122740 | G | GC | 337 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(334): Show |
360 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(357): Show |
intron_variant | MODIFIER | c.1609-134dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr21 | 46122740 | ||||||
chr21:46122759 | G | T | 1 | a0002c0003t0001g0086 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1609-116G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122759 | |||||||
chr21:46122760 | C | T | 1 | a0002c0003t0001g0086 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.1609-115C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122760 | |||||||
chr21:46122770 | A | G | 1 | a0002c0003t0001g0076 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.1609-105A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122770 | |||||||
chr21:46122822 | C | T | 3 | a0001c0002t0002g0021 a0001c0002t0002g0315 a0001c0002t0002g0317 |
4 | NA18943.hp1 NA18965.hp2 NA19065.hp1 others(1): Show |
intron_variant | MODIFIER | c.1609-53C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122822 | |||||||
chr21:46122839 | C | T | 1 | a0001c0002t0008g0019 | 2 | HG03491.hp1 HG03492.hp2 |
intron_variant | MODIFIER | c.1609-36C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122839 | |||||||
chr21:46122865 | C | T | 21 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1609-10C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 20/27 | chr21 | 46122865 | |||||||
chr21:46122947 | A | G | 302 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(299): Show |
324 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
intron_variant | MODIFIER | c.1671+10A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46122947 | |||||||
chr21:46122955 | G | A | 1 | a0001c0002t0002g0319 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.1671+18G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46122955 | |||||||
chr21:46123117 | C | T | 30 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(27): Show |
30 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.1671+180C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123117 | |||||||
chr21:46123129 | G | A | 1 | a0002c0003t0001g0061 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.1671+192G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123129 | |||||||
chr21:46123177 | AAGGGTCC others(72): Show |
A | 30 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(27): Show |
30 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.1671+254_1671+332d others(81): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123177 | ||||||
chr21:46123273 | C | T | 1 | a0002c0055t0001g0049 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.1671+336C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123273 | |||||||
chr21:46123290 | C | A | 30 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(27): Show |
30 | HG00639.hp2 HG01261.hp2 HG01884.hp1 others(27): Show |
intron_variant | MODIFIER | c.1671+353C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123290 | |||||||
chr21:46123372 | T | C | 285 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(282): Show |
306 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(303): Show |
intron_variant | MODIFIER | c.1671+435T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123372 | |||||||
chr21:46123382 | A | G | 1 | a0001c0015t0002g0259 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.1671+445A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123382 | |||||||
chr21:46123465 | G | A | 2 | a0001c0021t0006g0144 a0001c0021t0006g0175 |
2 | HG01069.hp1 HG01071.hp2 |
intron_variant | MODIFIER | c.1671+528G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123465 | |||||||
chr21:46123534 | G | A | 3 | a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0180 |
3 | NA18941.hp1 NA18983.hp2 NA19055.hp1 |
intron_variant | MODIFIER | c.1671+597G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123534 | |||||||
chr21:46123544 | TGGATGGG others(1): Show |
T | 2 | a0003c0008t0003g0046 a0008c0027t0003g0015 |
3 | HG01516.hp1 HG01517.hp2 HG03239.hp2 |
intron_variant | MODIFIER | c.1671+615_1671+622d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123544 | ||||||
chr21:46123628 | A | AGTGG | 21 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1671+700_1671+703d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123628 | ||||||
chr21:46123655 | A | ACATGGGT others(4): Show |
1 | a0001c0002t0002g0275 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.1671+719_1671+729d others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123655 | ||||||
chr21:46123692 | G | A | 4 | a0002c0003t0001g0072 a0003c0010t0001g0189 a0003c0016t0001g0230 others(1): Show |
4 | HG02615.hp1 HG02922.hp1 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.1671+755G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123692 | |||||||
chr21:46123695 | A | G | 283 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(280): Show |
305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.1671+758A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123695 | |||||||
chr21:46123697 | G | A | 283 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(280): Show |
305 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(302): Show |
intron_variant | MODIFIER | c.1671+760G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123697 | |||||||
chr21:46123700 | G | GATGGATG others(1): Show |
282 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(279): Show |
304 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(301): Show |
intron_variant | MODIFIER | c.1671+763_1671+764i others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123700 | |||||||
chr21:46123723 | G | A | 8 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(5): Show |
8 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(5): Show |
intron_variant | MODIFIER | c.1671+786G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123723 | |||||||
chr21:46123738 | TGATGGAT others(21): Show |
T | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1671+811_1671+838d others(30): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123738 | ||||||
chr21:46123746 | G | C | 3 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0036t0001g0036 |
3 | HG02056.hp2 NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.1671+809G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123746 | |||||||
chr21:46123767 | GATGGATG others(17): Show |
G | 1 | a0001c0006t0001g0164 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1671+841_1672-850d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123767 | ||||||
chr21:46123778 | GAGTGGGT others(17): Show |
G | 2 | a0001c0026t0005g0232 a0001c0026t0005g0233 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.1671+850_1672-841d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123778 | ||||||
chr21:46123824 | A | ATGGGTGG others(1): Show |
90 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(87): Show |
103 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(100): Show |
intron_variant | MODIFIER | c.1672-821_1672-820i others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123824 | ||||||
chr21:46123868 | C | CAGATGGA others(9): Show |
126 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(123): Show |
133 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.1672-775_1672-774i others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123868 | ||||||
chr21:46123869 | AGATG | A | 5 | a0001c0002t0001g0320 a0001c0002t0002g0124 a0001c0002t0002g0289 others(2): Show |
5 | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-772_1672-769d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123869 | ||||||
chr21:46123871 | A | ATGGATAA others(9): Show |
22 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(19): Show |
24 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(21): Show |
intron_variant | MODIFIER | c.1672-775_1672-774i others(18): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123871 | ||||||
chr21:46123877 | G | A | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-774G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123877 | |||||||
chr21:46123878 | G | A | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-773G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123878 | |||||||
chr21:46123884 | TG | T | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-766delG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123884 | |||||||
chr21:46123887 | GTCA | G | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-763_1672-761d others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123887 | |||||||
chr21:46123891 | G | A | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-760G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123891 | |||||||
chr21:46123897 | A | G | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-754A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123897 | |||||||
chr21:46123900 | TGGATGGG others(12): Show |
T | 126 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(123): Show |
133 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(130): Show |
intron_variant | MODIFIER | c.1672-744_1672-726d others(21): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123900 | ||||||
chr21:46123903 | A | G | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-748A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123903 | |||||||
chr21:46123906 | G | A | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-745G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123906 | |||||||
chr21:46123909 | G | C | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-742G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123909 | |||||||
chr21:46123910 | G | A | 39 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(36): Show |
39 | HG00609.hp1 HG01099.hp1 HG01261.hp2 others(36): Show |
intron_variant | MODIFIER | c.1672-741G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123910 | |||||||
chr21:46123919 | A | AT | 38 | a0001c0001t0001g0039 a0001c0001t0001g0111 a0001c0001t0001g0136 others(35): Show |
38 | HG01099.hp1 HG01261.hp2 HG01346.hp1 others(35): Show |
intron_variant | MODIFIER | c.1672-732_1672-731i others(3): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123919 | |||||||
chr21:46123940 | G | A | 21 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(18): Show |
23 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(20): Show |
intron_variant | MODIFIER | c.1672-711G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123940 | |||||||
chr21:46123959 | AGATGGGT others(17): Show |
A | 5 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0025t0001g0234 others(2): Show |
5 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-683_1672-660d others(26): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123959 | ||||||
chr21:46123968 | TGTGA | T | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1672-675_1672-672d others(6): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46123968 | ||||||
chr21:46123980 | G | A | 3 | a0001c0002t0002g0274 a0001c0002t0002g0307 a0003c0016t0002g0026 |
3 | HG00597.hp2 HG00673.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.1672-671G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46123980 | |||||||
chr21:46124003 | G | A | 1 | a0001c0001t0001g0041 | 1 | HG02135.hp2 | intron_variant | MODIFIER | c.1672-648G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124003 | |||||||
chr21:46124017 | ATGAGTGG others(16): Show |
A | 78 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show |
91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.1672-631_1672-609d others(25): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124017 | ||||||
chr21:46124035 | G | A | 2 | a0001c0004t0001g0009 a0001c0004t0001g0129 |
2 | HG00280.hp2 HG00323.hp1 |
intron_variant | MODIFIER | c.1672-616G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124035 | |||||||
chr21:46124058 | G | A | 1 | a0001c0049t0001g0157 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.1672-593G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124058 | |||||||
chr21:46124141 | A | G | 23 | a0001c0018t0001g0168 a0001c0018t0001g0186 a0003c0010t0001g0188 others(20): Show |
23 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(20): Show |
intron_variant | MODIFIER | c.1672-510A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124141 | |||||||
chr21:46124152 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-499T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124152 | |||||||
chr21:46124169 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-482G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124169 | |||||||
chr21:46124176 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-475G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124176 | |||||||
chr21:46124178 | ATGGGTGG others(52): Show |
A | 7 | a0003c0008t0003g0045 a0003c0008t0003g0051 a0003c0008t0003g0190 others(4): Show |
7 | HG00423.hp2 HG00597.hp1 NA18941.hp2 others(4): Show |
intron_variant | MODIFIER | c.1672-462_1672-404d others(61): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124178 | ||||||
chr21:46124188 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-463G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124188 | |||||||
chr21:46124190 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-461A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124190 | |||||||
chr21:46124192 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-459G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124192 | |||||||
chr21:46124193 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-458G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124193 | |||||||
chr21:46124194 | A | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-457A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124194 | |||||||
chr21:46124196 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-455G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124196 | |||||||
chr21:46124197 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-454G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124197 | |||||||
chr21:46124198 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-453G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124198 | |||||||
chr21:46124200 | T | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-451T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124200 | |||||||
chr21:46124202 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-449G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124202 | |||||||
chr21:46124202 | GTGGGTGG others(20): Show |
G | 1 | a0001c0006t0001g0187 | 1 | NA18954.hp2 | intron_variant | MODIFIER | c.1672-442_1672-416d others(29): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124202 | ||||||
chr21:46124205 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-446G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124205 | |||||||
chr21:46124206 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-445G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124206 | |||||||
chr21:46124208 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-443G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124208 | |||||||
chr21:46124209 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-442G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124209 | |||||||
chr21:46124212 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-439G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124212 | |||||||
chr21:46124213 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-438G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124213 | |||||||
chr21:46124214 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-437G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124214 | |||||||
chr21:46124216 | G | A | 1 | a0001c0001t0001g0137 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.1672-435G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124216 | |||||||
chr21:46124216 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-435G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124216 | |||||||
chr21:46124224 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-427G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124224 | |||||||
chr21:46124227 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-424G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124227 | |||||||
chr21:46124228 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-423G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124228 | |||||||
chr21:46124231 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-420G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124231 | |||||||
chr21:46124232 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-419G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124232 | |||||||
chr21:46124233 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-418G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124233 | |||||||
chr21:46124235 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-416G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124235 | |||||||
chr21:46124236 | ACTGGGTG others(25): Show |
A | 1 | a0001c0002t0002g0288 | 1 | NA19057.hp1 | intron_variant | MODIFIER | c.1672-404_1672-373d others(34): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124236 | ||||||
chr21:46124238 | T | TATTTATT others(4): Show |
1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-413_1672-412i others(13): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124238 | |||||||
chr21:46124240 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-411G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124240 | |||||||
chr21:46124244 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-407G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124244 | |||||||
chr21:46124247 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-404G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124247 | |||||||
chr21:46124248 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-403G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124248 | |||||||
chr21:46124251 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-400G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124251 | |||||||
chr21:46124252 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-399G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124252 | |||||||
chr21:46124253 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-398A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124253 | |||||||
chr21:46124255 | G | A | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-396G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124255 | |||||||
chr21:46124256 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-395G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124256 | |||||||
chr21:46124260 | A | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-391A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124260 | |||||||
chr21:46124261 | G | C | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-390G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124261 | |||||||
chr21:46124265 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-386G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124265 | |||||||
chr21:46124269 | C | A | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-382C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124269 | |||||||
chr21:46124270 | T | A | 2 | a0001c0001t0001g0039 a0002c0012t0001g0033 |
2 | HG01099.hp1 HG02280.hp2 |
intron_variant | MODIFIER | c.1672-381T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124270 | |||||||
chr21:46124271 | G | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-380G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124271 | |||||||
chr21:46124273 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-378G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124273 | |||||||
chr21:46124281 | A | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-370A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124281 | |||||||
chr21:46124293 | TTGGGCGA others(1): Show |
T | 5 | a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0004t0001g0103 others(2): Show |
5 | HG01981.hp2 HG02630.hp2 HG04204.hp2 others(2): Show |
intron_variant | MODIFIER | c.1672-345_1672-338d others(10): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124293 | ||||||
chr21:46124295 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-356G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124295 | |||||||
chr21:46124299 | G | A | 2 | a0003c0010t0001g0188 a0003c0010t0001g0195 |
2 | HG02145.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.1672-352G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124299 | |||||||
chr21:46124301 | A | T | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-350A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124301 | |||||||
chr21:46124302 | T | G | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-349T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124302 | |||||||
chr21:46124313 | G | C | 1 | a0001c0001t0001g0039 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.1672-338G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124313 | |||||||
chr21:46124323 | G | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-328G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124323 | |||||||
chr21:46124326 | C | T | 2 | a0001c0002t0002g0270 a0001c0050t0002g0297 |
2 | HG03927.hp2 NA19087.hp2 |
intron_variant | MODIFIER | c.1672-325C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124326 | |||||||
chr21:46124342 | A | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-309A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124342 | |||||||
chr21:46124343 | C | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-308C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124343 | |||||||
chr21:46124347 | A | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-304A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124347 | |||||||
chr21:46124348 | T | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-303T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124348 | |||||||
chr21:46124349 | A | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-302A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124349 | |||||||
chr21:46124372 | T | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-279T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124372 | |||||||
chr21:46124374 | G | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-277G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124374 | |||||||
chr21:46124375 | A | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-276A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124375 | |||||||
chr21:46124376 | A | C | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-275A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124376 | |||||||
chr21:46124382 | T | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-269T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124382 | |||||||
chr21:46124385 | T | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-266T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124385 | |||||||
chr21:46124386 | T | A | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-265T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124386 | |||||||
chr21:46124389 | G | A | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-262G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124389 | |||||||
chr21:46124394 | T | C | 286 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(283): Show |
308 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(305): Show |
intron_variant | MODIFIER | c.1672-257T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124394 | |||||||
chr21:46124394 | T | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-257T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124394 | |||||||
chr21:46124405 | C | A | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-246C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124405 | |||||||
chr21:46124406 | A | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-245A>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124406 | |||||||
chr21:46124407 | C | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-244C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124407 | |||||||
chr21:46124408 | C | A | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-243C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124408 | |||||||
chr21:46124409 | C | G | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-242C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124409 | |||||||
chr21:46124412 | C | T | 1 | a0002c0012t0001g0033 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.1672-239C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124412 | |||||||
chr21:46124450 | G | A | 1 | a0002c0003t0001g0221 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.1672-201G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124450 | |||||||
chr21:46124461 | C | T | 1 | a0001c0001t0001g0131 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.1672-190C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124461 | |||||||
chr21:46124474 | T | C | 42 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(39): Show |
43 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.1672-177T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124474 | |||||||
chr21:46124537 | GC | G | 242 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(239): Show |
263 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(260): Show |
intron_variant | MODIFIER | c.1672-103delC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124537 | ||||||
chr21:46124537 | GCC | G | 41 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(38): Show |
42 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(39): Show |
intron_variant | MODIFIER | c.1672-104_1672-103d others(4): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr21 | 46124537 | ||||||
chr21:46124539 | C | T | 3 | a0001c0001t0001g0117 a0001c0001t0001g0160 a0001c0001t0001g0171 |
3 | NA18979.hp2 NA19055.hp1 NA19060.hp1 |
intron_variant | MODIFIER | c.1672-112C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124539 | |||||||
chr21:46124540 | C | T | 134 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(131): Show |
141 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(138): Show |
intron_variant | MODIFIER | c.1672-111C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124540 | |||||||
chr21:46124542 | C | T | 1 | a0001c0007t0001g0301 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1672-109C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124542 | |||||||
chr21:46124548 | C | T | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1672-103C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124548 | |||||||
chr21:46124562 | C | T | 2 | a0003c0064t0001g0194 a0004c0005t0001g0210 |
2 | HG01257.hp2 NA18969.hp2 |
intron_variant | MODIFIER | c.1672-89C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124562 | |||||||
chr21:46124614 | G | T | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.1672-37G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124614 | |||||||
chr21:46124627 | C | G | 137 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(134): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.1672-24C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124627 | |||||||
chr21:46124639 | G | A | 3 | a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0322 |
3 | HG02922.hp2 HG03139.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.1672-12G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 21/27 | chr21 | 46124639 | |||||||
chr21:46124748 | A | G | 42 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(39): Show |
43 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(40): Show |
intron_variant | MODIFIER | c.1734+35A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124748 | |||||||
chr21:46124813 | G | A | 78 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show |
91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.1735-72G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124813 | |||||||
chr21:46124815 | C | T | 3 | a0001c0035t0001g0053 a0001c0045t0001g0052 a0001c0047t0001g0244 |
3 | HG02965.hp1 HG02976.hp1 HG03209.hp1 |
intron_variant | MODIFIER | c.1735-70C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124815 | |||||||
chr21:46124855 | A | G | 21 | a0003c0010t0001g0188 a0003c0010t0001g0195 a0003c0010t0001g0206 others(18): Show |
21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.1735-30A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 22/27 | chr21 | 46124855 | |||||||
chr21:46124924 | G | A | 78 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show |
91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
splice_region_variant&intron_variant | LOW | c.1770+4G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46124924 | |||||||
chr21:46124934 | G | A | 1 | a0001c0001t0001g0134 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.1770+14G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46124934 | |||||||
chr21:46125031 | G | A | 1 | a0001c0036t0001g0036 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.1770+111G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125031 | |||||||
chr21:46125041 | GAGGGCAA others(33): Show |
G | 1 | a0003c0008t0003g0198 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.1770+132_1770+171d others(42): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr21 | 46125041 | ||||||
chr21:46125085 | G | A | 1 | a0001c0001t0001g0044 | 1 | HG01106.hp2 | intron_variant | MODIFIER | c.1770+165G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125085 | |||||||
chr21:46125107 | G | A | 75 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(72): Show |
88 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(85): Show |
intron_variant | MODIFIER | c.1771-159G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125107 | |||||||
chr21:46125144 | C | T | 1 | a0001c0002t0002g0296 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.1771-122C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125144 | |||||||
chr21:46125241 | A | G | 285 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(282): Show |
307 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
intron_variant | MODIFIER | c.1771-25A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125241 | |||||||
chr21:46125242 | C | G | 1 | a0001c0007t0005g0065 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.1771-24C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 23/27 | chr21 | 46125242 | |||||||
chr21:46125396 | T | C | 40 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0262 others(37): Show |
41 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.1817-69T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125396 | |||||||
chr21:46125403 | G | A | 2 | a0001c0007t0003g0246 a0001c0025t0001g0234 |
2 | HG01261.hp2 HG02559.hp2 |
intron_variant | MODIFIER | c.1817-62G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125403 | |||||||
chr21:46125432 | C | T | 78 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(75): Show |
91 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(88): Show |
intron_variant | MODIFIER | c.1817-33C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125432 | |||||||
chr21:46125442 | C | T | 1 | a0001c0002t0002g0283 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.1817-23C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | chr21 | 46125442 | |||||||
chr21:46125455 | A | AC | 83 | a0001c0001t0001g0037 a0001c0001t0001g0115 a0001c0002t0001g0320 others(80): Show |
97 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
splice_acceptor_variant&intron_variant | HIGH | c.1817-3dupC | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr21 | 46125455 | ||||||
chr21:46125682 | T | G | 2 | a0001c0002t0002g0124 a0001c0002t0002g0291 |
2 | HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.1969+65T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/27 | chr21 | 46125682 | |||||||
chr21:46125762 | G | C | 6 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0258 others(3): Show |
7 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(4): Show |
intron_variant | MODIFIER | c.1970-23G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/27 | chr21 | 46125762 | |||||||
chr21:46125770 | G | A | 1 | a0001c0001t0001g0213 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.1970-15G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 25/27 | chr21 | 46125770 | |||||||
chr21:46126287 | C | T | 4 | a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 others(1): Show |
4 | HG02886.hp2 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2422+50C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126287 | |||||||
chr21:46126330 | T | C | 179 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(176): Show |
187 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.2422+93T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126330 | |||||||
chr21:46126349 | C | A | 22 | a0001c0007t0001g0301 a0001c0044t0003g0196 a0002c0003t0001g0221 others(19): Show |
23 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(20): Show |
intron_variant | MODIFIER | c.2422+112C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126349 | |||||||
chr21:46126420 | T | C | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2423-83T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126420 | |||||||
chr21:46126445 | G | A | 1 | a0003c0010t0001g0188 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.2423-58G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126445 | |||||||
chr21:46126461 | G | A | 2 | a0001c0007t0005g0064 a0001c0007t0005g0065 |
2 | HG02615.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.2423-42G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126461 | |||||||
chr21:46126468 | C | A | 21 | a0001c0007t0001g0301 a0001c0044t0003g0196 a0002c0003t0001g0221 others(18): Show |
21 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(18): Show |
intron_variant | MODIFIER | c.2423-35C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126468 | |||||||
chr21:46126476 | T | C | 1 | a0008c0027t0003g0015 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2423-27T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | chr21 | 46126476 | |||||||
chr21:46126476 | T | TGGCCC | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2423-22_2423-18dup others(5): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | 46126476 | ||||||
chr21:46126476 | T | TGGCCCGG others(8): Show |
12 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(9): Show |
12 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(9): Show |
intron_variant | MODIFIER | c.2423-18_2423-17ins others(15): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr21 | 46126476 | ||||||
chr21:46126552 | G | C | 1 | a0001c0002t0013g0313 | 1 | NA18948.hp1 | intron_variant | MODIFIER | c.2461+11G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126552 | |||||||
chr21:46126658 | C | T | 2 | a0001c0001t0001g0169 a0001c0001t0001g0183 |
2 | HG02080.hp2 NA18945.hp1 |
intron_variant | MODIFIER | c.2461+117C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126658 | |||||||
chr21:46126669 | C | T | 1 | a0001c0035t0001g0053 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2461+128C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126669 | |||||||
chr21:46126744 | G | A | 2 | a0003c0010t0001g0189 a0003c0016t0001g0230 |
2 | HG02615.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2461+203G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126744 | |||||||
chr21:46126759 | C | T | 1 | a0001c0002t0002g0283 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2461+218C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126759 | |||||||
chr21:46126840 | G | T | 3 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0261 |
4 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+299G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126840 | |||||||
chr21:46126894 | T | G | 6 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(3): Show |
6 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.2461+353T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126894 | |||||||
chr21:46126916 | T | G | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+375T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126916 | |||||||
chr21:46126974 | T | C | 1 | a0012c0051t0001g0224 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2461+433T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46126974 | |||||||
chr21:46127064 | G | A | 3 | a0001c0009t0001g0022 a0001c0009t0001g0252 a0001c0009t0001g0261 |
4 | HG00140.hp2 HG00735.hp2 HG00738.hp1 others(1): Show |
intron_variant | MODIFIER | c.2461+523G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127064 | |||||||
chr21:46127172 | G | T | 131 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(128): Show |
138 | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(135): Show |
intron_variant | MODIFIER | c.2461+631G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127172 | |||||||
chr21:46127220 | A | G | 298 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(295): Show |
320 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(317): Show |
intron_variant | MODIFIER | c.2461+679A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127220 | |||||||
chr21:46127294 | C | A | 22 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(19): Show |
22 | HG00639.hp2 HG01261.hp2 HG02055.hp2 others(19): Show |
intron_variant | MODIFIER | c.2461+753C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127294 | |||||||
chr21:46127317 | G | A | 9 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(6): Show |
9 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2461+776G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127317 | |||||||
chr21:46127377 | C | T | 4 | a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 others(1): Show |
4 | HG02886.hp2 HG02897.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2461+836C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127377 | |||||||
chr21:46127418 | G | A | 137 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(134): Show |
144 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.2461+877G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127418 | |||||||
chr21:46127443 | C | T | 1 | a0004c0005t0004g0202 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.2461+902C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127443 | |||||||
chr21:46127462 | G | A | 9 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(6): Show |
9 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(6): Show |
intron_variant | MODIFIER | c.2461+921G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127462 | |||||||
chr21:46127462 | G | T | 1 | a0002c0061t0001g0067 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2461+921G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127462 | |||||||
chr21:46127512 | C | T | 3 | a0001c0002t0002g0124 a0001c0002t0002g0290 a0001c0002t0002g0291 |
3 | HG00735.hp1 HG00741.hp1 HG01074.hp2 |
intron_variant | MODIFIER | c.2461+971C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127512 | |||||||
chr21:46127538 | C | T | 7 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(4): Show |
7 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+997C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127538 | |||||||
chr21:46127560 | G | A | 21 | a0003c0010t0001g0188 a0003c0010t0001g0195 a0003c0010t0001g0206 others(18): Show |
21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.2461+1019G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127560 | |||||||
chr21:46127670 | C | T | 1 | a0004c0005t0001g0207 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.2461+1129C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127670 | |||||||
chr21:46127678 | C | G | 7 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(4): Show |
7 | HG01891.hp1 HG02559.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+1137C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127678 | |||||||
chr21:46127691 | A | G | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1150A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127691 | |||||||
chr21:46127726 | TG | T | 179 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(176): Show |
187 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(184): Show |
intron_variant | MODIFIER | c.2461+1191delG | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46127726 | ||||||
chr21:46127748 | T | C | 302 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(299): Show |
324 | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(321): Show |
intron_variant | MODIFIER | c.2461+1207T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127748 | |||||||
chr21:46127780 | C | T | 1 | a0012c0051t0001g0224 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2461+1239C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127780 | |||||||
chr21:46127782 | T | A | 1 | a0002c0003t0001g0225 | 1 | HG02818.hp2 | intron_variant | MODIFIER | c.2461+1241T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127782 | |||||||
chr21:46127860 | T | C | 144 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(141): Show |
153 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(150): Show |
intron_variant | MODIFIER | c.2461+1319T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127860 | |||||||
chr21:46127869 | G | T | 1 | a0001c0002t0002g0314 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.2461+1328G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127869 | |||||||
chr21:46127882 | C | T | 1 | a0001c0002t0002g0300 | 1 | NA18975.hp1 | intron_variant | MODIFIER | c.2461+1341C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127882 | |||||||
chr21:46127883 | G | A | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1342G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127883 | |||||||
chr21:46127926 | C | T | 34 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(31): Show |
35 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(32): Show |
intron_variant | MODIFIER | c.2461+1385C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127926 | |||||||
chr21:46127928 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2461+1387C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127928 | |||||||
chr21:46127944 | G | C | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+1403G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46127944 | |||||||
chr21:46128017 | C | T | 13 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(10): Show |
14 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(11): Show |
intron_variant | MODIFIER | c.2461+1476C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128017 | |||||||
chr21:46128077 | A | G | 1 | a0001c0006t0001g0150 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.2461+1536A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128077 | |||||||
chr21:46128097 | T | C | 188 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(185): Show |
196 | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(193): Show |
intron_variant | MODIFIER | c.2461+1556T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128097 | |||||||
chr21:46128153 | G | A | 1 | a0002c0012t0001g0025 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2461+1612G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128153 | |||||||
chr21:46128205 | C | T | 2 | a0001c0002t0002g0315 a0001c0002t0002g0322 |
2 | NA18965.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.2461+1664C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128205 | |||||||
chr21:46128220 | C | T | 1 | a0001c0006t0001g0166 | 1 | NA19087.hp1 | intron_variant | MODIFIER | c.2461+1679C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128220 | |||||||
chr21:46128238 | C | T | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2461+1697C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128238 | |||||||
chr21:46128280 | C | T | 2 | a0001c0022t0001g0235 a0001c0022t0001g0253 |
2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2461+1739C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128280 | |||||||
chr21:46128329 | C | T | 2 | a0001c0001t0001g0101 a0001c0001t0001g0102 |
2 | NA18943.hp2 NA19066.hp1 |
intron_variant | MODIFIER | c.2461+1788C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128329 | |||||||
chr21:46128334 | C | A | 1 | a0001c0001t0001g0101 | 1 | NA18943.hp2 | intron_variant | MODIFIER | c.2461+1793C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128334 | |||||||
chr21:46128433 | G | A | 115 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(112): Show |
120 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(117): Show |
intron_variant | MODIFIER | c.2461+1892G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128433 | |||||||
chr21:46128477 | A | G | 4 | a0001c0007t0003g0246 a0001c0025t0001g0234 a0002c0013t0003g0068 others(1): Show |
4 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(1): Show |
intron_variant | MODIFIER | c.2461+1936A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128477 | |||||||
chr21:46128484 | G | GTGGCCTG others(4): Show |
124 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(121): Show |
129 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(126): Show |
intron_variant | MODIFIER | c.2461+1950_2461+196 others(15): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46128484 | ||||||
chr21:46128576 | G | A | 7 | a0001c0007t0001g0301 a0002c0003t0001g0069 a0002c0003t0001g0223 others(4): Show |
7 | HG00639.hp2 HG01433.hp1 HG02109.hp2 others(4): Show |
intron_variant | MODIFIER | c.2461+2035G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128576 | |||||||
chr21:46128641 | A | C | 147 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(144): Show |
162 | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(159): Show |
intron_variant | MODIFIER | c.2461+2100A>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128641 | |||||||
chr21:46128695 | G | T | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+2154G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128695 | |||||||
chr21:46128911 | G | A | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2461+2370G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128911 | |||||||
chr21:46128939 | C | T | 2 | a0003c0032t0001g0239 a0003c0032t0001g0240 |
2 | HG02818.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2461+2398C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128939 | |||||||
chr21:46128940 | G | A | 2 | a0001c0002t0012g0020 a0001c0033t0002g0020 |
2 | NA18747.hp2 NA18942.hp2 |
intron_variant | MODIFIER | c.2461+2399G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128940 | |||||||
chr21:46128991 | T | C | 2 | a0002c0003t0001g0069 a0002c0061t0001g0067 |
2 | HG02109.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2461+2450T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46128991 | |||||||
chr21:46129041 | C | T | 3 | a0001c0007t0003g0262 a0001c0007t0003g0263 a0001c0007t0003g0264 |
3 | HG02886.hp2 HG02897.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.2461+2500C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129041 | |||||||
chr21:46129123 | G | A | 1 | a0008c0027t0003g0015 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2461+2582G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129123 | |||||||
chr21:46129148 | C | T | 1 | a0001c0001t0001g0172 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2461+2607C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129148 | |||||||
chr21:46129201 | C | A | 2 | a0001c0022t0001g0235 a0001c0022t0001g0253 |
2 | HG01243.hp2 HG02280.hp1 |
intron_variant | MODIFIER | c.2461+2660C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129201 | |||||||
chr21:46129208 | C | A | 1 | a0001c0002t0002g0277 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2461+2667C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129208 | |||||||
chr21:46129317 | G | A | 1 | a0001c0011t0001g0176 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2462-2637G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129317 | |||||||
chr21:46129449 | G | C | 3 | a0001c0002t0002g0018 a0001c0002t0002g0270 a0001c0050t0002g0297 |
4 | HG03927.hp2 NA18947.hp1 NA18954.hp1 others(1): Show |
intron_variant | MODIFIER | c.2462-2505G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129449 | |||||||
chr21:46129476 | G | A | 1 | a0005c0017t0002g0257 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2462-2478G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129476 | |||||||
chr21:46129496 | C | T | 4 | a0001c0002t0001g0320 a0001c0002t0002g0124 a0001c0002t0002g0290 others(1): Show |
4 | HG00735.hp1 HG00741.hp1 HG01074.hp2 others(1): Show |
intron_variant | MODIFIER | c.2462-2458C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129496 | |||||||
chr21:46129596 | G | C | 83 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(80): Show |
97 | HG00140.hp2 HG00423.hp1 HG00544.hp2 others(94): Show |
intron_variant | MODIFIER | c.2462-2358G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129596 | |||||||
chr21:46129607 | G | C | 1 | a0001c0002t0002g0283 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2462-2347G>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129607 | |||||||
chr21:46129643 | A | G | 12 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(9): Show |
13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2462-2311A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129643 | |||||||
chr21:46129655 | T | C | 93 | a0001c0002t0001g0320 a0001c0002t0002g0001 a0001c0002t0002g0004 others(90): Show |
106 | HG00423.hp1 HG00544.hp2 HG00597.hp2 others(103): Show |
intron_variant | MODIFIER | c.2462-2299T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129655 | |||||||
chr21:46129699 | C | T | 21 | a0003c0010t0001g0188 a0003c0010t0001g0195 a0003c0010t0001g0206 others(18): Show |
21 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(18): Show |
intron_variant | MODIFIER | c.2462-2255C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129699 | |||||||
chr21:46129715 | T | A | 138 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(135): Show |
144 | HG00140.hp1 HG00280.hp1 HG00558.hp1 others(141): Show |
intron_variant | MODIFIER | c.2462-2239T>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129715 | |||||||
chr21:46129770 | T | C | 1 | a0002c0003t0001g0076 | 1 | HG02040.hp1 | intron_variant | MODIFIER | c.2462-2184T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129770 | |||||||
chr21:46129782 | T | C | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-2172T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129782 | |||||||
chr21:46129783 | C | T | 1 | a0001c0002t0002g0287 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.2462-2171C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129783 | |||||||
chr21:46129801 | C | T | 34 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(31): Show |
34 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(31): Show |
intron_variant | MODIFIER | c.2462-2153C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129801 | |||||||
chr21:46129945 | C | T | 12 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(9): Show |
13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2462-2009C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46129945 | |||||||
chr21:46130061 | G | A | 1 | a0012c0051t0001g0224 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.2462-1893G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130061 | |||||||
chr21:46130065 | A | G | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1889A>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130065 | |||||||
chr21:46130066 | C | T | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-1888C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130066 | |||||||
chr21:46130135 | T | C | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1819T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130135 | |||||||
chr21:46130147 | G | A | 1 | a0001c0004t0001g0103 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.2462-1807G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130147 | |||||||
chr21:46130147 | G | T | 1 | a0001c0002t0002g0295 | 1 | HG03669.hp2 | intron_variant | MODIFIER | c.2462-1807G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130147 | |||||||
chr21:46130159 | G | A | 12 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(9): Show |
12 | HG01261.hp2 HG02257.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.2462-1795G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130159 | |||||||
chr21:46130177 | C | T | 1 | a0003c0016t0001g0199 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.2462-1777C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130177 | |||||||
chr21:46130187 | C | T | 1 | a0002c0055t0001g0049 | 1 | HG03710.hp1 | intron_variant | MODIFIER | c.2462-1767C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130187 | |||||||
chr21:46130228 | C | T | 6 | a0002c0012t0001g0033 a0002c0012t0007g0029 a0002c0012t0007g0032 others(3): Show |
6 | HG02257.hp1 HG02280.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.2462-1726C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130228 | |||||||
chr21:46130252 | C | T | 1 | a0001c0015t0002g0259 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.2462-1702C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130252 | |||||||
chr21:46130346 | G | A | 1 | a0003c0016t0001g0230 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2462-1608G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130346 | |||||||
chr21:46130361 | C | G | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-1593C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130361 | |||||||
chr21:46130381 | G | A | 1 | a0008c0027t0003g0015 | 2 | HG01516.hp1 HG01517.hp2 |
intron_variant | MODIFIER | c.2462-1573G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130381 | |||||||
chr21:46130463 | G | T | 67 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(64): Show |
69 | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(66): Show |
intron_variant | MODIFIER | c.2462-1491G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130463 | |||||||
chr21:46130621 | C | T | 2 | a0001c0026t0005g0232 a0001c0026t0005g0233 |
2 | HG01891.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2462-1333C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130621 | |||||||
chr21:46130681 | C | T | 6 | a0002c0012t0001g0033 a0002c0012t0007g0029 a0002c0012t0007g0032 others(3): Show |
6 | HG02257.hp1 HG02280.hp2 HG02451.hp2 others(3): Show |
intron_variant | MODIFIER | c.2462-1273C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130681 | |||||||
chr21:46130706 | T | G | 1 | a0001c0046t0001g0248 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.2462-1248T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130706 | |||||||
chr21:46130729 | T | C | 1 | a0001c0002t0002g0319 | 1 | NA18945.hp2 | intron_variant | MODIFIER | c.2462-1225T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130729 | |||||||
chr21:46130743 | G | A | 1 | a0001c0007t0003g0245 | 1 | HG02897.hp2 | intron_variant | MODIFIER | c.2462-1211G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130743 | |||||||
chr21:46130758 | C | T | 1 | a0001c0002t0002g0308 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.2462-1196C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130758 | |||||||
chr21:46130782 | T | C | 9 | a0001c0007t0001g0301 a0002c0003t0001g0221 a0002c0003t0001g0222 others(6): Show |
9 | HG00639.hp2 HG02055.hp2 HG02083.hp2 others(6): Show |
intron_variant | MODIFIER | c.2462-1172T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130782 | |||||||
chr21:46130840 | G | A | 61 | a0001c0002t0002g0277 a0001c0007t0001g0301 a0001c0007t0003g0245 others(58): Show |
62 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(59): Show |
intron_variant | MODIFIER | c.2462-1114G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130840 | |||||||
chr21:46130891 | C | T | 67 | a0001c0002t0002g0277 a0001c0002t0002g0285 a0001c0007t0001g0301 others(64): Show |
68 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(65): Show |
intron_variant | MODIFIER | c.2462-1063C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130891 | |||||||
chr21:46130901 | C | T | 5 | a0001c0007t0005g0063 a0001c0007t0005g0064 a0001c0007t0005g0065 others(2): Show |
5 | HG01433.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.2462-1053C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130901 | |||||||
chr21:46130902 | G | A | 2 | a0004c0005t0004g0237 a0004c0005t0004g0238 |
2 | HG01884.hp1 HG02258.hp1 |
intron_variant | MODIFIER | c.2462-1052G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130902 | |||||||
chr21:46130935 | C | T | 22 | a0001c0002t0002g0277 a0001c0007t0005g0059 a0003c0010t0001g0188 others(19): Show |
22 | HG00438.hp2 HG00639.hp1 HG01074.hp1 others(19): Show |
intron_variant | MODIFIER | c.2462-1019C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130935 | |||||||
chr21:46130998 | G | A | 63 | a0001c0002t0002g0277 a0001c0007t0001g0301 a0001c0007t0003g0245 others(60): Show |
64 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(61): Show |
intron_variant | MODIFIER | c.2462-956G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46130998 | |||||||
chr21:46131017 | C | G | 65 | a0001c0001t0001g0172 a0001c0002t0002g0277 a0001c0007t0001g0301 others(62): Show |
66 | HG00423.hp2 HG00438.hp2 HG00597.hp1 others(63): Show |
intron_variant | MODIFIER | c.2462-937C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131017 | |||||||
chr21:46131024 | C | T | 2 | a0002c0003t0001g0072 a0005c0017t0002g0311 |
2 | NA18982.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.2462-930C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131024 | |||||||
chr21:46131059 | G | A | 1 | a0002c0003t0001g0089 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2462-895G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131059 | |||||||
chr21:46131085 | C | G | 1 | a0001c0043t0002g0284 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.2462-869C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131085 | |||||||
chr21:46131089 | C | A | 1 | a0001c0001t0001g0228 | 1 | HG03710.hp2 | intron_variant | MODIFIER | c.2462-865C>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131089 | |||||||
chr21:46131194 | C | T | 2 | a0002c0031t0001g0217 a0002c0031t0001g0219 |
2 | HG02055.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.2462-760C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131194 | |||||||
chr21:46131208 | G | A | 1 | a0001c0002t0002g0276 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2462-746G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131208 | |||||||
chr21:46131250 | G | A | 33 | a0001c0007t0001g0301 a0001c0007t0005g0063 a0001c0007t0005g0064 others(30): Show |
35 | HG00140.hp2 HG00423.hp2 HG00597.hp1 others(32): Show |
intron_variant | MODIFIER | c.2462-704G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131250 | |||||||
chr21:46131306 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.2462-648C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131306 | |||||||
chr21:46131311 | C | T | 12 | a0001c0044t0003g0196 a0003c0008t0003g0045 a0003c0008t0003g0046 others(9): Show |
13 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(10): Show |
intron_variant | MODIFIER | c.2462-643C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131311 | |||||||
chr21:46131468 | G | T | 1 | a0002c0003t0001g0057 | 1 | HG03669.hp1 | intron_variant | MODIFIER | c.2462-486G>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131468 | |||||||
chr21:46131477 | G | A | 1 | a0002c0003t0001g0085 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2462-477G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131477 | |||||||
chr21:46131485 | G | A | 1 | a0001c0001t0001g0137 | 1 | NA18984.hp2 | intron_variant | MODIFIER | c.2462-469G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131485 | |||||||
chr21:46131492 | C | G | 1 | a0004c0005t0004g0229 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.2462-462C>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131492 | |||||||
chr21:46131525 | T | C | 1 | a0001c0041t0001g0128 | 1 | HG01496.hp1 | intron_variant | MODIFIER | c.2462-429T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131525 | |||||||
chr21:46131545 | T | G | 29 | a0001c0007t0003g0245 a0001c0007t0003g0246 a0001c0007t0003g0262 others(26): Show |
30 | HG00423.hp2 HG00597.hp1 HG01243.hp1 others(27): Show |
intron_variant | MODIFIER | c.2462-409T>G | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131545 | |||||||
chr21:46131583 | ACACAGAC others(7): Show |
A | 1 | a0001c0004t0001g0167 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.2462-369_2462-356d others(16): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr21 | 46131583 | ||||||
chr21:46131680 | G | A | 8 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(5): Show |
8 | HG01433.hp1 HG01891.hp1 HG02559.hp1 others(5): Show |
intron_variant | MODIFIER | c.2462-274G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131680 | |||||||
chr21:46131705 | G | A | 1 | a0001c0002t0002g0251 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.2462-249G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131705 | |||||||
chr21:46131750 | T | C | 40 | a0001c0007t0001g0301 a0001c0007t0003g0245 a0001c0007t0003g0246 others(37): Show |
41 | HG00423.hp2 HG00597.hp1 HG00639.hp2 others(38): Show |
intron_variant | MODIFIER | c.2462-204T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131750 | |||||||
chr21:46131782 | C | T | 18 | a0001c0002t0002g0276 a0001c0002t0002g0277 a0001c0002t0002g0285 others(15): Show |
18 | HG02145.hp1 HG02145.hp2 HG02257.hp1 others(15): Show |
intron_variant | MODIFIER | c.2462-172C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131782 | |||||||
chr21:46131792 | G | A | 1 | a0002c0003t0001g0085 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2462-162G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131792 | |||||||
chr21:46131837 | C | T | 4 | a0001c0007t0005g0059 a0001c0007t0005g0063 a0001c0007t0005g0064 others(1): Show |
4 | HG02559.hp1 HG02615.hp2 HG03098.hp1 others(1): Show |
intron_variant | MODIFIER | c.2462-117C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131837 | |||||||
chr21:46131845 | T | C | 3 | a0001c0004t0001g0247 a0001c0023t0001g0249 a0001c0023t0001g0250 |
3 | HG02630.hp1 HG02809.hp2 NA19043.hp1 |
intron_variant | MODIFIER | c.2462-109T>C | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131845 | |||||||
chr21:46131919 | C | T | 163 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(160): Show |
169 | HG00140.hp1 HG00280.hp1 HG00438.hp2 others(166): Show |
intron_variant | MODIFIER | c.2462-35C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131919 | |||||||
chr21:46131924 | C | T | 4 | a0001c0002t0002g0279 a0001c0002t0002g0299 a0001c0002t0002g0300 others(1): Show |
4 | NA18950.hp2 NA18975.hp1 NA19012.hp2 others(1): Show |
intron_variant | MODIFIER | c.2462-30C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131924 | |||||||
chr21:46131941 | C | T | 1 | a0001c0002t0002g0316 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2462-13C>T | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131941 | |||||||
chr21:46131942 | G | A | 1 | a0001c0004t0001g0173 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2462-12G>A | COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 27/27 | chr21 | 46131942 |