Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| Item | Value |
|---|---|
| geneid | 5373 |
| ensemblid | ENSG00000140650.13 |
| hgncid | 9115 |
| symbol | PMM2 |
| name | phosphomannomutase 2 |
| refseq_nuc | NM_000303.3 |
| refseq_prot | NP_000294.1 |
| ensembl_nuc | ENST00000268261.9 |
| ensembl_prot | ENSP00000268261.4 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 8797839 |
| end | 8849325 |
| strand | + |
| ver | v1.2 |
| region | chr16:8797839-8849325 |
| region5000 | chr16:8792839-8854325 |
| regionname0 | PMM2_chr16_8797839_8849325 |
| regionname5000 | PMM2_chr16_8792839_8854325 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 1/1 | 246 | 390 | 97 | 71 | 169 | 13 | 38 | 126 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0002 | 0/0 | 246 | 5 | 1 | 4 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0003 | 0/0 | 246 | 4 | 0 | 0 | 4 | 0 | 0 | 3 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0004 | 0/0 | 246 | 4 | 0 | 0 | 4 | 0 | 0 | 4 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0005 | 0/0 | 246 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0006 | 0/0 | 246 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0007 | 0/0 | 246 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| a0008 | 0/0 | 246 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | MAAPG others(241): Show |
chr16 | 8792839 | 8854325 |
| achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 1/1 | 738 | 386 | 96 | 69 | 168 | 13 | 38 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0001c0005 | 0/0 | 738 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0001c0007 | 0/0 | 738 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0001c0010 | 0/0 | 738 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0002c0002 | 0/0 | 738 | 5 | 1 | 4 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0003c0004 | 0/0 | 738 | 4 | 0 | 0 | 4 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0004c0003 | 0/0 | 738 | 4 | 0 | 0 | 4 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0005c0006 | 0/0 | 738 | 2 | 0 | 1 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0006c0011 | 0/0 | 738 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0007c0009 | 0/0 | 738 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 | ||
| a0008c0008 | 0/0 | 738 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | ATGGC others(733): Show |
chr16 | 8792839 | 8854325 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/1 | 2285 | 137 | 18 | 25 | 72 | 7 | 14 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0002 | 0/0 | 2285 | 95 | 12 | 12 | 56 | 3 | 12 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0003 | 0/0 | 2285 | 55 | 7 | 12 | 28 | 2 | 6 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0004 | 1/0 | 2285 | 19 | 5 | 8 | 3 | 0 | 2 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0005 | 0/0 | 2285 | 12 | 11 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0006 | 0/0 | 2285 | 7 | 7 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0007 | 0/0 | 2285 | 5 | 5 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0008 | 0/0 | 2285 | 5 | 0 | 4 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0009 | 0/0 | 2285 | 5 | 5 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0010 | 0/0 | 2285 | 5 | 5 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0011 | 0/0 | 2285 | 3 | 0 | 0 | 3 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0012 | 0/0 | 2285 | 3 | 3 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0013 | 0/0 | 2285 | 3 | 1 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0014 | 0/0 | 2285 | 3 | 3 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0015 | 0/0 | 2285 | 2 | 2 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0016 | 0/0 | 2285 | 2 | 2 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0017 | 0/0 | 2285 | 2 | 2 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0019 | 0/0 | 2285 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0020 | 0/0 | 2285 | 2 | 2 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0021 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0022 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0023 | 0/0 | 2285 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0024 | 0/0 | 2285 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0025 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0026 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0027 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0028 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0029 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0030 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0031 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0032 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0033 | 0/0 | 2285 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0034 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0035 | 0/0 | 2285 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0037 | 0/0 | 2285 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0038 | 0/0 | 2285 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0039 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0001t0040 | 0/0 | 2285 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0005t0001 | 0/0 | 2285 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0007t0002 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0001c0010t0004 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0002c0002t0002 | 0/0 | 2285 | 4 | 0 | 4 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0002c0002t0036 | 0/0 | 2285 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0003c0004t0003 | 0/0 | 2285 | 4 | 0 | 0 | 4 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0004c0003t0003 | 0/0 | 2285 | 4 | 0 | 0 | 4 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0005c0006t0018 | 0/0 | 2285 | 2 | 0 | 1 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0006c0011t0001 | 0/0 | 2285 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0007c0009t0003 | 0/0 | 2285 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| a0008c0008t0003 | 0/0 | 2285 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | CTCGT others(2280): Show |
chr16 | 8792839 | 8854325 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 4 | 0 | 2 | 1 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0003 | 0/0 | 3 | 0 | 0 | 3 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0007 | 0/0 | 2 | 0 | 1 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0008 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0009 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0010 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0021 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0057 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0059 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0061 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0062 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0063 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0064 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0069 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0072 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0074 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0075 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0081 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0082 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0084 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0086 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0087 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0089 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0091 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0092 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0094 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0108 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0132 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0133 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0134 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0138 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0139 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0141 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0142 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0143 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0147 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0148 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0150 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0151 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0153 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0154 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0155 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0157 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0158 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0159 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0160 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0161 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0162 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0163 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0164 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0166 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0167 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0168 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0169 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0181 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0182 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0183 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0185 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0186 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0187 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0189 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0190 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0191 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0192 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0305 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0312 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0314 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0316 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0317 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0318 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0361 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0363 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0364 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0365 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0366 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0001g0375 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0002 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0012 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0013 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0067 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0098 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0099 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0100 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0102 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0149 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0188 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0195 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0212 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0219 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0220 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0222 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0223 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0224 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0227 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0229 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0230 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0232 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0233 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0234 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0235 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0236 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0237 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0242 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0245 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0246 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0248 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0251 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0256 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0257 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0259 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0260 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0262 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0263 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0269 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0274 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0275 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0278 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0282 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0286 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0287 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0288 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0289 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0290 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0293 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0294 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0002g0371 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0018 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0019 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0022 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0146 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0208 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0209 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0210 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0211 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0321 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0324 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0325 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0328 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0329 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0330 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0331 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0332 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0333 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0335 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0336 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0338 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0339 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0341 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0342 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0343 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0344 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0346 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0348 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0349 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0350 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0352 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0353 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0355 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0356 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0357 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0358 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0359 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0362 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0367 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0368 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0373 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0374 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0376 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0003g0377 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0004 | 0/0 | 3 | 0 | 2 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0015 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0295 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0296 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0299 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0300 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0302 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0303 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0304 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0307 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0308 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0309 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0004g0311 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0176 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0177 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0178 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0005g0180 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0201 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0202 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0203 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0006g0207 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0007g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0007g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0007g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0007g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0007g0165 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0008g0023 | 0/0 | 2 | 0 | 1 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0008g0378 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0008g0379 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0008g0380 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0009g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0009g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0009g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0009g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0009g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0010g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0010g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0010g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0010g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0010g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0011g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0011g0334 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0011g0340 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0012g0014 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0012g0297 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0013g0011 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0013g0216 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0014g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0014g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0014g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0015g0319 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0015g0320 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0016g0204 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0016g0205 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0017g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0017g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0019g0005 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0020g0218 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0020g0281 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0021g0369 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0022g0322 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0023g0372 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0024g0337 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0025g0351 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0026g0017 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0027g0354 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0028g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0029g0313 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0030g0298 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0031g0047 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0032g0206 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0033g0039 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0034g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0035g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0037g0261 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0038g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0039g0264 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0001t0040g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0005t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0005t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0007t0002g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0001c0010t0004g0306 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0002c0002t0002g0193 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0002c0002t0002g0197 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0002c0002t0002g0199 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0002c0002t0002g0200 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0002c0002t0036g0196 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0003c0004t0003g0020 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0003c0004t0003g0345 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0003c0004t0003g0347 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0003c0004t0003g0370 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0004c0003t0003g0016 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0004c0003t0003g0326 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0004c0003t0003g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0005c0006t0018g0283 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0005c0006t0018g0284 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0006c0011t0001g0315 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0007c0009t0003g0360 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| a0008c0008t0003g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0001 | c0001 | t0002 | g0195 | EUR | FIN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00280 | hp2 | a0001 | c0001 | t0002 | g0234 | EUR | FIN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00323 | hp1 | a0001 | c0001 | t0038 | g0194 | EUR | FIN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00323 | hp2 | a0001 | c0001 | t0001 | g0087 | EUR | FIN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00408 | hp1 | a0001 | c0001 | t0002 | g0266 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00408 | hp2 | a0001 | c0001 | t0003 | g0330 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00423 | hp1 | a0001 | c0001 | t0002 | g0248 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00423 | hp2 | a0003 | c0004 | t0003 | g0345 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0106 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00438 | hp2 | a0001 | c0001 | t0003 | g0332 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00544 | hp1 | a0001 | c0001 | t0003 | g0020 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00544 | hp2 | a0001 | c0001 | t0001 | g0048 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00558 | hp1 | a0001 | c0001 | t0002 | g0235 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00558 | hp2 | a0001 | c0001 | t0002 | g0236 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00597 | hp1 | a0001 | c0001 | t0001 | g0127 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00597 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00609 | hp1 | a0001 | c0001 | t0001 | g0046 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00609 | hp2 | a0001 | c0001 | t0001 | g0161 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00621 | hp1 | a0001 | c0001 | t0003 | g0335 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00621 | hp2 | a0001 | c0001 | t0002 | g0221 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00639 | hp1 | a0001 | c0001 | t0002 | g0288 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00639 | hp2 | a0002 | c0002 | t0002 | g0200 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00642 | hp1 | a0001 | c0001 | t0001 | g0069 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00642 | hp2 | a0001 | c0001 | t0001 | g0092 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00673 | hp1 | a0001 | c0001 | t0001 | g0121 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00673 | hp2 | a0001 | c0001 | t0003 | g0324 | EAS | CHS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00733 | hp1 | a0001 | c0001 | t0003 | g0096 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00733 | hp2 | a0001 | c0001 | t0037 | g0261 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00735 | hp1 | a0001 | c0001 | t0003 | g0328 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00735 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00738 | hp1 | a0001 | c0001 | t0001 | g0184 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00738 | hp2 | a0001 | c0001 | t0003 | g0018 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00741 | hp1 | a0001 | c0001 | t0003 | g0018 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG00741 | hp2 | a0001 | c0001 | t0008 | g0380 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01069 | hp1 | a0002 | c0002 | t0002 | g0197 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01069 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01070 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01070 | hp2 | a0001 | c0001 | t0002 | g0275 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01071 | hp1 | a0001 | c0001 | t0002 | g0012 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01071 | hp2 | a0001 | c0001 | t0001 | g0010 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01074 | hp1 | a0001 | c0001 | t0003 | g0022 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01074 | hp2 | a0001 | c0001 | t0001 | g0091 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01081 | hp1 | a0001 | c0005 | t0001 | g0070 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01081 | hp2 | a0001 | c0001 | t0002 | g0259 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01099 | hp1 | a0001 | c0001 | t0001 | g0108 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01099 | hp2 | a0001 | c0001 | t0002 | g0013 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01106 | hp1 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01106 | hp2 | a0001 | c0001 | t0019 | g0005 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01109 | hp1 | a0001 | c0001 | t0001 | g0153 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01109 | hp2 | a0001 | c0001 | t0019 | g0005 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01167 | hp1 | a0001 | c0001 | t0013 | g0011 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01167 | hp2 | a0001 | c0001 | t0002 | g0198 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01168 | hp1 | a0001 | c0001 | t0001 | g0138 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01168 | hp2 | a0001 | c0001 | t0002 | g0013 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01169 | hp1 | a0001 | c0001 | t0013 | g0011 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01169 | hp2 | a0001 | c0001 | t0002 | g0227 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0111 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01175 | hp2 | a0001 | c0001 | t0003 | g0022 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01192 | hp1 | a0001 | c0001 | t0003 | g0350 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01192 | hp2 | a0001 | c0001 | t0005 | g0177 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01243 | hp1 | a0001 | c0001 | t0004 | g0311 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01243 | hp2 | a0001 | c0001 | t0002 | g0260 | AMR | PUR | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0112 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01255 | hp2 | a0001 | c0001 | t0001 | g0312 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01256 | hp1 | a0001 | c0001 | t0004 | g0302 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01256 | hp2 | a0001 | c0001 | t0040 | g0073 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01257 | hp1 | a0002 | c0002 | t0002 | g0199 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01257 | hp2 | a0001 | c0001 | t0008 | g0023 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01261 | hp1 | a0005 | c0006 | t0018 | g0283 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01261 | hp2 | a0001 | c0001 | t0004 | g0300 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01346 | hp1 | a0001 | c0001 | t0033 | g0039 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01346 | hp2 | a0001 | c0001 | t0008 | g0378 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01358 | hp1 | a0001 | c0005 | t0001 | g0071 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01358 | hp2 | a0001 | c0001 | t0001 | g0182 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01361 | hp1 | a0001 | c0001 | t0001 | g0136 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01361 | hp2 | a0002 | c0002 | t0002 | g0193 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01496 | hp1 | a0001 | c0001 | t0001 | g0086 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01496 | hp2 | a0001 | c0001 | t0001 | g0186 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01515 | hp1 | a0001 | c0001 | t0003 | g0373 | EUR | IBS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01515 | hp2 | a0001 | c0001 | t0001 | g0007 | EUR | IBS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01516 | hp1 | a0001 | c0001 | t0001 | g0183 | EUR | IBS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01516 | hp2 | a0001 | c0001 | t0001 | g0135 | EUR | IBS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01517 | hp1 | a0001 | c0001 | t0001 | g0131 | EUR | IBS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01517 | hp2 | a0001 | c0001 | t0003 | g0374 | EUR | IBS | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01884 | hp1 | a0001 | c0001 | t0007 | g0165 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01884 | hp2 | a0001 | c0001 | t0001 | g0305 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01891 | hp1 | a0001 | c0001 | t0001 | g0363 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01891 | hp2 | a0001 | c0001 | t0010 | g0034 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01928 | hp1 | a0001 | c0001 | t0003 | g0056 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01928 | hp2 | a0001 | c0001 | t0004 | g0303 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01934 | hp1 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01934 | hp2 | a0001 | c0001 | t0002 | g0222 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01978 | hp1 | a0001 | c0001 | t0003 | g0019 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01978 | hp2 | a0001 | c0001 | t0002 | g0220 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01981 | hp1 | a0001 | c0001 | t0003 | g0019 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01981 | hp2 | a0001 | c0001 | t0004 | g0308 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01993 | hp1 | a0001 | c0001 | t0008 | g0379 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01993 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02004 | hp1 | a0001 | c0001 | t0003 | g0348 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02004 | hp2 | a0001 | c0001 | t0003 | g0344 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02015 | hp1 | a0001 | c0001 | t0003 | g0358 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02015 | hp2 | a0001 | c0001 | t0002 | g0274 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02027 | hp1 | a0001 | c0001 | t0002 | g0238 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02027 | hp2 | a0001 | c0001 | t0003 | g0341 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02040 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02040 | hp2 | a0001 | c0001 | t0003 | g0339 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02055 | hp1 | a0001 | c0001 | t0002 | g0102 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02055 | hp2 | a0001 | c0001 | t0016 | g0205 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02056 | hp1 | a0001 | c0001 | t0002 | g0289 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02056 | hp2 | a0001 | c0001 | t0002 | g0252 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02071 | hp1 | a0001 | c0001 | t0004 | g0304 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02071 | hp2 | a0001 | c0001 | t0001 | g0133 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02074 | hp1 | a0001 | c0001 | t0001 | g0081 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02074 | hp2 | a0001 | c0001 | t0002 | g0254 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02080 | hp1 | a0001 | c0001 | t0003 | g0325 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02080 | hp2 | a0001 | c0001 | t0003 | g0343 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02129 | hp1 | a0001 | c0001 | t0025 | g0351 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02129 | hp2 | a0001 | c0001 | t0002 | g0290 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02132 | hp1 | a0001 | c0001 | t0001 | g0162 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02132 | hp2 | a0001 | c0001 | t0002 | g0245 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02135 | hp1 | a0001 | c0001 | t0001 | g0074 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02135 | hp2 | a0001 | c0001 | t0003 | g0211 | EAS | KHV | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02145 | hp1 | a0001 | c0001 | t0009 | g0028 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02145 | hp2 | a0001 | c0001 | t0002 | g0101 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02148 | hp1 | a0001 | c0001 | t0001 | g0189 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02148 | hp2 | a0001 | c0001 | t0004 | g0004 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02165 | hp1 | a0001 | c0001 | t0003 | g0342 | EAS | CDX | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02165 | hp2 | a0001 | c0001 | t0002 | g0249 | EAS | CDX | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02257 | hp1 | a0001 | c0001 | t0004 | g0299 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02257 | hp2 | a0001 | c0001 | t0014 | g0042 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02258 | hp1 | a0001 | c0001 | t0010 | g0035 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02258 | hp2 | a0001 | c0001 | t0002 | g0099 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02273 | hp1 | a0001 | c0001 | t0004 | g0015 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02273 | hp2 | a0001 | c0001 | t0001 | g0317 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02280 | hp1 | a0001 | c0001 | t0001 | g0316 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02280 | hp2 | a0001 | c0001 | t0010 | g0038 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02300 | hp1 | a0001 | c0001 | t0001 | g0185 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02300 | hp2 | a0001 | c0001 | t0001 | g0141 | AMR | PEL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02451 | hp1 | a0001 | c0001 | t0003 | g0054 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02451 | hp2 | a0001 | c0001 | t0007 | g0118 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02572 | hp1 | a0002 | c0002 | t0036 | g0196 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02572 | hp2 | a0001 | c0001 | t0001 | g0044 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02602 | hp1 | a0001 | c0001 | t0001 | g0066 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02602 | hp2 | a0001 | c0001 | t0003 | g0377 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02615 | hp1 | a0001 | c0001 | t0007 | g0117 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02615 | hp2 | a0001 | c0001 | t0006 | g0031 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02622 | hp1 | a0001 | c0001 | t0003 | g0051 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02622 | hp2 | a0001 | c0001 | t0005 | g0178 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02630 | hp1 | a0001 | c0001 | t0020 | g0281 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02630 | hp2 | a0001 | c0001 | t0015 | g0320 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02647 | hp1 | a0001 | c0001 | t0020 | g0218 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02647 | hp2 | a0001 | c0001 | t0005 | g0170 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02683 | hp1 | a0001 | c0001 | t0001 | g0187 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02683 | hp2 | a0006 | c0011 | t0001 | g0315 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02698 | hp1 | a0001 | c0001 | t0004 | g0015 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02698 | hp2 | a0001 | c0001 | t0001 | g0151 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02717 | hp1 | a0001 | c0001 | t0009 | g0026 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02717 | hp2 | a0001 | c0001 | t0012 | g0014 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02723 | hp1 | a0001 | c0001 | t0012 | g0297 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02723 | hp2 | a0001 | c0001 | t0001 | g0366 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02735 | hp1 | a0001 | c0001 | t0003 | g0368 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02735 | hp2 | a0001 | c0001 | t0002 | g0287 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02738 | hp1 | a0001 | c0001 | t0001 | g0181 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02738 | hp2 | a0001 | c0001 | t0002 | g0278 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02809 | hp1 | a0001 | c0001 | t0017 | g0025 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02809 | hp2 | a0001 | c0001 | t0001 | g0094 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02818 | hp1 | a0001 | c0001 | t0032 | g0206 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02818 | hp2 | a0001 | c0001 | t0007 | g0115 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02886 | hp1 | a0001 | c0001 | t0014 | g0041 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02886 | hp2 | a0001 | c0001 | t0005 | g0176 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02895 | hp1 | a0001 | c0001 | t0017 | g0024 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02895 | hp2 | a0001 | c0001 | t0005 | g0174 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02896 | hp1 | a0001 | c0001 | t0005 | g0172 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02896 | hp2 | a0001 | c0001 | t0009 | g0030 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02897 | hp1 | a0001 | c0001 | t0005 | g0171 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02897 | hp2 | a0001 | c0001 | t0005 | g0179 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02922 | hp1 | a0001 | c0001 | t0004 | g0295 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02922 | hp2 | a0001 | c0001 | t0012 | g0014 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02965 | hp1 | a0001 | c0001 | t0039 | g0264 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02965 | hp2 | a0001 | c0010 | t0004 | g0306 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02970 | hp1 | a0001 | c0001 | t0015 | g0319 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02970 | hp2 | a0001 | c0001 | t0007 | g0114 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02976 | hp1 | a0001 | c0001 | t0003 | g0055 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02976 | hp2 | a0001 | c0001 | t0001 | g0045 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03041 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03041 | hp2 | a0001 | c0001 | t0001 | g0052 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03098 | hp1 | a0001 | c0001 | t0002 | g0371 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03098 | hp2 | a0001 | c0001 | t0009 | g0027 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03130 | hp1 | a0001 | c0001 | t0005 | g0175 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03130 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03139 | hp1 | a0001 | c0001 | t0001 | g0365 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03139 | hp2 | a0001 | c0001 | t0016 | g0204 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03195 | hp1 | a0001 | c0001 | t0005 | g0180 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03195 | hp2 | a0001 | c0001 | t0002 | g0060 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03209 | hp1 | a0001 | c0001 | t0010 | g0037 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03209 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03225 | hp1 | a0001 | c0001 | t0004 | g0296 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03225 | hp2 | a0001 | c0001 | t0003 | g0053 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03239 | hp1 | a0001 | c0001 | t0003 | g0331 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03239 | hp2 | a0001 | c0001 | t0003 | g0359 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03453 | hp1 | a0001 | c0001 | t0002 | g0098 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03453 | hp2 | a0001 | c0001 | t0004 | g0310 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03486 | hp1 | a0001 | c0001 | t0034 | g0040 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03486 | hp2 | a0001 | c0001 | t0006 | g0202 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03491 | hp1 | a0001 | c0001 | t0002 | g0285 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03491 | hp2 | a0001 | c0001 | t0001 | g0090 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03492 | hp1 | a0001 | c0001 | t0002 | g0286 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03492 | hp2 | a0001 | c0001 | t0002 | g0242 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03516 | hp1 | a0001 | c0001 | t0013 | g0216 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03516 | hp2 | a0001 | c0001 | t0001 | g0318 | AFR | ESN | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03540 | hp1 | a0001 | c0001 | t0010 | g0036 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03540 | hp2 | a0001 | c0001 | t0003 | g0050 | AFR | GWD | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03579 | hp1 | a0001 | c0001 | t0006 | g0201 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03579 | hp2 | a0001 | c0001 | t0022 | g0322 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03654 | hp1 | a0001 | c0001 | t0001 | g0075 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03654 | hp2 | a0001 | c0001 | t0002 | g0257 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03688 | hp1 | a0001 | c0001 | t0002 | g0263 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03688 | hp2 | a0001 | c0001 | t0003 | g0321 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03704 | hp1 | a0001 | c0001 | t0002 | g0232 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03704 | hp2 | a0001 | c0001 | t0004 | g0004 | SAS | PJL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03831 | hp1 | a0001 | c0001 | t0001 | g0061 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03831 | hp2 | a0007 | c0009 | t0003 | g0360 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03834 | hp1 | a0001 | c0001 | t0023 | g0372 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03834 | hp2 | a0001 | c0001 | t0001 | g0084 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03927 | hp1 | a0001 | c0001 | t0008 | g0023 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03927 | hp2 | a0001 | c0001 | t0001 | g0057 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04115 | hp1 | a0001 | c0001 | t0001 | g0167 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04115 | hp2 | a0001 | c0001 | t0001 | g0169 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04184 | hp1 | a0001 | c0001 | t0002 | g0229 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04184 | hp2 | a0001 | c0001 | t0001 | g0049 | SAS | BEB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04199 | hp1 | a0001 | c0001 | t0002 | g0282 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04199 | hp2 | a0001 | c0001 | t0001 | g0166 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04204 | hp1 | a0001 | c0001 | t0035 | g0270 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04204 | hp2 | a0001 | c0001 | t0002 | g0188 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04228 | hp1 | a0001 | c0001 | t0002 | g0233 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG04228 | hp2 | a0001 | c0001 | t0003 | g0352 | SAS | STU | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18522 | hp1 | a0001 | c0001 | t0006 | g0207 | AFR | YRI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18522 | hp2 | a0001 | c0001 | t0001 | g0021 | AFR | YRI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18612 | hp1 | a0001 | c0001 | t0002 | g0250 | EAS | CHB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18612 | hp2 | a0001 | c0001 | t0001 | g0085 | EAS | CHB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18747 | hp1 | a0001 | c0001 | t0002 | g0103 | EAS | CHB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18747 | hp2 | a0001 | c0001 | t0001 | g0129 | EAS | CHB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18906 | hp1 | a0001 | c0001 | t0004 | g0307 | AFR | YRI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18906 | hp2 | a0001 | c0001 | t0005 | g0110 | AFR | YRI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18939 | hp1 | a0001 | c0001 | t0002 | g0240 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18939 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18940 | hp1 | a0001 | c0001 | t0002 | g0251 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18940 | hp2 | a0001 | c0001 | t0001 | g0143 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18942 | hp1 | a0001 | c0001 | t0003 | g0376 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18942 | hp2 | a0001 | c0001 | t0002 | g0213 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18947 | hp1 | a0001 | c0001 | t0002 | g0258 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18947 | hp2 | a0001 | c0001 | t0001 | g0152 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18948 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18948 | hp2 | a0004 | c0003 | t0003 | g0326 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18949 | hp1 | a0003 | c0004 | t0003 | g0020 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18949 | hp2 | a0001 | c0001 | t0003 | g0146 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18950 | hp1 | a0001 | c0001 | t0003 | g0346 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18950 | hp2 | a0003 | c0004 | t0003 | g0370 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18951 | hp1 | a0001 | c0001 | t0001 | g0158 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18951 | hp2 | a0001 | c0001 | t0001 | g0168 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18952 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18952 | hp2 | a0001 | c0007 | t0002 | g0292 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18953 | hp1 | a0001 | c0001 | t0002 | g0214 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18953 | hp2 | a0001 | c0001 | t0002 | g0244 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18954 | hp1 | a0001 | c0001 | t0002 | g0280 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18954 | hp2 | a0001 | c0001 | t0001 | g0008 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18956 | hp1 | a0001 | c0001 | t0002 | g0253 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18956 | hp2 | a0004 | c0003 | t0003 | g0016 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18957 | hp1 | a0001 | c0001 | t0001 | g0157 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18957 | hp2 | a0001 | c0001 | t0003 | g0356 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18962 | hp1 | a0001 | c0001 | t0002 | g0293 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18962 | hp2 | a0001 | c0001 | t0001 | g0082 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18963 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18963 | hp2 | a0001 | c0001 | t0001 | g0107 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18964 | hp1 | a0001 | c0001 | t0002 | g0247 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18964 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18965 | hp1 | a0001 | c0001 | t0002 | g0272 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18965 | hp2 | a0001 | c0001 | t0001 | g0190 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18966 | hp1 | a0001 | c0001 | t0002 | g0276 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18966 | hp2 | a0001 | c0001 | t0031 | g0047 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18969 | hp1 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18969 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18970 | hp1 | a0001 | c0001 | t0004 | g0217 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18970 | hp2 | a0001 | c0001 | t0002 | g0230 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18971 | hp1 | a0001 | c0001 | t0003 | g0338 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18971 | hp2 | a0001 | c0001 | t0001 | g0144 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18972 | hp1 | a0003 | c0004 | t0003 | g0347 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18972 | hp2 | a0001 | c0001 | t0001 | g0065 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18973 | hp1 | a0001 | c0001 | t0003 | g0355 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18973 | hp2 | a0001 | c0001 | t0001 | g0163 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18975 | hp1 | a0001 | c0001 | t0002 | g0268 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18975 | hp2 | a0001 | c0001 | t0002 | g0291 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18977 | hp1 | a0001 | c0001 | t0001 | g0113 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18977 | hp2 | a0001 | c0001 | t0002 | g0267 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18978 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18978 | hp2 | a0001 | c0001 | t0001 | g0123 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18980 | hp1 | a0001 | c0001 | t0001 | g0063 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18980 | hp2 | a0001 | c0001 | t0001 | g0192 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18981 | hp1 | a0001 | c0001 | t0002 | g0223 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18981 | hp2 | a0001 | c0001 | t0027 | g0354 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18983 | hp1 | a0001 | c0001 | t0001 | g0155 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18983 | hp2 | a0001 | c0001 | t0003 | g0357 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18984 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18984 | hp2 | a0001 | c0001 | t0003 | g0210 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18986 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18986 | hp2 | a0001 | c0001 | t0003 | g0209 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18987 | hp1 | a0001 | c0001 | t0003 | g0329 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18987 | hp2 | a0001 | c0001 | t0002 | g0215 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18988 | hp1 | a0001 | c0001 | t0002 | g0271 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18988 | hp2 | a0001 | c0001 | t0001 | g0062 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18989 | hp1 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18989 | hp2 | a0001 | c0001 | t0002 | g0262 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18991 | hp1 | a0001 | c0001 | t0001 | g0142 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18991 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18994 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18994 | hp2 | a0001 | c0001 | t0001 | g0064 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18995 | hp1 | a0001 | c0001 | t0001 | g0088 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18995 | hp2 | a0001 | c0001 | t0001 | g0139 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18997 | hp1 | a0004 | c0003 | t0003 | g0327 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18997 | hp2 | a0001 | c0001 | t0002 | g0255 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18998 | hp1 | a0001 | c0001 | t0002 | g0067 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18998 | hp2 | a0001 | c0001 | t0021 | g0369 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18999 | hp1 | a0001 | c0001 | t0002 | g0243 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA18999 | hp2 | a0001 | c0001 | t0001 | g0134 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19000 | hp1 | a0001 | c0001 | t0002 | g0265 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19000 | hp2 | a0001 | c0001 | t0003 | g0367 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19002 | hp1 | a0001 | c0001 | t0002 | g0149 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19002 | hp2 | a0001 | c0001 | t0002 | g0225 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19004 | hp1 | a0001 | c0001 | t0002 | g0219 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19004 | hp2 | a0001 | c0001 | t0001 | g0147 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0140 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19005 | hp2 | a0001 | c0001 | t0011 | g0323 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19007 | hp1 | a0001 | c0001 | t0002 | g0224 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19007 | hp2 | a0001 | c0001 | t0026 | g0017 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19009 | hp1 | a0001 | c0001 | t0002 | g0279 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19009 | hp2 | a0001 | c0001 | t0001 | g0132 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19010 | hp1 | a0001 | c0001 | t0001 | g0093 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19010 | hp2 | a0001 | c0001 | t0002 | g0239 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19011 | hp1 | a0001 | c0001 | t0001 | g0078 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19011 | hp2 | a0001 | c0001 | t0004 | g0301 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19012 | hp1 | a0001 | c0001 | t0002 | g0277 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19012 | hp2 | a0001 | c0001 | t0001 | g0159 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19030 | hp1 | a0001 | c0001 | t0003 | g0362 | AFR | LWK | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19030 | hp2 | a0001 | c0001 | t0009 | g0029 | AFR | LWK | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19043 | hp1 | a0001 | c0001 | t0001 | g0109 | AFR | LWK | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19043 | hp2 | a0001 | c0001 | t0006 | g0203 | AFR | LWK | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19054 | hp1 | a0001 | c0001 | t0003 | g0353 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19054 | hp2 | a0001 | c0001 | t0001 | g0119 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19057 | hp1 | a0001 | c0001 | t0001 | g0164 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19057 | hp2 | a0001 | c0001 | t0002 | g0095 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19062 | hp1 | a0001 | c0001 | t0001 | g0116 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19062 | hp2 | a0001 | c0001 | t0003 | g0336 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19066 | hp1 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19066 | hp2 | a0001 | c0001 | t0003 | g0017 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19068 | hp1 | a0001 | c0001 | t0011 | g0340 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19068 | hp2 | a0001 | c0001 | t0002 | g0273 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19074 | hp1 | a0004 | c0003 | t0003 | g0016 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19074 | hp2 | a0001 | c0001 | t0011 | g0334 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19077 | hp1 | a0001 | c0001 | t0003 | g0333 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19077 | hp2 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19080 | hp1 | a0001 | c0001 | t0001 | g0150 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19080 | hp2 | a0001 | c0001 | t0001 | g0058 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19081 | hp1 | a0001 | c0001 | t0002 | g0231 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19081 | hp2 | a0001 | c0001 | t0001 | g0154 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19082 | hp1 | a0008 | c0008 | t0003 | g0122 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19082 | hp2 | a0001 | c0001 | t0028 | g0126 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19083 | hp1 | a0001 | c0001 | t0001 | g0148 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19083 | hp2 | a0001 | c0001 | t0003 | g0208 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19084 | hp1 | a0001 | c0001 | t0001 | g0191 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19084 | hp2 | a0001 | c0001 | t0002 | g0228 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19085 | hp1 | a0001 | c0001 | t0001 | g0145 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19085 | hp2 | a0001 | c0001 | t0002 | g0294 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19086 | hp1 | a0001 | c0001 | t0001 | g0160 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19086 | hp2 | a0001 | c0001 | t0002 | g0269 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19087 | hp1 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19087 | hp2 | a0001 | c0001 | t0002 | g0241 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19088 | hp1 | a0001 | c0001 | t0002 | g0226 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19088 | hp2 | a0001 | c0001 | t0001 | g0105 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19089 | hp1 | a0001 | c0001 | t0002 | g0237 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19089 | hp2 | a0001 | c0001 | t0001 | g0072 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19091 | hp1 | a0001 | c0001 | t0001 | g0361 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA19091 | hp2 | a0001 | c0001 | t0002 | g0212 | EAS | JPT | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20129 | hp1 | a0001 | c0001 | t0001 | g0375 | AFR | ASW | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20129 | hp2 | a0001 | c0001 | t0001 | g0137 | AFR | ASW | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20752 | hp1 | a0001 | c0001 | t0001 | g0314 | EUR | TSI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20752 | hp2 | a0001 | c0001 | t0001 | g0001 | EUR | TSI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20805 | hp1 | a0001 | c0001 | t0002 | g0246 | EUR | TSI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20805 | hp2 | a0005 | c0006 | t0018 | g0284 | EUR | TSI | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20905 | hp1 | a0001 | c0001 | t0024 | g0337 | SAS | GIH | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20905 | hp2 | a0001 | c0001 | t0001 | g0068 | SAS | GIH | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01123 | hp1 | a0001 | c0001 | t0001 | g0104 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG01123 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | CLM | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02109 | hp1 | a0001 | c0001 | t0006 | g0033 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02109 | hp2 | a0001 | c0001 | t0002 | g0100 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02486 | hp1 | a0001 | c0001 | t0014 | g0043 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02486 | hp2 | a0001 | c0001 | t0002 | g0002 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02559 | hp1 | a0001 | c0001 | t0006 | g0032 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG02559 | hp2 | a0001 | c0001 | t0029 | g0313 | AFR | ACB | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03471 | hp1 | a0001 | c0001 | t0030 | g0298 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG03471 | hp2 | a0001 | c0001 | t0005 | g0173 | AFR | MSL | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG06807 | hp1 | a0001 | c0001 | t0001 | g0364 | AFR | USA | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| HG06807 | hp2 | a0001 | c0001 | t0002 | g0097 | AFR | USA | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20300 | hp1 | a0001 | c0001 | t0001 | g0089 | AFR | USA | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA20300 | hp2 | a0001 | c0001 | t0001 | g0156 | AFR | USA | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA21309 | hp1 | a0001 | c0001 | t0003 | g0349 | AFR | LWK | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| NA21309 | hp2 | a0001 | c0001 | t0002 | g0256 | AFR | LWK | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0059 | REF | REF | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| homoSapiens | grch38p0 | a0001 | c0001 | t0004 | g0309 | REF | REF | PMM2_chr16_8792839_8854325 | PMM2 | chr16 | 8792839 | 8854325 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:8801822 | C | G | 1 | a0006 | 1 | HG02683.hp2 | missense_variant | MODERATE | c.90C>G | p.Asp30Glu | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/8 | 134/2285 | 90/741 | 30/246 | chr16 | 8801822 | |||
| chr16:8801842 | A | T | 1 | a0003 | 4 | HG00423.hp2 NA18949.hp1 NA18950.hp2 others(1): Show |
missense_variant | MODERATE | c.110A>T | p.Gln37Leu | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/8 | 154/2285 | 110/741 | 37/246 | chr16 | 8801842 | |||
| chr16:8811153 | G | A | 1 | a0005 | 2 | HG01261.hp1 NA20805.hp2 |
missense_variant | MODERATE | c.422G>A | p.Arg141His | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/8 | 466/2285 | 422/741 | 141/246 | chr16 | 8811153 | |||
| chr16:8811161 | T | C | 1 | a0008 | 1 | NA19082.hp1 | missense_variant | MODERATE | c.430T>C | p.Phe144Leu | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/8 | 474/2285 | 430/741 | 144/246 | chr16 | 8811161 | |||
| chr16:8813057 | A | C | 1 | a0002 | 5 | HG00639.hp2 HG01069.hp1 HG01257.hp1 others(2): Show |
missense_variant | MODERATE | c.590A>C | p.Glu197Ala | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/8 | 634/2285 | 590/741 | 197/246 | chr16 | 8813057 | |||
| chr16:8813101 | A | G | 1 | a0004 | 4 | NA18948.hp2 NA18956.hp2 NA18997.hp1 others(1): Show |
missense_variant | MODERATE | c.634A>G | p.Met212Val | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/8 | 678/2285 | 634/741 | 212/246 | chr16 | 8813101 | |||
| chr16:8847796 | C | T | 1 | a0007 | 1 | HG03831.hp2 | missense_variant | MODERATE | c.712C>T | p.Arg238Cys | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 756/2285 | 712/741 | 238/246 | chr16 | 8847796 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:8801825 | C | T | 1 | a0001c0010 | 1 | HG02965.hp2 | synonymous_variant | LOW | c.93C>T | p.Phe31Phe | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/8 | 137/2285 | 93/741 | 31/246 | chr16 | 8801825 | |||
| chr16:8804843 | G | A | 1 | a0001c0007 | 1 | NA18952.hp2 | splice_region_variant&synonymous_variant | LOW | c.255G>A | p.Gln85Gln | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/8 | 299/2285 | 255/741 | 85/246 | chr16 | 8804843 | |||
| chr16:8806384 | G | A | 1 | a0001c0005 | 2 | HG01081.hp1 HG01358.hp1 |
synonymous_variant | LOW | c.324G>A | p.Ala108Ala | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/8 | 368/2285 | 324/741 | 108/246 | chr16 | 8806384 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:8847842 | G | A | 1 | a0001c0001t0015 | 2 | HG02630.hp2 HG02970.hp1 |
3_prime_UTR_variant | MODIFIER | c.*17G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 17 | chr16 | 8847842 | ||||||
| chr16:8847877 | C | T | 1 | a0001c0001t0040 | 1 | HG01256.hp2 | 3_prime_UTR_variant | MODIFIER | c.*52C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 52 | chr16 | 8847877 | ||||||
| chr16:8847889 | C | A | 1 | a0001c0001t0021 | 1 | NA18998.hp2 | 3_prime_UTR_variant | MODIFIER | c.*64C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 64 | chr16 | 8847889 | ||||||
| chr16:8847921 | G | C | 13 | a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 others(10): Show |
75 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(72): Show |
3_prime_UTR_variant | MODIFIER | c.*96G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 96 | chr16 | 8847921 | ||||||
| chr16:8847961 | A | C | 10 | a0001c0001t0002 a0001c0001t0015 a0001c0001t0020 others(7): Show |
109 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(106): Show |
3_prime_UTR_variant | MODIFIER | c.*136A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 136 | chr16 | 8847961 | ||||||
| chr16:8847991 | C | G | 1 | a0001c0001t0010 | 5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*166C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 166 | chr16 | 8847991 | ||||||
| chr16:8848000 | G | A | 11 | a0001c0001t0002 a0001c0001t0015 a0001c0001t0016 others(8): Show |
111 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(108): Show |
3_prime_UTR_variant | MODIFIER | c.*175G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 175 | chr16 | 8848000 | ||||||
| chr16:8848012 | C | G | 1 | a0001c0001t0027 | 1 | NA18981.hp2 | 3_prime_UTR_variant | MODIFIER | c.*187C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 187 | chr16 | 8848012 | ||||||
| chr16:8848077 | C | A | 12 | a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(9): Show |
159 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(156): Show |
3_prime_UTR_variant | MODIFIER | c.*252C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 252 | chr16 | 8848077 | ||||||
| chr16:8848100 | A | T | 1 | a0001c0001t0031 | 1 | NA18966.hp2 | 3_prime_UTR_variant | MODIFIER | c.*275A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 275 | chr16 | 8848100 | ||||||
| chr16:8848171 | T | G | 1 | a0001c0001t0035 | 1 | HG04204.hp1 | 3_prime_UTR_variant | MODIFIER | c.*346T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 346 | chr16 | 8848171 | ||||||
| chr16:8848175 | C | T | 1 | a0001c0001t0039 | 1 | HG02965.hp1 | 3_prime_UTR_variant | MODIFIER | c.*350C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 350 | chr16 | 8848175 | ||||||
| chr16:8848216 | T | G | 1 | a0001c0001t0022 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*391T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 391 | chr16 | 8848216 | ||||||
| chr16:8848317 | C | G | 1 | a0001c0001t0038 | 1 | HG00323.hp1 | 3_prime_UTR_variant | MODIFIER | c.*492C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 492 | chr16 | 8848317 | ||||||
| chr16:8848358 | G | A | 1 | a0001c0001t0039 | 1 | HG02965.hp1 | 3_prime_UTR_variant | MODIFIER | c.*533G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 533 | chr16 | 8848358 | ||||||
| chr16:8848359 | G | A | 1 | a0001c0001t0009 | 5 | HG02145.hp1 HG02717.hp1 HG02896.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*534G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 534 | chr16 | 8848359 | ||||||
| chr16:8848385 | A | G | 7 | a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 others(4): Show |
24 | HG01346.hp1 HG01891.hp2 HG02109.hp1 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*560A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 560 | chr16 | 8848385 | ||||||
| chr16:8848552 | C | T | 1 | a0001c0001t0026 | 1 | NA19007.hp2 | 3_prime_UTR_variant | MODIFIER | c.*727C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 727 | chr16 | 8848552 | ||||||
| chr16:8848616 | G | C | 46 | a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(43): Show |
382 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(379): Show |
3_prime_UTR_variant | MODIFIER | c.*791G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 791 | chr16 | 8848616 | ||||||
| chr16:8848654 | A | G | 1 | a0001c0001t0030 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*829A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 829 | chr16 | 8848654 | ||||||
| chr16:8848721 | G | A | 1 | a0001c0001t0011 | 3 | NA19005.hp2 NA19068.hp1 NA19074.hp2 |
3_prime_UTR_variant | MODIFIER | c.*896G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 896 | chr16 | 8848721 | ||||||
| chr16:8848740 | T | A | 1 | a0001c0001t0013 | 3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
3_prime_UTR_variant | MODIFIER | c.*915T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 915 | chr16 | 8848740 | ||||||
| chr16:8848819 | A | T | 1 | a0001c0001t0007 | 5 | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*994A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 994 | chr16 | 8848819 | ||||||
| chr16:8848822 | A | G | 15 | a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(12): Show |
126 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(123): Show |
3_prime_UTR_variant | MODIFIER | c.*997A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 997 | chr16 | 8848822 | ||||||
| chr16:8848857 | C | A | 2 | a0001c0001t0015 a0001c0001t0020 |
4 | HG02630.hp1 HG02630.hp2 HG02647.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1032C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1032 | chr16 | 8848857 | ||||||
| chr16:8848888 | C | T | 1 | a0001c0001t0024 | 1 | NA20905.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1063C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1063 | chr16 | 8848888 | ||||||
| chr16:8848961 | T | C | 1 | a0001c0001t0033 | 1 | HG01346.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1136T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1136 | chr16 | 8848961 | ||||||
| chr16:8849049 | C | A | 2 | a0001c0001t0012 a0001c0001t0030 |
4 | HG02717.hp2 HG02723.hp1 HG02922.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1224C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1224 | chr16 | 8849049 | ||||||
| chr16:8849049 | C | T | 2 | a0001c0001t0014 a0001c0001t0034 |
4 | HG02257.hp2 HG02486.hp1 HG02886.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1224C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1224 | chr16 | 8849049 | ||||||
| chr16:8849084 | C | G | 1 | a0001c0001t0019 | 2 | HG01106.hp2 HG01109.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1259C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1259 | chr16 | 8849084 | ||||||
| chr16:8849170 | T | C | 1 | a0001c0001t0028 | 1 | NA19082.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1345T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1345 | chr16 | 8849170 | ||||||
| chr16:8849173 | A | G | 1 | a0001c0001t0033 | 1 | HG01346.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1348A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1348 | chr16 | 8849173 | ||||||
| chr16:8849185 | C | T | 1 | a0001c0001t0037 | 1 | HG00733.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1360C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1360 | chr16 | 8849185 | ||||||
| chr16:8849188 | G | A | 1 | a0002c0002t0036 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1363G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1363 | chr16 | 8849188 | ||||||
| chr16:8849220 | C | G | 1 | a0001c0001t0034 | 1 | HG03486.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1395C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1395 | chr16 | 8849220 | ||||||
| chr16:8849249 | C | T | 1 | a0001c0001t0032 | 1 | HG02818.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1424C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1424 | chr16 | 8849249 | ||||||
| chr16:8849259 | C | A | 1 | a0001c0001t0023 | 1 | HG03834.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1434C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 8/8 | 1434 | chr16 | 8849259 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr16:8798067 | C | T | 4 | a0001c0001t0008g0023 a0001c0001t0008g0378 a0001c0001t0008g0379 others(1): Show |
5 | HG00741.hp2 HG01257.hp2 HG01346.hp2 others(2): Show |
intron_variant | MODIFIER | c.66+119C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798067 | |||||||
| chr16:8798128 | G | C | 21 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(18): Show |
22 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.66+180G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798128 | |||||||
| chr16:8798157 | C | T | 75 | a0001c0001t0001g0021 a0001c0001t0001g0312 a0001c0001t0001g0314 others(72): Show |
80 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(77): Show |
intron_variant | MODIFIER | c.66+209C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798157 | |||||||
| chr16:8798288 | T | C | 357 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(354): Show |
378 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(375): Show |
intron_variant | MODIFIER | c.66+340T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798288 | |||||||
| chr16:8798291 | G | A | 1 | a0001c0001t0001g0044 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.66+343G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798291 | |||||||
| chr16:8798297 | A | G | 105 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0195 others(102): Show |
108 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.66+349A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798297 | |||||||
| chr16:8798318 | G | A | 11 | a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0316 others(8): Show |
11 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.66+370G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798318 | |||||||
| chr16:8798507 | G | T | 3 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | NA18965.hp2 NA18980.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.66+559G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798507 | |||||||
| chr16:8798523 | T | C | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.66+575T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798523 | |||||||
| chr16:8798570 | A | C | 93 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0212 others(90): Show |
96 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(93): Show |
intron_variant | MODIFIER | c.66+622A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798570 | |||||||
| chr16:8798614 | C | T | 97 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0212 others(94): Show |
100 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(97): Show |
intron_variant | MODIFIER | c.66+666C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798614 | |||||||
| chr16:8798655 | C | T | 1 | a0002c0002t0002g0200 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.66+707C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798655 | |||||||
| chr16:8798744 | G | T | 1 | a0001c0001t0003g0377 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.66+796G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798744 | |||||||
| chr16:8798765 | A | G | 1 | a0001c0001t0001g0189 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.66+817A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798765 | |||||||
| chr16:8798820 | A | G | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.66+872A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798820 | |||||||
| chr16:8798981 | G | C | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.66+1033G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8798981 | |||||||
| chr16:8799079 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.66+1131G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799079 | |||||||
| chr16:8799270 | T | C | 1 | a0001c0001t0001g0046 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.66+1322T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799270 | |||||||
| chr16:8799285 | A | G | 4 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(1): Show |
4 | HG01346.hp1 HG02257.hp2 HG02486.hp1 others(1): Show |
intron_variant | MODIFIER | c.66+1337A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799285 | |||||||
| chr16:8799464 | CT | C | 4 | a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 others(1): Show |
4 | HG02135.hp2 NA18984.hp2 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.66+1517delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799464 | |||||||
| chr16:8799531 | T | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.66+1583T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799531 | |||||||
| chr16:8799551 | CTCTT | C | 96 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0213 others(93): Show |
99 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(96): Show |
intron_variant | MODIFIER | c.66+1605_66+1608del others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8799551 | ||||||
| chr16:8799553 | C | CT | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.66+1618dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8799553 | ||||||
| chr16:8799553 | CT | C | 12 | a0001c0001t0001g0006 a0001c0001t0001g0183 a0001c0001t0003g0054 others(9): Show |
13 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(10): Show |
intron_variant | MODIFIER | c.66+1618delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8799553 | ||||||
| chr16:8799571 | CAG | C | 6 | a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 others(3): Show |
6 | HG02056.hp1 HG02129.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.66+1626_66+1627del others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8799571 | ||||||
| chr16:8799683 | T | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.66+1735T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799683 | |||||||
| chr16:8799758 | G | C | 8 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(5): Show |
9 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.66+1810G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799758 | |||||||
| chr16:8799867 | T | C | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.66+1919T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799867 | |||||||
| chr16:8799935 | C | G | 6 | a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 others(3): Show |
6 | HG02056.hp1 HG02129.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.67-1864C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799935 | |||||||
| chr16:8799979 | G | A | 18 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(15): Show |
19 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(16): Show |
intron_variant | MODIFIER | c.67-1820G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8799979 | |||||||
| chr16:8800056 | A | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.67-1743A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800056 | |||||||
| chr16:8800070 | G | A | 1 | a0001c0001t0001g0312 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.67-1729G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800070 | |||||||
| chr16:8800081 | G | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67-1718G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800081 | |||||||
| chr16:8800175 | A | G | 9 | a0001c0001t0001g0010 a0001c0001t0001g0181 a0001c0001t0001g0182 others(6): Show |
10 | HG00738.hp1 HG01069.hp2 HG01071.hp2 others(7): Show |
intron_variant | MODIFIER | c.67-1624A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800175 | |||||||
| chr16:8800222 | A | G | 4 | a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 others(1): Show |
4 | HG00639.hp1 HG02735.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.67-1577A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800222 | |||||||
| chr16:8800303 | A | G | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.67-1496A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800303 | |||||||
| chr16:8800350 | G | A | 3 | a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0031g0047 |
3 | NA18942.hp2 NA18953.hp1 NA18966.hp2 |
intron_variant | MODIFIER | c.67-1449G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800350 | |||||||
| chr16:8800360 | CA | C | 342 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(339): Show |
362 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(359): Show |
intron_variant | MODIFIER | c.67-1422delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8800360 | ||||||
| chr16:8800406 | T | A | 1 | a0001c0001t0006g0203 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.67-1393T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800406 | |||||||
| chr16:8800541 | C | G | 18 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(15): Show |
18 | HG01192.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.67-1258C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800541 | |||||||
| chr16:8800600 | A | ATCT | 4 | a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 others(1): Show |
4 | HG02135.hp2 NA18984.hp2 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.67-1197_67-1195dup others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8800600 | ||||||
| chr16:8800665 | CT | C | 328 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(325): Show |
349 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(346): Show |
intron_variant | MODIFIER | c.67-1118delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8800665 | ||||||
| chr16:8800672 | T | TTTTG | 7 | a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 others(4): Show |
7 | HG02145.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.67-1124_67-1123ins others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr16 | 8800672 | ||||||
| chr16:8800676 | T | G | 8 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(5): Show |
8 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.67-1123T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800676 | |||||||
| chr16:8800677 | T | G | 19 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(16): Show |
20 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(17): Show |
intron_variant | MODIFIER | c.67-1122T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800677 | |||||||
| chr16:8800682 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.67-1117G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800682 | |||||||
| chr16:8800776 | C | T | 1 | a0001c0001t0009g0030 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.67-1023C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800776 | |||||||
| chr16:8800830 | C | T | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67-969C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800830 | |||||||
| chr16:8800841 | G | C | 1 | a0001c0001t0001g0049 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.67-958G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800841 | |||||||
| chr16:8800848 | T | C | 1 | a0001c0001t0003g0050 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.67-951T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800848 | |||||||
| chr16:8800899 | A | G | 21 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(18): Show |
22 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(19): Show |
intron_variant | MODIFIER | c.67-900A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800899 | |||||||
| chr16:8800913 | C | A | 1 | a0001c0001t0011g0323 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.67-886C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800913 | |||||||
| chr16:8800934 | C | T | 3 | a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0029 |
3 | HG02145.hp1 HG03098.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.67-865C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800934 | |||||||
| chr16:8800982 | C | T | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.67-817C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8800982 | |||||||
| chr16:8801004 | A | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.67-795A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801004 | |||||||
| chr16:8801131 | C | G | 22 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(19): Show |
23 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(20): Show |
intron_variant | MODIFIER | c.67-668C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801131 | |||||||
| chr16:8801133 | A | C | 1 | a0001c0001t0001g0375 | 1 | NA20129.hp1 | intron_variant | MODIFIER | c.67-666A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801133 | |||||||
| chr16:8801140 | C | G | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.67-659C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801140 | |||||||
| chr16:8801206 | G | T | 1 | a0001c0001t0001g0168 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.67-593G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801206 | |||||||
| chr16:8801319 | C | T | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.67-480C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801319 | |||||||
| chr16:8801375 | A | G | 8 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(5): Show |
8 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.67-424A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801375 | |||||||
| chr16:8801499 | A | T | 349 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(346): Show |
370 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(367): Show |
intron_variant | MODIFIER | c.67-300A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801499 | |||||||
| chr16:8801507 | C | G | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.67-292C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801507 | |||||||
| chr16:8801577 | A | T | 2 | a0001c0001t0005g0171 a0001c0001t0005g0172 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.67-222A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801577 | |||||||
| chr16:8801679 | A | T | 20 | a0001c0001t0001g0167 a0001c0001t0006g0031 a0001c0001t0006g0032 others(17): Show |
21 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(18): Show |
intron_variant | MODIFIER | c.67-120A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801679 | |||||||
| chr16:8801680 | T | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.67-119T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 1/7 | chr16 | 8801680 | |||||||
| chr16:8801931 | T | G | 2 | a0001c0001t0003g0050 a0001c0001t0003g0051 |
2 | HG02622.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.178+21T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8801931 | |||||||
| chr16:8802052 | C | A | 98 | a0001c0001t0001g0052 a0001c0001t0002g0012 a0001c0001t0002g0013 others(95): Show |
101 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(98): Show |
intron_variant | MODIFIER | c.178+142C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802052 | |||||||
| chr16:8802209 | G | C | 210 | a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0057 others(207): Show |
219 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(216): Show |
intron_variant | MODIFIER | c.178+299G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802209 | |||||||
| chr16:8802236 | G | A | 1 | a0001c0001t0004g0295 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.178+326G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802236 | |||||||
| chr16:8802237 | G | A | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
157 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(154): Show |
intron_variant | MODIFIER | c.178+327G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802237 | |||||||
| chr16:8802243 | A | C | 1 | a0001c0001t0001g0166 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.178+333A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802243 | |||||||
| chr16:8802352 | G | C | 8 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(5): Show |
8 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.178+442G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802352 | |||||||
| chr16:8802392 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.178+482G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802392 | |||||||
| chr16:8802423 | T | G | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.178+513T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802423 | |||||||
| chr16:8802503 | C | G | 2 | a0001c0001t0015g0319 a0001c0001t0015g0320 |
2 | HG02630.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.178+593C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802503 | |||||||
| chr16:8802572 | T | G | 1 | a0001c0001t0002g0060 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.178+662T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802572 | |||||||
| chr16:8802671 | C | A | 11 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(8): Show |
12 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(9): Show |
intron_variant | MODIFIER | c.178+761C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802671 | |||||||
| chr16:8802671 | C | G | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.178+761C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802671 | |||||||
| chr16:8802832 | G | GA | 271 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(268): Show |
287 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(284): Show |
intron_variant | MODIFIER | c.178+935dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8802832 | ||||||
| chr16:8802832 | G | GAA | 83 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 others(80): Show |
88 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.178+934_178+935dup others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8802832 | ||||||
| chr16:8802872 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.178+962A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802872 | |||||||
| chr16:8802927 | T | C | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.178+1017T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802927 | |||||||
| chr16:8802929 | T | A | 1 | a0001c0001t0001g0061 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.178+1019T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8802929 | |||||||
| chr16:8803005 | A | G | 1 | a0001c0001t0002g0282 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.178+1095A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803005 | |||||||
| chr16:8803074 | A | C | 77 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(74): Show |
81 | HG00280.hp1 HG00323.hp1 HG00544.hp2 others(78): Show |
intron_variant | MODIFIER | c.178+1164A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803074 | |||||||
| chr16:8803106 | C | T | 1 | a0001c0001t0006g0203 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.178+1196C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803106 | |||||||
| chr16:8803151 | A | G | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.178+1241A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803151 | |||||||
| chr16:8803317 | A | G | 4 | a0001c0001t0003g0022 a0001c0001t0003g0373 a0001c0001t0003g0374 others(1): Show |
5 | HG01074.hp1 HG01175.hp2 HG01515.hp1 others(2): Show |
intron_variant | MODIFIER | c.178+1407A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803317 | |||||||
| chr16:8803517 | C | T | 1 | a0001c0001t0001g0112 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.179-1250C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803517 | |||||||
| chr16:8803554 | C | T | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.179-1213C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803554 | |||||||
| chr16:8803613 | A | G | 1 | a0001c0001t0002g0371 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.179-1154A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803613 | |||||||
| chr16:8803685 | A | T | 1 | a0001c0001t0002g0280 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.179-1082A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803685 | |||||||
| chr16:8803686 | T | A | 1 | a0001c0001t0002g0280 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.179-1081T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803686 | |||||||
| chr16:8803759 | C | G | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.179-1008C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803759 | |||||||
| chr16:8803760 | T | C | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.179-1007T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803760 | |||||||
| chr16:8803766 | C | T | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.179-1001C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803766 | |||||||
| chr16:8803784 | A | C | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.179-983A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803784 | |||||||
| chr16:8803815 | C | T | 18 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(15): Show |
18 | HG01192.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.179-952C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803815 | |||||||
| chr16:8803828 | C | T | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.179-939C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803828 | |||||||
| chr16:8803978 | C | G | 1 | a0001c0001t0002g0279 | 1 | NA19009.hp1 | intron_variant | MODIFIER | c.179-789C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8803978 | |||||||
| chr16:8804014 | T | G | 2 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | HG01891.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.179-753T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804014 | |||||||
| chr16:8804020 | GGGTTTTT others(3): Show |
G | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.179-745_179-736del others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804020 | ||||||
| chr16:8804021 | G | GTGTTTTT others(3): Show |
1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.179-746_179-745ins others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804021 | |||||||
| chr16:8804021 | GGT | G | 3 | a0001c0001t0009g0027 a0001c0001t0019g0005 a0001c0001t0033g0039 |
3 | HG01109.hp2 HG01346.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.179-745_179-744del others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804021 | |||||||
| chr16:8804021 | GGTT | G | 6 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(3): Show |
6 | HG01106.hp2 HG02109.hp1 HG02145.hp1 others(3): Show |
intron_variant | MODIFIER | c.179-745_179-743del others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804021 | |||||||
| chr16:8804021 | GGTTT | G | 5 | a0001c0001t0009g0026 a0001c0001t0009g0030 a0001c0001t0017g0024 others(2): Show |
5 | HG02717.hp1 HG02809.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.179-745_179-742del others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804021 | |||||||
| chr16:8804021 | GGTTTTTT others(4): Show |
G | 7 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(4): Show |
7 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.179-745_179-735del others(11): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804021 | |||||||
| chr16:8804022 | G | T | 6 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(3): Show |
6 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.179-745G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804022 | |||||||
| chr16:8804024 | T | TTTTTTTG | 125 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(122): Show |
135 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(132): Show |
intron_variant | MODIFIER | c.179-736_179-730dup others(7): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804024 | ||||||
| chr16:8804026 | T | G | 2 | a0001c0001t0010g0036 a0001c0001t0010g0037 |
2 | HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.179-741T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804026 | |||||||
| chr16:8804030 | T | G | 1 | a0001c0001t0014g0041 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.179-737T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804030 | |||||||
| chr16:8804031 | G | GTTTTTTG others(1): Show |
17 | a0001c0001t0001g0008 a0001c0001t0001g0065 a0001c0001t0001g0066 others(14): Show |
18 | HG00673.hp1 HG00673.hp2 HG02148.hp1 others(15): Show |
intron_variant | MODIFIER | c.179-730_179-729ins others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804031 | ||||||
| chr16:8804031 | G | GTTTTTTT others(3): Show |
5 | a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0003g0321 others(2): Show |
5 | HG01255.hp2 HG02559.hp2 HG02683.hp2 others(2): Show |
intron_variant | MODIFIER | c.179-725_179-716dup others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804031 | ||||||
| chr16:8804031 | G | GTTTTTTT others(4): Show |
3 | a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 |
3 | HG02273.hp2 HG02280.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.179-726_179-716dup others(11): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804031 | ||||||
| chr16:8804031 | G | GTTTTTTT others(6): Show |
1 | a0001c0001t0015g0319 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.179-728_179-716dup others(13): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804031 | ||||||
| chr16:8804031 | G | GTTTTTTT others(7): Show |
1 | a0001c0001t0015g0320 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.179-729_179-716dup others(14): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804031 | ||||||
| chr16:8804031 | G | T | 22 | a0001c0001t0001g0111 a0001c0001t0006g0031 a0001c0001t0006g0032 others(19): Show |
23 | HG01106.hp2 HG01109.hp2 HG01175.hp1 others(20): Show |
intron_variant | MODIFIER | c.179-736G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804031 | |||||||
| chr16:8804033 | T | G | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.179-734T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804033 | |||||||
| chr16:8804033 | T | TTTTTTTG | 6 | a0001c0001t0001g0375 a0001c0001t0003g0367 a0001c0001t0003g0368 others(3): Show |
6 | HG02735.hp1 NA18950.hp2 NA18998.hp2 others(3): Show |
intron_variant | MODIFIER | c.179-728_179-727ins others(7): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804033 | ||||||
| chr16:8804034 | T | G | 7 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(4): Show |
7 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.179-733T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804034 | |||||||
| chr16:8804034 | T | TTTTTTG | 63 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0361 others(60): Show |
68 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(65): Show |
intron_variant | MODIFIER | c.179-728_179-727ins others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804034 | ||||||
| chr16:8804038 | T | G | 3 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 |
3 | NA18980.hp1 NA18988.hp2 NA18994.hp2 |
intron_variant | MODIFIER | c.179-729T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804038 | |||||||
| chr16:8804039 | T | G | 1 | a0001c0001t0001g0125 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.179-728T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804039 | |||||||
| chr16:8804039 | T | TTTTTTG | 88 | a0001c0001t0001g0052 a0001c0001t0002g0012 a0001c0001t0002g0013 others(85): Show |
91 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(88): Show |
intron_variant | MODIFIER | c.179-723_179-722ins others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804039 | ||||||
| chr16:8804040 | T | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.179-727T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804040 | |||||||
| chr16:8804045 | T | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.179-722T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804045 | |||||||
| chr16:8804057 | T | A | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.179-710T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804057 | |||||||
| chr16:8804241 | A | G | 26 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(23): Show |
26 | HG01192.hp2 HG01891.hp2 HG02109.hp1 others(23): Show |
intron_variant | MODIFIER | c.179-526A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804241 | |||||||
| chr16:8804280 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.179-487A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804280 | |||||||
| chr16:8804324 | G | A | 3 | a0004c0003t0003g0016 a0004c0003t0003g0326 a0004c0003t0003g0327 |
4 | NA18948.hp2 NA18956.hp2 NA18997.hp1 others(1): Show |
intron_variant | MODIFIER | c.179-443G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804324 | |||||||
| chr16:8804490 | TACAG | T | 3 | a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0164 |
3 | NA18978.hp2 NA19057.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.179-272_179-269del others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804490 | ||||||
| chr16:8804581 | C | G | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.179-186C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804581 | |||||||
| chr16:8804601 | A | G | 71 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 others(68): Show |
76 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.179-166A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804601 | |||||||
| chr16:8804609 | C | A | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.179-158C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804609 | |||||||
| chr16:8804693 | C | T | 2 | a0001c0001t0001g0124 a0001c0001t0001g0164 |
2 | NA19057.hp1 NA19087.hp1 |
intron_variant | MODIFIER | c.179-74C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | chr16 | 8804693 | |||||||
| chr16:8804745 | G | GT | 18 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(15): Show |
18 | HG01192.hp2 HG02109.hp1 HG02145.hp1 others(15): Show |
intron_variant | MODIFIER | c.179-15dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr16 | 8804745 | ||||||
| chr16:8804913 | A | G | 1 | a0001c0001t0001g0163 | 1 | NA18973.hp2 | intron_variant | MODIFIER | c.255+70A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8804913 | |||||||
| chr16:8804946 | G | T | 1 | a0001c0001t0002g0275 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.255+103G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8804946 | |||||||
| chr16:8804954 | A | T | 8 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(5): Show |
9 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(6): Show |
intron_variant | MODIFIER | c.255+111A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8804954 | |||||||
| chr16:8804996 | A | G | 3 | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 |
3 | HG02280.hp2 HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.255+153A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8804996 | |||||||
| chr16:8805022 | T | G | 1 | a0001c0001t0001g0181 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.255+179T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805022 | |||||||
| chr16:8805029 | T | C | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.255+186T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805029 | |||||||
| chr16:8805115 | C | T | 8 | a0001c0001t0001g0021 a0001c0001t0001g0363 a0001c0001t0001g0364 others(5): Show |
9 | HG01891.hp1 HG02723.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.255+272C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805115 | |||||||
| chr16:8805121 | G | A | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.255+278G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805121 | |||||||
| chr16:8805166 | C | T | 1 | a0001c0001t0002g0280 | 1 | NA18954.hp1 | intron_variant | MODIFIER | c.255+323C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805166 | |||||||
| chr16:8805179 | C | T | 1 | a0001c0001t0001g0048 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.255+336C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805179 | |||||||
| chr16:8805259 | G | C | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.255+416G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805259 | |||||||
| chr16:8805270 | G | A | 1 | a0002c0002t0002g0193 | 1 | HG01361.hp2 | intron_variant | MODIFIER | c.255+427G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805270 | |||||||
| chr16:8805377 | TG | T | 3 | a0001c0001t0001g0361 a0001c0001t0002g0274 a0001c0001t0005g0179 |
3 | HG02015.hp2 HG02897.hp2 NA19091.hp1 |
intron_variant | MODIFIER | c.255+535delG | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805377 | |||||||
| chr16:8805378 | G | T | 353 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(350): Show |
374 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(371): Show |
intron_variant | MODIFIER | c.255+535G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805378 | |||||||
| chr16:8805383 | A | T | 139 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(136): Show |
151 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.255+540A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805383 | |||||||
| chr16:8805501 | A | C | 318 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(315): Show |
338 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(335): Show |
intron_variant | MODIFIER | c.255+658A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805501 | |||||||
| chr16:8805533 | A | C | 3 | a0001c0001t0001g0057 a0001c0001t0003g0359 a0007c0009t0003g0360 |
3 | HG03239.hp2 HG03831.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.255+690A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805533 | |||||||
| chr16:8805585 | CA | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.256-730delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805585 | |||||||
| chr16:8805586 | AT | A | 27 | a0001c0001t0001g0151 a0001c0001t0002g0002 a0001c0001t0002g0188 others(24): Show |
29 | HG00738.hp2 HG00741.hp1 HG01106.hp2 others(26): Show |
intron_variant | MODIFIER | c.256-719delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr16 | 8805586 | ||||||
| chr16:8805587 | T | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.256-729T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805587 | |||||||
| chr16:8805621 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.256-695A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805621 | |||||||
| chr16:8805762 | G | A | 10 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(7): Show |
10 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.256-554G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805762 | |||||||
| chr16:8805816 | A | G | 1 | a0001c0001t0001g0162 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.256-500A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805816 | |||||||
| chr16:8805966 | C | T | 1 | a0001c0001t0001g0167 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.256-350C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8805966 | |||||||
| chr16:8806096 | A | T | 4 | a0001c0001t0002g0212 a0001c0001t0002g0271 a0001c0001t0002g0272 others(1): Show |
4 | NA18965.hp1 NA18988.hp1 NA19068.hp2 others(1): Show |
intron_variant | MODIFIER | c.256-220A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8806096 | |||||||
| chr16:8806272 | A | G | 1 | a0006c0011t0001g0315 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.256-44A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 3/7 | chr16 | 8806272 | |||||||
| chr16:8806432 | C | T | 2 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | HG01891.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.347+25C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8806432 | |||||||
| chr16:8806447 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.347+40G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8806447 | |||||||
| chr16:8806449 | G | A | 1 | a0001c0001t0001g0068 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.347+42G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8806449 | |||||||
| chr16:8806579 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.347+172C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8806579 | |||||||
| chr16:8806935 | T | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.347+528T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8806935 | |||||||
| chr16:8806958 | C | T | 97 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(94): Show |
100 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(97): Show |
intron_variant | MODIFIER | c.347+551C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8806958 | |||||||
| chr16:8807041 | C | T | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.347+634C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807041 | |||||||
| chr16:8807141 | C | T | 10 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(7): Show |
10 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(7): Show |
intron_variant | MODIFIER | c.347+734C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807141 | |||||||
| chr16:8807163 | A | AT | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
157 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.347+771dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8807163 | ||||||
| chr16:8807163 | A | ATT | 114 | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 others(111): Show |
117 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(114): Show |
intron_variant | MODIFIER | c.347+770_347+771dup others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8807163 | ||||||
| chr16:8807163 | A | ATTT | 75 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 others(72): Show |
80 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(77): Show |
intron_variant | MODIFIER | c.347+769_347+771dup others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8807163 | ||||||
| chr16:8807163 | A | ATTTT | 11 | a0001c0001t0001g0361 a0001c0001t0003g0353 a0001c0001t0003g0355 others(8): Show |
12 | HG01106.hp2 HG01109.hp2 HG02015.hp1 others(9): Show |
intron_variant | MODIFIER | c.347+768_347+771dup others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8807163 | ||||||
| chr16:8807224 | A | C | 3 | a0001c0001t0003g0022 a0001c0001t0003g0373 a0001c0001t0003g0374 |
4 | HG01074.hp1 HG01175.hp2 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.347+817A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807224 | |||||||
| chr16:8807227 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.347+820G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807227 | |||||||
| chr16:8807254 | A | G | 358 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(355): Show |
379 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(376): Show |
intron_variant | MODIFIER | c.347+847A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807254 | |||||||
| chr16:8807285 | G | T | 1 | a0001c0001t0035g0270 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.347+878G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807285 | |||||||
| chr16:8807297 | T | G | 329 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(326): Show |
350 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(347): Show |
intron_variant | MODIFIER | c.347+890T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807297 | |||||||
| chr16:8807371 | C | T | 3 | a0001c0001t0001g0057 a0001c0001t0003g0359 a0007c0009t0003g0360 |
3 | HG03239.hp2 HG03831.hp2 HG03927.hp2 |
intron_variant | MODIFIER | c.347+964C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807371 | |||||||
| chr16:8807374 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.347+967C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807374 | |||||||
| chr16:8807383 | C | A | 325 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(322): Show |
346 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(343): Show |
intron_variant | MODIFIER | c.347+976C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807383 | |||||||
| chr16:8807426 | G | A | 328 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(325): Show |
349 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(346): Show |
intron_variant | MODIFIER | c.347+1019G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807426 | |||||||
| chr16:8807487 | G | GT | 328 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(325): Show |
349 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(346): Show |
intron_variant | MODIFIER | c.347+1086dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8807487 | ||||||
| chr16:8807675 | T | C | 1 | a0001c0001t0001g0069 | 1 | HG00642.hp1 | intron_variant | MODIFIER | c.347+1268T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807675 | |||||||
| chr16:8807695 | G | A | 327 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(324): Show |
348 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(345): Show |
intron_variant | MODIFIER | c.347+1288G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807695 | |||||||
| chr16:8807844 | T | C | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.347+1437T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807844 | |||||||
| chr16:8807875 | A | C | 347 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(344): Show |
368 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(365): Show |
intron_variant | MODIFIER | c.347+1468A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807875 | |||||||
| chr16:8807899 | G | A | 1 | a0001c0001t0009g0030 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.347+1492G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807899 | |||||||
| chr16:8807906 | A | G | 4 | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0006g0203 others(1): Show |
4 | HG01243.hp1 HG03453.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.347+1499A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8807906 | |||||||
| chr16:8808021 | T | A | 1 | a0001c0001t0005g0170 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.347+1614T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808021 | |||||||
| chr16:8808105 | C | T | 2 | a0002c0002t0002g0193 a0002c0002t0002g0199 |
2 | HG01257.hp1 HG01361.hp2 |
intron_variant | MODIFIER | c.347+1698C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808105 | |||||||
| chr16:8808130 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.347+1723G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808130 | |||||||
| chr16:8808207 | A | T | 328 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(325): Show |
349 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(346): Show |
intron_variant | MODIFIER | c.347+1800A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808207 | |||||||
| chr16:8808238 | A | G | 1 | a0001c0001t0008g0380 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.347+1831A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808238 | |||||||
| chr16:8808302 | A | G | 1 | a0006c0011t0001g0315 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.347+1895A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808302 | |||||||
| chr16:8808372 | TA | T | 14 | a0001c0001t0001g0010 a0001c0001t0001g0108 a0001c0001t0005g0110 others(11): Show |
14 | HG01069.hp2 HG01099.hp1 HG01192.hp2 others(11): Show |
intron_variant | MODIFIER | c.347+1977delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8808372 | ||||||
| chr16:8808387 | C | A | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.347+1980C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808387 | |||||||
| chr16:8808413 | C | T | 2 | a0001c0001t0033g0039 a0001c0001t0034g0040 |
2 | HG01346.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.347+2006C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808413 | |||||||
| chr16:8808501 | C | A | 1 | a0001c0001t0003g0367 | 1 | NA19000.hp2 | intron_variant | MODIFIER | c.347+2094C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808501 | |||||||
| chr16:8808530 | G | C | 2 | a0001c0001t0015g0319 a0001c0001t0015g0320 |
2 | HG02630.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.347+2123G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808530 | |||||||
| chr16:8808554 | A | G | 329 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(326): Show |
350 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(347): Show |
intron_variant | MODIFIER | c.347+2147A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808554 | |||||||
| chr16:8808661 | T | C | 5 | a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0029 others(2): Show |
5 | HG02145.hp1 HG02809.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.347+2254T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808661 | |||||||
| chr16:8808783 | G | A | 1 | a0001c0001t0015g0319 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.348-2296G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808783 | |||||||
| chr16:8808790 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.348-2289G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808790 | |||||||
| chr16:8808820 | G | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.348-2259G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808820 | |||||||
| chr16:8808853 | C | A | 1 | a0001c0001t0001g0112 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.348-2226C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808853 | |||||||
| chr16:8808860 | G | T | 1 | a0001c0001t0001g0314 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.348-2219G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808860 | |||||||
| chr16:8808912 | A | G | 1 | a0001c0001t0002g0273 | 1 | NA19068.hp2 | intron_variant | MODIFIER | c.348-2167A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808912 | |||||||
| chr16:8808920 | C | G | 99 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(96): Show |
102 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(99): Show |
intron_variant | MODIFIER | c.348-2159C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808920 | |||||||
| chr16:8808942 | A | C | 1 | a0001c0001t0002g0269 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.348-2137A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808942 | |||||||
| chr16:8808974 | T | G | 2 | a0001c0005t0001g0070 a0001c0005t0001g0071 |
2 | HG01081.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.348-2105T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8808974 | |||||||
| chr16:8809013 | G | C | 335 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(332): Show |
356 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(353): Show |
intron_variant | MODIFIER | c.348-2066G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809013 | |||||||
| chr16:8809043 | G | A | 1 | a0001c0001t0005g0173 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.348-2036G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809043 | |||||||
| chr16:8809247 | T | C | 3 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.348-1832T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809247 | |||||||
| chr16:8809281 | A | C | 4 | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0006g0203 others(1): Show |
4 | HG01243.hp1 HG03453.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.348-1798A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809281 | |||||||
| chr16:8809308 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.348-1771G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809308 | |||||||
| chr16:8809310 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.348-1769G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809310 | |||||||
| chr16:8809371 | G | A | 1 | a0001c0001t0002g0275 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.348-1708G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809371 | |||||||
| chr16:8809420 | G | T | 1 | a0001c0001t0002g0269 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.348-1659G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809420 | |||||||
| chr16:8809542 | TC | T | 329 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(326): Show |
350 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(347): Show |
intron_variant | MODIFIER | c.348-1534delC | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8809542 | ||||||
| chr16:8809546 | G | A | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.348-1533G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809546 | |||||||
| chr16:8809602 | G | A | 4 | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0006g0203 others(1): Show |
4 | HG01243.hp1 HG03453.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.348-1477G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809602 | |||||||
| chr16:8809615 | G | A | 6 | a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0006g0031 others(3): Show |
6 | HG02109.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.348-1464G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809615 | |||||||
| chr16:8809642 | A | G | 1 | a0001c0001t0001g0109 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.348-1437A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809642 | |||||||
| chr16:8809732 | G | T | 141 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(138): Show |
153 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(150): Show |
intron_variant | MODIFIER | c.348-1347G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809732 | |||||||
| chr16:8809785 | CTTT | C | 86 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(83): Show |
88 | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(85): Show |
intron_variant | MODIFIER | c.348-1293_348-1291d others(5): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809785 | |||||||
| chr16:8809841 | C | T | 3 | a0001c0001t0029g0313 a0001c0001t0033g0039 a0001c0001t0034g0040 |
3 | HG01346.hp1 HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.348-1238C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809841 | |||||||
| chr16:8809874 | G | A | 1 | a0001c0001t0001g0316 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.348-1205G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809874 | |||||||
| chr16:8809906 | G | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.348-1173G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809906 | |||||||
| chr16:8809967 | T | A | 2 | a0001c0005t0001g0070 a0001c0005t0001g0071 |
2 | HG01081.hp1 HG01358.hp1 |
intron_variant | MODIFIER | c.348-1112T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809967 | |||||||
| chr16:8809971 | C | T | 6 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show |
6 | HG00438.hp1 HG01099.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.348-1108C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8809971 | |||||||
| chr16:8810058 | A | C | 2 | a0001c0001t0002g0285 a0001c0001t0002g0286 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.348-1021A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810058 | |||||||
| chr16:8810102 | G | A | 2 | a0001c0001t0002g0213 a0001c0001t0002g0214 |
2 | NA18942.hp2 NA18953.hp1 |
intron_variant | MODIFIER | c.348-977G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810102 | |||||||
| chr16:8810177 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.348-902G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810177 | |||||||
| chr16:8810264 | G | T | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.348-815G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810264 | |||||||
| chr16:8810294 | A | C | 1 | a0006c0011t0001g0315 | 1 | HG02683.hp2 | intron_variant | MODIFIER | c.348-785A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810294 | |||||||
| chr16:8810357 | T | A | 339 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(336): Show |
360 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(357): Show |
intron_variant | MODIFIER | c.348-722T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810357 | |||||||
| chr16:8810358 | A | G | 339 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(336): Show |
360 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(357): Show |
intron_variant | MODIFIER | c.348-721A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810358 | |||||||
| chr16:8810464 | G | A | 27 | a0001c0001t0001g0003 a0001c0001t0001g0044 a0001c0001t0001g0113 others(24): Show |
29 | HG00280.hp1 HG00323.hp1 HG00597.hp1 others(26): Show |
intron_variant | MODIFIER | c.348-615G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810464 | |||||||
| chr16:8810542 | T | G | 1 | a0001c0001t0016g0205 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.348-537T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810542 | |||||||
| chr16:8810575 | CT | C | 186 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(183): Show |
203 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(200): Show |
intron_variant | MODIFIER | c.348-485delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8810575 | ||||||
| chr16:8810575 | CTT | C | 179 | a0001c0001t0001g0021 a0001c0001t0001g0052 a0001c0001t0001g0116 others(176): Show |
187 | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(184): Show |
intron_variant | MODIFIER | c.348-486_348-485del others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8810575 | ||||||
| chr16:8810575 | CTTT | C | 6 | a0001c0001t0002g0275 a0001c0001t0003g0329 a0001c0001t0014g0041 others(3): Show |
6 | HG01070.hp2 HG02257.hp2 HG02486.hp1 others(3): Show |
intron_variant | MODIFIER | c.348-487_348-485del others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8810575 | ||||||
| chr16:8810625 | G | C | 12 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(9): Show |
12 | HG01192.hp2 HG02257.hp2 HG02486.hp1 others(9): Show |
intron_variant | MODIFIER | c.348-454G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810625 | |||||||
| chr16:8810693 | C | G | 1 | a0001c0001t0001g0137 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.348-386C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810693 | |||||||
| chr16:8810783 | T | TTTTTTGT others(231): Show |
1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-296_348-295ins others(238): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810783 | |||||||
| chr16:8810784 | C | A | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-295C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810784 | |||||||
| chr16:8810787 | G | T | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-292G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810787 | |||||||
| chr16:8810791 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-288C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810791 | |||||||
| chr16:8810792 | A | G | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-287A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810792 | |||||||
| chr16:8810794 | A | C | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-285A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810794 | |||||||
| chr16:8810800 | A | G | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-279A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810800 | |||||||
| chr16:8810801 | G | C | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.348-278G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810801 | |||||||
| chr16:8810978 | C | T | 8 | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0097 others(5): Show |
10 | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.348-101C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8810978 | |||||||
| chr16:8811020 | T | G | 1 | a0001c0001t0002g0219 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.348-59T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8811020 | |||||||
| chr16:8811020 | T | TATG | 329 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(326): Show |
350 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(347): Show |
intron_variant | MODIFIER | c.348-58_348-56dupAT others(1): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr16 | 8811020 | ||||||
| chr16:8811040 | C | T | 3 | a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 |
3 | NA18980.hp1 NA18988.hp2 NA18994.hp2 |
intron_variant | MODIFIER | c.348-39C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 4/7 | chr16 | 8811040 | |||||||
| chr16:8811197 | T | C | 143 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(140): Show |
155 | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(152): Show |
intron_variant | MODIFIER | c.447+19T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811197 | |||||||
| chr16:8811200 | T | A | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.447+22T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811200 | |||||||
| chr16:8811325 | A | G | 330 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(327): Show |
351 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(348): Show |
intron_variant | MODIFIER | c.447+147A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811325 | |||||||
| chr16:8811365 | A | C | 330 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(327): Show |
351 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(348): Show |
intron_variant | MODIFIER | c.447+187A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811365 | |||||||
| chr16:8811391 | A | T | 1 | a0001c0001t0002g0269 | 1 | NA19086.hp2 | intron_variant | MODIFIER | c.447+213A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811391 | |||||||
| chr16:8811402 | C | T | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.447+224C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811402 | |||||||
| chr16:8811406 | G | A | 4 | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0006g0203 others(1): Show |
4 | HG01243.hp1 HG03453.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.447+228G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811406 | |||||||
| chr16:8811491 | G | A | 1 | a0001c0001t0001g0312 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.448-147G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 5/7 | chr16 | 8811491 | |||||||
| chr16:8811765 | T | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.523+52T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8811765 | |||||||
| chr16:8811794 | G | A | 1 | a0001c0001t0003g0362 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.523+81G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8811794 | |||||||
| chr16:8811852 | A | G | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.523+139A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8811852 | |||||||
| chr16:8812148 | T | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(137): Show |
152 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.523+435T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812148 | |||||||
| chr16:8812172 | C | A | 1 | a0001c0001t0002g0220 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.523+459C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812172 | |||||||
| chr16:8812335 | G | A | 5 | a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0117 others(2): Show |
5 | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.523+622G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812335 | |||||||
| chr16:8812379 | TC | T | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.524-611delC | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812379 | |||||||
| chr16:8812445 | G | C | 1 | a0001c0001t0001g0138 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.524-546G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812445 | |||||||
| chr16:8812528 | G | A | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.524-463G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812528 | |||||||
| chr16:8812535 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.524-456G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812535 | |||||||
| chr16:8812541 | C | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.524-450C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812541 | |||||||
| chr16:8812590 | G | A | 99 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(96): Show |
102 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(99): Show |
intron_variant | MODIFIER | c.524-401G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812590 | |||||||
| chr16:8812682 | C | A | 258 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(255): Show |
274 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(271): Show |
intron_variant | MODIFIER | c.524-309C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812682 | |||||||
| chr16:8812716 | C | T | 152 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(149): Show |
164 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.524-275C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812716 | |||||||
| chr16:8812745 | A | G | 2 | a0001c0001t0002g0267 a0001c0001t0002g0268 |
2 | NA18975.hp1 NA18977.hp2 |
intron_variant | MODIFIER | c.524-246A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812745 | |||||||
| chr16:8812843 | A | G | 1 | a0001c0001t0003g0096 | 1 | HG00733.hp1 | intron_variant | MODIFIER | c.524-148A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812843 | |||||||
| chr16:8812850 | A | C | 3 | a0001c0001t0029g0313 a0001c0001t0033g0039 a0001c0001t0034g0040 |
3 | HG01346.hp1 HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.524-141A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812850 | |||||||
| chr16:8812961 | G | A | 1 | a0001c0001t0002g0221 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.524-30G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 6/7 | chr16 | 8812961 | |||||||
| chr16:8813136 | T | C | 3 | a0001c0001t0002g0060 a0001c0001t0002g0097 a0001c0001t0002g0098 |
3 | HG03195.hp2 HG03453.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.639+30T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813136 | |||||||
| chr16:8813150 | C | T | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.639+44C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813150 | |||||||
| chr16:8813151 | T | C | 1 | a0001c0001t0020g0281 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.639+45T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813151 | |||||||
| chr16:8813163 | A | G | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+57A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813163 | |||||||
| chr16:8813168 | C | T | 73 | a0001c0001t0001g0021 a0001c0001t0001g0361 a0001c0001t0001g0363 others(70): Show |
78 | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(75): Show |
intron_variant | MODIFIER | c.639+62C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813168 | |||||||
| chr16:8813176 | C | G | 2 | a0001c0001t0033g0039 a0001c0001t0034g0040 |
2 | HG01346.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.639+70C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813176 | |||||||
| chr16:8813288 | G | T | 333 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(330): Show |
353 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(350): Show |
intron_variant | MODIFIER | c.639+182G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813288 | |||||||
| chr16:8813420 | G | A | 1 | a0001c0001t0002g0371 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.639+314G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813420 | |||||||
| chr16:8813473 | G | A | 4 | a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 others(1): Show |
4 | HG02451.hp1 HG02976.hp1 HG03225.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+367G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813473 | |||||||
| chr16:8813476 | GCATT | G | 5 | a0001c0001t0013g0011 a0001c0001t0013g0216 a0001c0001t0029g0313 others(2): Show |
6 | HG01167.hp1 HG01169.hp1 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+376_639+379del others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813476 | ||||||
| chr16:8813512 | G | A | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+406G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813512 | |||||||
| chr16:8813607 | G | A | 97 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(94): Show |
99 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.639+501G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813607 | |||||||
| chr16:8813608 | G | A | 1 | a0001c0001t0003g0330 | 1 | HG00408.hp2 | intron_variant | MODIFIER | c.639+502G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813608 | |||||||
| chr16:8813739 | A | C | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+633A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813739 | |||||||
| chr16:8813773 | G | C | 1 | a0001c0001t0001g0052 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.639+667G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813773 | |||||||
| chr16:8813787 | C | T | 1 | a0001c0001t0001g0158 | 1 | NA18951.hp1 | intron_variant | MODIFIER | c.639+681C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813787 | |||||||
| chr16:8813857 | C | CT | 11 | a0001c0001t0001g0052 a0001c0001t0001g0314 a0001c0001t0001g0316 others(8): Show |
11 | HG01891.hp2 HG02273.hp2 HG02280.hp1 others(8): Show |
intron_variant | MODIFIER | c.639+776dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813857 | C | CTT | 10 | a0001c0001t0001g0312 a0001c0001t0005g0174 a0001c0001t0005g0175 others(7): Show |
10 | HG01192.hp2 HG01255.hp2 HG02109.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+775_639+776dup others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813857 | CTTT | C | 6 | a0001c0001t0002g0220 a0001c0001t0002g0262 a0001c0001t0002g0263 others(3): Show |
6 | HG01978.hp2 HG02965.hp1 HG03688.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+774_639+776del others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813857 | CTTTT | C | 96 | a0001c0001t0001g0008 a0001c0001t0001g0064 a0001c0001t0001g0121 others(93): Show |
98 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(95): Show |
intron_variant | MODIFIER | c.639+773_639+776del others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813857 | CTTTTT | C | 213 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(210): Show |
230 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(227): Show |
intron_variant | MODIFIER | c.639+772_639+776del others(5): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813857 | CTTTTTT | C | 9 | a0001c0001t0001g0072 a0001c0001t0001g0131 a0001c0001t0001g0138 others(6): Show |
9 | HG01168.hp1 HG01256.hp2 HG01517.hp1 others(6): Show |
intron_variant | MODIFIER | c.639+771_639+776del others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813857 | CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0002g0012 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.639+762_639+776del others(15): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8813857 | ||||||
| chr16:8813864 | T | C | 1 | a0001c0001t0001g0109 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.639+758T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813864 | |||||||
| chr16:8813871 | T | C | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.639+765T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813871 | |||||||
| chr16:8813948 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+842C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8813948 | |||||||
| chr16:8814101 | A | T | 1 | a0001c0001t0002g0278 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.639+995A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814101 | |||||||
| chr16:8814270 | C | T | 227 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(224): Show |
244 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(241): Show |
intron_variant | MODIFIER | c.639+1164C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814270 | |||||||
| chr16:8814375 | C | T | 2 | a0001c0001t0014g0042 a0001c0001t0014g0043 |
2 | HG02257.hp2 HG02486.hp1 |
intron_variant | MODIFIER | c.639+1269C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814375 | |||||||
| chr16:8814388 | C | G | 102 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(99): Show |
104 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(101): Show |
intron_variant | MODIFIER | c.639+1282C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814388 | |||||||
| chr16:8814465 | C | G | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.639+1359C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814465 | |||||||
| chr16:8814532 | G | A | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+1426G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814532 | |||||||
| chr16:8814680 | A | G | 15 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(12): Show |
16 | HG01106.hp2 HG01109.hp2 HG01192.hp2 others(13): Show |
intron_variant | MODIFIER | c.639+1574A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814680 | |||||||
| chr16:8814701 | A | T | 2 | a0001c0001t0002g0095 a0001c0001t0002g0103 |
2 | NA18747.hp1 NA19057.hp2 |
intron_variant | MODIFIER | c.639+1595A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814701 | |||||||
| chr16:8814729 | G | C | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.639+1623G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814729 | |||||||
| chr16:8814754 | C | T | 2 | a0001c0001t0029g0313 a0001c0001t0034g0040 |
2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+1648C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814754 | |||||||
| chr16:8814824 | T | G | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+1718T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814824 | |||||||
| chr16:8814913 | G | C | 104 | a0001c0001t0001g0182 a0001c0001t0002g0012 a0001c0001t0002g0013 others(101): Show |
106 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.639+1807G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814913 | |||||||
| chr16:8814954 | G | A | 209 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0074 others(206): Show |
217 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(214): Show |
intron_variant | MODIFIER | c.639+1848G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814954 | |||||||
| chr16:8814981 | T | C | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+1875T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8814981 | |||||||
| chr16:8815000 | G | A | 103 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(100): Show |
113 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(110): Show |
intron_variant | MODIFIER | c.639+1894G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815000 | |||||||
| chr16:8815012 | G | A | 3 | a0001c0001t0012g0014 a0001c0001t0012g0297 a0001c0001t0030g0298 |
4 | HG02717.hp2 HG02723.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.639+1906G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815012 | |||||||
| chr16:8815096 | C | G | 176 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0361 others(173): Show |
183 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(180): Show |
intron_variant | MODIFIER | c.639+1990C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815096 | |||||||
| chr16:8815110 | T | C | 1 | a0001c0001t0001g0181 | 1 | HG02738.hp1 | intron_variant | MODIFIER | c.639+2004T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815110 | |||||||
| chr16:8815218 | C | CT | 103 | a0001c0001t0001g0089 a0001c0001t0001g0124 a0001c0001t0002g0012 others(100): Show |
105 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(102): Show |
intron_variant | MODIFIER | c.639+2128dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8815218 | ||||||
| chr16:8815218 | C | CTT | 68 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0361 others(65): Show |
73 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.639+2127_639+2128d others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8815218 | ||||||
| chr16:8815218 | CT | C | 11 | a0001c0001t0001g0090 a0001c0001t0009g0026 a0001c0001t0009g0027 others(8): Show |
11 | HG02145.hp1 HG02257.hp2 HG02486.hp1 others(8): Show |
intron_variant | MODIFIER | c.639+2128delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8815218 | ||||||
| chr16:8815258 | C | T | 1 | a0001c0001t0010g0034 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.639+2152C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815258 | |||||||
| chr16:8815341 | C | G | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(137): Show |
152 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.639+2235C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815341 | |||||||
| chr16:8815342 | C | T | 1 | a0001c0001t0001g0363 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.639+2236C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815342 | |||||||
| chr16:8815344 | C | T | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(137): Show |
152 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(149): Show |
intron_variant | MODIFIER | c.639+2238C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815344 | |||||||
| chr16:8815383 | A | G | 1 | a0001c0001t0005g0177 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.639+2277A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815383 | |||||||
| chr16:8815385 | C | T | 1 | a0001c0001t0037g0261 | 1 | HG00733.hp2 | intron_variant | MODIFIER | c.639+2279C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815385 | |||||||
| chr16:8815391 | C | T | 1 | a0001c0001t0003g0358 | 1 | HG02015.hp1 | intron_variant | MODIFIER | c.639+2285C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815391 | |||||||
| chr16:8815433 | A | G | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+2327A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815433 | |||||||
| chr16:8815488 | C | T | 185 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0361 others(182): Show |
192 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(189): Show |
intron_variant | MODIFIER | c.639+2382C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815488 | |||||||
| chr16:8815511 | G | A | 1 | a0001c0001t0001g0182 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.639+2405G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815511 | |||||||
| chr16:8815519 | G | A | 1 | a0001c0001t0008g0378 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.639+2413G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815519 | |||||||
| chr16:8815568 | G | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+2462G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815568 | |||||||
| chr16:8815575 | CAT | C | 144 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(141): Show |
157 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.639+2470_639+2471d others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815575 | |||||||
| chr16:8815644 | C | T | 348 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(345): Show |
369 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(366): Show |
intron_variant | MODIFIER | c.639+2538C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815644 | |||||||
| chr16:8815750 | A | G | 1 | a0001c0001t0002g0266 | 1 | HG00408.hp1 | intron_variant | MODIFIER | c.639+2644A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815750 | |||||||
| chr16:8815811 | A | C | 1 | a0001c0001t0002g0260 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.639+2705A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815811 | |||||||
| chr16:8815919 | A | G | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+2813A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815919 | |||||||
| chr16:8815945 | A | C | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.639+2839A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8815945 | |||||||
| chr16:8816041 | T | C | 1 | a0001c0001t0004g0299 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.639+2935T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816041 | |||||||
| chr16:8816052 | G | C | 4 | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0006g0203 others(1): Show |
4 | HG01243.hp1 HG03453.hp2 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+2946G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816052 | |||||||
| chr16:8816068 | C | G | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+2962C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816068 | |||||||
| chr16:8816251 | C | G | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.639+3145C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816251 | |||||||
| chr16:8816270 | G | A | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.639+3164G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816270 | |||||||
| chr16:8816401 | T | C | 1 | a0001c0001t0002g0224 | 1 | NA19007.hp1 | intron_variant | MODIFIER | c.639+3295T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816401 | |||||||
| chr16:8816468 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.639+3362C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816468 | |||||||
| chr16:8816534 | A | G | 19 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(16): Show |
19 | HG01192.hp2 HG02109.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.639+3428A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816534 | |||||||
| chr16:8816549 | C | G | 1 | a0001c0001t0001g0154 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.639+3443C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816549 | |||||||
| chr16:8816578 | CT | C | 107 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(104): Show |
109 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.639+3473delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816578 | |||||||
| chr16:8816665 | C | T | 5 | a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0135 others(2): Show |
5 | HG01123.hp2 HG01361.hp1 HG01516.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+3559C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816665 | |||||||
| chr16:8816674 | G | C | 1 | a0001c0001t0001g0140 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.639+3568G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816674 | |||||||
| chr16:8816729 | G | A | 8 | a0001c0001t0001g0021 a0001c0001t0001g0363 a0001c0001t0001g0364 others(5): Show |
9 | HG01891.hp1 HG02723.hp2 HG03098.hp1 others(6): Show |
intron_variant | MODIFIER | c.639+3623G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816729 | |||||||
| chr16:8816796 | C | T | 1 | a0001c0001t0003g0325 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.639+3690C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816796 | |||||||
| chr16:8816897 | G | C | 36 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(33): Show |
38 | HG01106.hp2 HG01109.hp2 HG01167.hp1 others(35): Show |
intron_variant | MODIFIER | c.639+3791G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8816897 | |||||||
| chr16:8817109 | T | G | 139 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(136): Show |
151 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.639+4003T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817109 | |||||||
| chr16:8817145 | A | C | 19 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(16): Show |
19 | HG01192.hp2 HG02109.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.639+4039A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817145 | |||||||
| chr16:8817167 | A | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.639+4061A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817167 | |||||||
| chr16:8817217 | A | G | 322 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(319): Show |
343 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(340): Show |
intron_variant | MODIFIER | c.639+4111A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817217 | |||||||
| chr16:8817327 | A | G | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.639+4221A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817327 | |||||||
| chr16:8817507 | A | C | 2 | a0001c0001t0014g0041 a0001c0001t0014g0043 |
2 | HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+4401A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817507 | |||||||
| chr16:8817507 | A | G | 2 | a0001c0001t0001g0075 a0001c0001t0001g0137 |
2 | HG03654.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.639+4401A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817507 | |||||||
| chr16:8817629 | G | A | 8 | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0097 others(5): Show |
10 | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.639+4523G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817629 | |||||||
| chr16:8817864 | A | G | 1 | a0001c0001t0002g0259 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.639+4758A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817864 | |||||||
| chr16:8817883 | A | G | 8 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(5): Show |
8 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.639+4777A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817883 | |||||||
| chr16:8817906 | A | AT | 205 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(202): Show |
216 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(213): Show |
intron_variant | MODIFIER | c.639+4815dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8817906 | ||||||
| chr16:8817906 | A | ATT | 141 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(138): Show |
150 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(147): Show |
intron_variant | MODIFIER | c.639+4814_639+4815d others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8817906 | ||||||
| chr16:8817973 | G | A | 1 | a0001c0001t0001g0312 | 1 | HG01255.hp2 | intron_variant | MODIFIER | c.639+4867G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8817973 | |||||||
| chr16:8818148 | C | T | 1 | a0001c0001t0001g0161 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.639+5042C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818148 | |||||||
| chr16:8818201 | G | A | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.639+5095G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818201 | |||||||
| chr16:8818203 | AAAG | A | 101 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(98): Show |
103 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.639+5102_639+5104d others(5): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8818203 | ||||||
| chr16:8818364 | G | T | 2 | a0001c0001t0002g0258 a0001c0001t0002g0259 |
2 | HG01081.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.639+5258G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818364 | |||||||
| chr16:8818369 | C | T | 1 | a0001c0001t0003g0357 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.639+5263C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818369 | |||||||
| chr16:8818548 | G | A | 3 | a0001c0001t0001g0048 a0001c0001t0001g0142 a0001c0001t0001g0143 |
3 | HG00544.hp2 NA18940.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.639+5442G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818548 | |||||||
| chr16:8818736 | T | C | 321 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(318): Show |
340 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(337): Show |
intron_variant | MODIFIER | c.639+5630T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818736 | |||||||
| chr16:8818769 | T | C | 2 | a0001c0001t0014g0041 a0001c0001t0014g0043 |
2 | HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+5663T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818769 | |||||||
| chr16:8818779 | C | CATCAGCC others(52): Show |
5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+5674_639+5732d others(61): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8818779 | ||||||
| chr16:8818786 | C | T | 3 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 |
3 | HG02109.hp1 HG02559.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.639+5680C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818786 | |||||||
| chr16:8818828 | A | G | 1 | a0001c0001t0005g0110 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.639+5722A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818828 | |||||||
| chr16:8818885 | G | T | 62 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(59): Show |
66 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(63): Show |
intron_variant | MODIFIER | c.639+5779G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818885 | |||||||
| chr16:8818944 | G | T | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.639+5838G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8818944 | |||||||
| chr16:8819063 | A | G | 1 | a0001c0001t0002g0098 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.639+5957A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819063 | |||||||
| chr16:8819124 | A | G | 3 | a0004c0003t0003g0016 a0004c0003t0003g0326 a0004c0003t0003g0327 |
4 | NA18948.hp2 NA18956.hp2 NA18997.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+6018A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819124 | |||||||
| chr16:8819193 | C | T | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.639+6087C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819193 | |||||||
| chr16:8819256 | A | C | 1 | a0001c0001t0001g0089 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.639+6150A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819256 | |||||||
| chr16:8819257 | G | C | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+6151G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819257 | |||||||
| chr16:8819258 | A | G | 1 | a0001c0001t0001g0089 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.639+6152A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819258 | |||||||
| chr16:8819346 | G | A | 7 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0010g0034 others(4): Show |
7 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.639+6240G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819346 | |||||||
| chr16:8819451 | G | A | 139 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(136): Show |
151 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.639+6345G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819451 | |||||||
| chr16:8819538 | A | G | 2 | a0001c0001t0001g0044 a0001c0001t0014g0042 |
2 | HG02257.hp2 HG02572.hp2 |
intron_variant | MODIFIER | c.639+6432A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819538 | |||||||
| chr16:8819648 | T | C | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.639+6542T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819648 | |||||||
| chr16:8819652 | G | A | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.639+6546G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819652 | |||||||
| chr16:8819696 | T | TA | 197 | a0001c0001t0001g0021 a0001c0001t0001g0057 a0001c0001t0001g0058 others(194): Show |
205 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(202): Show |
intron_variant | MODIFIER | c.639+6604dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8819696 | ||||||
| chr16:8819710 | A | T | 1 | a0001c0001t0002g0260 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.639+6604A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819710 | |||||||
| chr16:8819711 | C | A | 1 | a0001c0001t0002g0260 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.639+6605C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819711 | |||||||
| chr16:8819711 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+6605C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819711 | |||||||
| chr16:8819783 | C | G | 2 | a0001c0001t0029g0313 a0001c0001t0034g0040 |
2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+6677C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819783 | |||||||
| chr16:8819892 | G | T | 6 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(3): Show |
6 | HG01192.hp2 HG02886.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.639+6786G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819892 | |||||||
| chr16:8819917 | G | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+6811G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819917 | |||||||
| chr16:8819934 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+6828A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819934 | |||||||
| chr16:8819947 | C | A | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+6841C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819947 | |||||||
| chr16:8819960 | T | C | 3 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.639+6854T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8819960 | |||||||
| chr16:8820067 | G | A | 4 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(1): Show |
4 | HG02647.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+6961G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820067 | |||||||
| chr16:8820091 | G | A | 1 | a0001c0001t0028g0126 | 1 | NA19082.hp2 | intron_variant | MODIFIER | c.639+6985G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820091 | |||||||
| chr16:8820121 | C | T | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.639+7015C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820121 | |||||||
| chr16:8820180 | G | A | 2 | a0001c0001t0001g0159 a0001c0001t0001g0160 |
2 | NA19012.hp2 NA19086.hp1 |
intron_variant | MODIFIER | c.639+7074G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820180 | |||||||
| chr16:8820207 | T | G | 5 | a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0117 others(2): Show |
5 | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.639+7101T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820207 | |||||||
| chr16:8820290 | G | T | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+7184G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820290 | |||||||
| chr16:8820325 | G | A | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.639+7219G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820325 | |||||||
| chr16:8820345 | GTTC | G | 6 | a0001c0001t0001g0160 a0001c0001t0010g0034 a0001c0001t0010g0035 others(3): Show |
6 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.639+7245_639+7247d others(5): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820345 | ||||||
| chr16:8820351 | C | CT | 10 | a0001c0001t0001g0088 a0001c0001t0002g0256 a0001c0001t0002g0257 others(7): Show |
10 | HG02145.hp1 HG02717.hp1 HG02809.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+7262dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820351 | C | CTTTTTTT others(3): Show |
4 | a0001c0001t0014g0041 a0001c0001t0014g0043 a0001c0001t0029g0313 others(1): Show |
4 | HG02486.hp1 HG02559.hp2 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+7253_639+7262d others(12): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820351 | C | CTTTTTTT others(4): Show |
15 | a0001c0001t0001g0052 a0001c0001t0001g0305 a0001c0001t0001g0312 others(12): Show |
16 | HG01243.hp1 HG01255.hp2 HG01884.hp2 others(13): Show |
intron_variant | MODIFIER | c.639+7252_639+7262d others(13): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820351 | C | CTTTTTTT others(5): Show |
2 | a0001c0001t0001g0318 a0001c0001t0030g0298 |
2 | HG03471.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.639+7251_639+7262d others(14): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820351 | C | CTTTTTTT others(8): Show |
5 | a0001c0001t0005g0174 a0001c0001t0005g0175 a0001c0001t0005g0176 others(2): Show |
5 | HG01192.hp2 HG02886.hp2 HG02895.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+7248_639+7262d others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820351 | C | CTTTTTTT others(9): Show |
4 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0178 others(1): Show |
4 | HG02622.hp2 HG03195.hp1 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.639+7247_639+7262d others(18): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820351 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+7245C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820351 | |||||||
| chr16:8820351 | CT | C | 65 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0076 others(62): Show |
69 | HG00408.hp2 HG00423.hp2 HG00544.hp1 others(66): Show |
intron_variant | MODIFIER | c.639+7262delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8820351 | ||||||
| chr16:8820368 | T | C | 1 | a0001c0001t0002g0012 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.639+7262T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820368 | |||||||
| chr16:8820378 | A | C | 149 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(146): Show |
162 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(159): Show |
intron_variant | MODIFIER | c.639+7272A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820378 | |||||||
| chr16:8820415 | G | A | 146 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(143): Show |
159 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(156): Show |
intron_variant | MODIFIER | c.639+7309G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820415 | |||||||
| chr16:8820460 | C | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+7354C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820460 | |||||||
| chr16:8820488 | G | A | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+7382G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820488 | |||||||
| chr16:8820489 | G | T | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+7383G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820489 | |||||||
| chr16:8820600 | C | T | 7 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0013g0011 others(4): Show |
9 | HG01106.hp2 HG01109.hp2 HG01167.hp1 others(6): Show |
intron_variant | MODIFIER | c.639+7494C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820600 | |||||||
| chr16:8820612 | C | G | 1 | a0001c0001t0001g0154 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.639+7506C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820612 | |||||||
| chr16:8820725 | C | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.639+7619C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820725 | |||||||
| chr16:8820894 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.639+7788C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820894 | |||||||
| chr16:8820963 | G | T | 6 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(3): Show |
6 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+7857G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820963 | |||||||
| chr16:8820967 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.639+7861C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820967 | |||||||
| chr16:8820970 | G | C | 3 | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0137 |
3 | HG01516.hp2 HG01517.hp1 NA20129.hp2 |
intron_variant | MODIFIER | c.639+7864G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820970 | |||||||
| chr16:8820987 | A | T | 1 | a0001c0001t0001g0153 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.639+7881A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8820987 | |||||||
| chr16:8821011 | TA | T | 338 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(335): Show |
359 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(356): Show |
intron_variant | MODIFIER | c.639+7907delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8821011 | ||||||
| chr16:8821019 | C | T | 1 | a0001c0001t0010g0034 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.639+7913C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821019 | |||||||
| chr16:8821044 | C | G | 2 | a0001c0001t0014g0041 a0001c0001t0014g0043 |
2 | HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+7938C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821044 | |||||||
| chr16:8821048 | A | T | 326 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(323): Show |
345 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(342): Show |
intron_variant | MODIFIER | c.639+7942A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821048 | |||||||
| chr16:8821070 | G | T | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.639+7964G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821070 | |||||||
| chr16:8821160 | C | G | 3 | a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 |
3 | NA18965.hp2 NA18980.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.639+8054C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821160 | |||||||
| chr16:8821211 | G | A | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+8105G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821211 | |||||||
| chr16:8821212 | C | T | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.639+8106C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821212 | |||||||
| chr16:8821253 | G | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
161 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(158): Show |
intron_variant | MODIFIER | c.639+8147G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821253 | |||||||
| chr16:8821261 | C | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.639+8155C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821261 | |||||||
| chr16:8821309 | A | G | 1 | a0001c0001t0001g0048 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.639+8203A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821309 | |||||||
| chr16:8821334 | C | T | 2 | a0001c0001t0014g0041 a0001c0001t0014g0043 |
2 | HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.639+8228C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821334 | |||||||
| chr16:8821408 | T | C | 3 | a0001c0001t0003g0056 a0001c0001t0003g0321 a0001c0001t0003g0328 |
3 | HG00735.hp1 HG01928.hp1 HG03688.hp2 |
intron_variant | MODIFIER | c.639+8302T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821408 | |||||||
| chr16:8821416 | G | A | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+8310G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821416 | |||||||
| chr16:8821422 | G | C | 105 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(102): Show |
107 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(104): Show |
intron_variant | MODIFIER | c.639+8316G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821422 | |||||||
| chr16:8821454 | G | A | 1 | a0001c0001t0001g0144 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.639+8348G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821454 | |||||||
| chr16:8821563 | G | A | 1 | a0001c0005t0001g0070 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.639+8457G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821563 | |||||||
| chr16:8821673 | C | G | 1 | a0001c0001t0002g0101 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.639+8567C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821673 | |||||||
| chr16:8821748 | G | T | 1 | a0001c0001t0010g0034 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.639+8642G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821748 | |||||||
| chr16:8821749 | T | G | 1 | a0001c0001t0002g0275 | 1 | HG01070.hp2 | intron_variant | MODIFIER | c.639+8643T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821749 | |||||||
| chr16:8821766 | A | T | 1 | a0001c0001t0002g0254 | 1 | HG02074.hp2 | intron_variant | MODIFIER | c.639+8660A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821766 | |||||||
| chr16:8821924 | C | T | 1 | a0001c0001t0001g0108 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.639+8818C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821924 | |||||||
| chr16:8821927 | G | A | 1 | a0001c0001t0002g0289 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.639+8821G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821927 | |||||||
| chr16:8821978 | G | C | 1 | a0001c0001t0006g0201 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.639+8872G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8821978 | |||||||
| chr16:8822039 | C | T | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.639+8933C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822039 | |||||||
| chr16:8822041 | G | T | 1 | a0001c0001t0001g0153 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.639+8935G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822041 | |||||||
| chr16:8822180 | G | T | 1 | a0001c0001t0002g0257 | 1 | HG03654.hp2 | intron_variant | MODIFIER | c.639+9074G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822180 | |||||||
| chr16:8822183 | A | C | 1 | a0001c0001t0001g0361 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.639+9077A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822183 | |||||||
| chr16:8822256 | A | T | 2 | a0001c0001t0029g0313 a0001c0001t0034g0040 |
2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+9150A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822256 | |||||||
| chr16:8822462 | C | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+9356C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822462 | |||||||
| chr16:8822484 | T | G | 8 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(5): Show |
8 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(5): Show |
intron_variant | MODIFIER | c.639+9378T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822484 | |||||||
| chr16:8822504 | A | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+9398A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822504 | |||||||
| chr16:8822515 | G | A | 1 | a0001c0001t0009g0026 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.639+9409G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822515 | |||||||
| chr16:8822623 | A | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+9517A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822623 | |||||||
| chr16:8822643 | A | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+9537A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822643 | |||||||
| chr16:8822721 | G | C | 156 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(153): Show |
169 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(166): Show |
intron_variant | MODIFIER | c.639+9615G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822721 | |||||||
| chr16:8822857 | A | T | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+9751A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822857 | |||||||
| chr16:8822938 | T | G | 1 | a0007c0009t0003g0360 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.639+9832T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8822938 | |||||||
| chr16:8823228 | A | T | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+10122A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823228 | |||||||
| chr16:8823307 | A | G | 1 | a0001c0001t0011g0334 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.639+10201A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823307 | |||||||
| chr16:8823349 | G | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+10243G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823349 | |||||||
| chr16:8823535 | T | C | 1 | a0001c0001t0003g0336 | 1 | NA19062.hp2 | intron_variant | MODIFIER | c.639+10429T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823535 | |||||||
| chr16:8823641 | C | CAGGTTAG others(299): Show |
1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+10550_639+1055 others(310): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8823641 | ||||||
| chr16:8823782 | G | T | 1 | a0001c0001t0003g0050 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.639+10676G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823782 | |||||||
| chr16:8823785 | G | A | 348 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(345): Show |
369 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(366): Show |
intron_variant | MODIFIER | c.639+10679G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823785 | |||||||
| chr16:8823803 | T | C | 1 | a0001c0001t0001g0132 | 1 | NA19009.hp2 | intron_variant | MODIFIER | c.639+10697T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823803 | |||||||
| chr16:8823812 | C | A | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+10706C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823812 | |||||||
| chr16:8823916 | G | T | 1 | a0001c0001t0002g0256 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.639+10810G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8823916 | |||||||
| chr16:8824057 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+10951C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824057 | |||||||
| chr16:8824072 | T | C | 1 | a0001c0001t0024g0337 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.639+10966T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824072 | |||||||
| chr16:8824086 | A | G | 1 | a0001c0001t0017g0025 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.639+10980A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824086 | |||||||
| chr16:8824139 | G | A | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
158 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(155): Show |
intron_variant | MODIFIER | c.639+11033G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824139 | |||||||
| chr16:8824195 | A | C | 3 | a0004c0003t0003g0016 a0004c0003t0003g0326 a0004c0003t0003g0327 |
4 | NA18948.hp2 NA18956.hp2 NA18997.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+11089A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824195 | |||||||
| chr16:8824473 | A | G | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.639+11367A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824473 | |||||||
| chr16:8824535 | A | G | 1 | a0001c0001t0012g0297 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.639+11429A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824535 | |||||||
| chr16:8824540 | A | G | 1 | a0001c0001t0002g0222 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.639+11434A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824540 | |||||||
| chr16:8824550 | G | C | 1 | a0001c0001t0001g0318 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.639+11444G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824550 | |||||||
| chr16:8824788 | C | T | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.639+11682C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824788 | |||||||
| chr16:8824883 | CTTTCT | C | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.639+11781_639+1178 others(9): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8824883 | ||||||
| chr16:8824984 | A | G | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.639+11878A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824984 | |||||||
| chr16:8824998 | C | T | 6 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(3): Show |
6 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+11892C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8824998 | |||||||
| chr16:8825050 | A | C | 3 | a0001c0001t0029g0313 a0001c0001t0033g0039 a0001c0001t0034g0040 |
3 | HG01346.hp1 HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+11944A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825050 | |||||||
| chr16:8825074 | A | G | 3 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 |
3 | HG02647.hp2 HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.639+11968A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825074 | |||||||
| chr16:8825133 | C | T | 58 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(55): Show |
62 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(59): Show |
intron_variant | MODIFIER | c.639+12027C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825133 | |||||||
| chr16:8825171 | C | T | 1 | a0001c0001t0013g0216 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.639+12065C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825171 | |||||||
| chr16:8825177 | T | C | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+12071T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825177 | |||||||
| chr16:8825183 | A | G | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+12077A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825183 | |||||||
| chr16:8825272 | C | T | 4 | a0001c0001t0003g0352 a0001c0001t0003g0359 a0001c0001t0003g0377 others(1): Show |
4 | HG02602.hp2 HG03239.hp2 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.639+12166C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825272 | |||||||
| chr16:8825307 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+12201A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825307 | |||||||
| chr16:8825347 | C | T | 10 | a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 others(7): Show |
11 | HG01167.hp1 HG01169.hp1 HG02129.hp1 others(8): Show |
intron_variant | MODIFIER | c.639+12241C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825347 | |||||||
| chr16:8825529 | C | T | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.639+12423C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825529 | |||||||
| chr16:8825531 | G | C | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+12425G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825531 | |||||||
| chr16:8825541 | G | C | 1 | a0001c0001t0003g0050 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.639+12435G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825541 | |||||||
| chr16:8825558 | T | A | 148 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
161 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(158): Show |
intron_variant | MODIFIER | c.639+12452T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825558 | |||||||
| chr16:8825660 | G | A | 8 | a0001c0001t0001g0048 a0001c0001t0001g0123 a0001c0001t0001g0124 others(5): Show |
8 | HG00544.hp2 HG02056.hp1 NA18940.hp2 others(5): Show |
intron_variant | MODIFIER | c.639+12554G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825660 | |||||||
| chr16:8825691 | G | A | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+12585G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825691 | |||||||
| chr16:8825756 | A | AT | 311 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(308): Show |
330 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(327): Show |
intron_variant | MODIFIER | c.639+12667dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8825756 | ||||||
| chr16:8825756 | A | ATT | 21 | a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0138 others(18): Show |
22 | HG00735.hp1 HG01167.hp1 HG01168.hp1 others(19): Show |
intron_variant | MODIFIER | c.639+12666_639+1266 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8825756 | ||||||
| chr16:8825893 | C | T | 97 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(94): Show |
99 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.639+12787C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825893 | |||||||
| chr16:8825895 | A | C | 7 | a0001c0001t0002g0067 a0001c0001t0002g0252 a0001c0001t0002g0290 others(4): Show |
7 | HG02056.hp2 HG02129.hp2 NA18952.hp2 others(4): Show |
intron_variant | MODIFIER | c.639+12789A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825895 | |||||||
| chr16:8825918 | G | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+12812G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8825918 | |||||||
| chr16:8826045 | C | T | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.639+12939C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826045 | |||||||
| chr16:8826046 | A | G | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+12940A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826046 | |||||||
| chr16:8826150 | T | G | 2 | a0001c0001t0029g0313 a0001c0001t0034g0040 |
2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+13044T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826150 | |||||||
| chr16:8826164 | C | T | 1 | a0001c0001t0002g0278 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.639+13058C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826164 | |||||||
| chr16:8826246 | T | C | 1 | a0001c0001t0001g0127 | 1 | HG00597.hp1 | intron_variant | MODIFIER | c.639+13140T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826246 | |||||||
| chr16:8826286 | A | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
161 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(158): Show |
intron_variant | MODIFIER | c.639+13180A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826286 | |||||||
| chr16:8826343 | C | A | 1 | a0001c0001t0003g0324 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.639+13237C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826343 | |||||||
| chr16:8826346 | A | G | 10 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(7): Show |
10 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+13240A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826346 | |||||||
| chr16:8826358 | A | C | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+13252A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826358 | |||||||
| chr16:8826373 | A | G | 1 | a0001c0001t0002g0265 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.639+13267A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826373 | |||||||
| chr16:8826404 | A | G | 2 | a0001c0001t0004g0295 a0001c0001t0004g0307 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.639+13298A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826404 | |||||||
| chr16:8826430 | T | G | 71 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0361 others(68): Show |
75 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(72): Show |
intron_variant | MODIFIER | c.639+13324T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826430 | |||||||
| chr16:8826503 | C | T | 8 | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0097 others(5): Show |
10 | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.639+13397C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826503 | |||||||
| chr16:8826600 | A | C | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+13494A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826600 | |||||||
| chr16:8826628 | C | T | 4 | a0001c0001t0019g0005 a0001c0001t0029g0313 a0001c0001t0033g0039 others(1): Show |
5 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(2): Show |
intron_variant | MODIFIER | c.639+13522C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826628 | |||||||
| chr16:8826667 | A | C | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+13561A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826667 | |||||||
| chr16:8826749 | C | T | 1 | a0001c0001t0003g0328 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.639+13643C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826749 | |||||||
| chr16:8826828 | C | T | 101 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(98): Show |
103 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.639+13722C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826828 | |||||||
| chr16:8826905 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+13799C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826905 | |||||||
| chr16:8826934 | A | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.639+13828A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826934 | |||||||
| chr16:8826942 | T | C | 2 | a0001c0001t0003g0353 a0001c0001t0027g0354 |
2 | NA18981.hp2 NA19054.hp1 |
intron_variant | MODIFIER | c.639+13836T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826942 | |||||||
| chr16:8826983 | A | G | 1 | a0001c0001t0002g0251 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.639+13877A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8826983 | |||||||
| chr16:8827005 | A | G | 4 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0013g0011 others(1): Show |
5 | HG01167.hp1 HG01169.hp1 HG03516.hp1 others(2): Show |
intron_variant | MODIFIER | c.639+13899A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827005 | |||||||
| chr16:8827024 | C | T | 332 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(329): Show |
352 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(349): Show |
intron_variant | MODIFIER | c.639+13918C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827024 | |||||||
| chr16:8827115 | G | T | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG02647.hp2 HG02818.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+14009G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827115 | |||||||
| chr16:8827212 | C | T | 3 | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 |
3 | HG02280.hp2 HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.639+14106C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827212 | |||||||
| chr16:8827313 | C | G | 1 | a0001c0001t0001g0152 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.639+14207C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827313 | |||||||
| chr16:8827328 | C | T | 3 | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 |
3 | HG02280.hp2 HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.639+14222C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827328 | |||||||
| chr16:8827329 | G | T | 1 | a0001c0001t0005g0176 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.639+14223G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827329 | |||||||
| chr16:8827332 | GA | G | 10 | a0001c0001t0001g0361 a0001c0001t0005g0110 a0001c0001t0005g0173 others(7): Show |
10 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.639+14238delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827332 | ||||||
| chr16:8827484 | C | A | 2 | a0001c0001t0029g0313 a0001c0001t0034g0040 |
2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+14378C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827484 | |||||||
| chr16:8827544 | C | T | 2 | a0001c0001t0029g0313 a0001c0001t0034g0040 |
2 | HG02559.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.639+14438C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827544 | |||||||
| chr16:8827545 | G | A | 68 | a0001c0001t0001g0361 a0001c0001t0003g0017 a0001c0001t0003g0018 others(65): Show |
72 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
intron_variant | MODIFIER | c.639+14439G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827545 | |||||||
| chr16:8827565 | T | G | 68 | a0001c0001t0001g0361 a0001c0001t0003g0017 a0001c0001t0003g0018 others(65): Show |
72 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(69): Show |
intron_variant | MODIFIER | c.639+14459T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827565 | |||||||
| chr16:8827616 | G | C | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
158 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(155): Show |
intron_variant | MODIFIER | c.639+14510G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827616 | |||||||
| chr16:8827623 | T | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+14517T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827623 | |||||||
| chr16:8827674 | G | T | 1 | a0001c0001t0002g0198 | 1 | HG01167.hp2 | intron_variant | MODIFIER | c.639+14568G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827674 | |||||||
| chr16:8827719 | C | CAT | 57 | a0001c0001t0001g0305 a0001c0001t0001g0316 a0001c0001t0001g0317 others(54): Show |
61 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(58): Show |
intron_variant | MODIFIER | c.639+14654_639+1465 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | C | CATAT | 18 | a0001c0001t0001g0052 a0001c0001t0002g0013 a0001c0001t0002g0067 others(15): Show |
19 | HG01099.hp2 HG01168.hp2 HG01169.hp2 others(16): Show |
intron_variant | MODIFIER | c.639+14652_639+1465 others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | C | CATATAT | 4 | a0001c0001t0002g0226 a0001c0001t0002g0287 a0001c0001t0005g0177 others(1): Show |
4 | HG01192.hp2 HG02615.hp2 HG02735.hp2 others(1): Show |
intron_variant | MODIFIER | c.639+14650_639+1465 others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | C | CATATATA others(1): Show |
3 | a0001c0001t0002g0225 a0001c0001t0002g0279 a0001c0001t0002g0290 |
3 | HG02129.hp2 NA19002.hp2 NA19009.hp1 |
intron_variant | MODIFIER | c.639+14648_639+1465 others(12): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | C | CATATATA others(3): Show |
2 | a0001c0001t0004g0307 a0001c0001t0006g0033 |
2 | HG02109.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.639+14646_639+1465 others(14): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | C | CATATATA others(5): Show |
1 | a0001c0001t0016g0205 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.639+14644_639+1465 others(16): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | C | T | 2 | a0001c0001t0012g0014 a0001c0001t0030g0298 |
3 | HG02717.hp2 HG02922.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.639+14613C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827719 | |||||||
| chr16:8827719 | CAT | C | 11 | a0001c0001t0001g0318 a0001c0001t0002g0221 a0001c0001t0002g0246 others(8): Show |
11 | HG00621.hp2 HG01069.hp1 HG01256.hp1 others(8): Show |
intron_variant | MODIFIER | c.639+14654_639+1465 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATAT | C | 8 | a0001c0001t0001g0312 a0001c0001t0002g0247 a0001c0001t0002g0253 others(5): Show |
8 | HG01255.hp2 HG01928.hp2 HG02895.hp1 others(5): Show |
intron_variant | MODIFIER | c.639+14652_639+1465 others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATAT | C | 10 | a0001c0001t0002g0198 a0001c0001t0002g0215 a0001c0001t0002g0248 others(7): Show |
10 | HG00423.hp1 HG01167.hp2 HG01243.hp1 others(7): Show |
intron_variant | MODIFIER | c.639+14650_639+1465 others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(1): Show |
C | 5 | a0001c0001t0002g0257 a0001c0001t0003g0353 a0001c0001t0020g0218 others(2): Show |
5 | HG00639.hp2 HG02647.hp1 HG03654.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+14648_639+1465 others(12): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(3): Show |
C | 6 | a0001c0001t0002g0274 a0001c0001t0003g0017 a0001c0001t0003g0333 others(3): Show |
6 | HG02015.hp2 HG02647.hp2 NA18971.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+14646_639+1465 others(14): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(5): Show |
C | 16 | a0001c0001t0001g0361 a0001c0001t0003g0051 a0001c0001t0003g0330 others(13): Show |
17 | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(14): Show |
intron_variant | MODIFIER | c.639+14644_639+1465 others(16): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(7): Show |
C | 40 | a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0020 others(37): Show |
43 | HG00423.hp2 HG00544.hp1 HG00673.hp2 others(40): Show |
intron_variant | MODIFIER | c.639+14642_639+1465 others(18): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(9): Show |
C | 12 | a0001c0001t0002g0219 a0001c0001t0002g0222 a0001c0001t0002g0224 others(9): Show |
12 | HG01934.hp2 HG02074.hp2 HG02559.hp2 others(9): Show |
intron_variant | MODIFIER | c.639+14640_639+1465 others(20): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(13): Show |
C | 1 | a0001c0001t0001g0077 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.639+14636_639+1465 others(24): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(15): Show |
C | 89 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(86): Show |
98 | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(95): Show |
intron_variant | MODIFIER | c.639+14634_639+1465 others(26): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827719 | CATATATA others(19): Show |
C | 1 | a0001c0001t0004g0304 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.639+14630_639+1465 others(30): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827719 | ||||||
| chr16:8827736 | A | AAATGCAC others(5): Show |
2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14630_639+1463 others(16): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827736 | |||||||
| chr16:8827738 | A | ATATGCAC others(5): Show |
1 | a0001c0001t0001g0167 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.639+14635_639+1463 others(16): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827738 | ||||||
| chr16:8827738 | A | ATGCACAC others(3): Show |
56 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(53): Show |
60 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.639+14633_639+1463 others(14): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827738 | ||||||
| chr16:8827740 | A | T | 2 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | HG01891.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.639+14634A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827740 | |||||||
| chr16:8827745 | TATATATA others(15): Show |
T | 2 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | HG01891.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.639+14642_639+1466 others(26): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827745 | ||||||
| chr16:8827748 | A | ATATATAT others(11): Show |
1 | a0001c0001t0004g0296 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.639+14651_639+1465 others(22): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827748 | ||||||
| chr16:8827750 | A | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14644A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827750 | |||||||
| chr16:8827752 | A | T | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14646A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827752 | |||||||
| chr16:8827760 | A | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14654A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827760 | |||||||
| chr16:8827762 | G | A | 2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14656G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827762 | |||||||
| chr16:8827762 | G | T | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14656G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827762 | |||||||
| chr16:8827763 | C | T | 59 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(56): Show |
63 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(60): Show |
intron_variant | MODIFIER | c.639+14657C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827763 | |||||||
| chr16:8827765 | C | T | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14659C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827765 | |||||||
| chr16:8827767 | C | T | 2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14661C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827767 | |||||||
| chr16:8827770 | T | A | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14664T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827770 | |||||||
| chr16:8827770 | TTA | T | 106 | a0001c0001t0001g0316 a0001c0001t0002g0012 a0001c0001t0002g0013 others(103): Show |
108 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(105): Show |
intron_variant | MODIFIER | c.639+14676_639+1467 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827770 | ||||||
| chr16:8827772 | A | T | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14666A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827772 | |||||||
| chr16:8827774 | A | G | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+14668A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827774 | |||||||
| chr16:8827777 | T | TTTATTTA others(4): Show |
2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14671_639+1467 others(15): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827777 | |||||||
| chr16:8827780 | A | T | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14674A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827780 | |||||||
| chr16:8827787 | T | TATA | 56 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(53): Show |
60 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.639+14682_639+1468 others(7): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827787 | ||||||
| chr16:8827789 | T | C | 11 | a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0005g0110 others(8): Show |
11 | HG01192.hp2 HG02451.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.639+14683T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827789 | |||||||
| chr16:8827789 | T | TAATATAT others(15): Show |
1 | a0001c0001t0001g0133 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.639+14684_639+1468 others(26): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827789 | ||||||
| chr16:8827793 | T | TA | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14687_639+1468 others(5): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827793 | |||||||
| chr16:8827793 | T | TTGTATAA others(4): Show |
2 | a0001c0001t0001g0116 a0001c0001t0001g0134 |
2 | NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14688_639+1468 others(15): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827793 | ||||||
| chr16:8827795 | T | A | 3 | a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0134 |
3 | HG02071.hp2 NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14689T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827795 | |||||||
| chr16:8827798 | ACATATT | A | 11 | a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0005g0110 others(8): Show |
11 | HG01192.hp2 HG02451.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.639+14693_639+1469 others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827798 | |||||||
| chr16:8827799 | C | T | 59 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(56): Show |
63 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(60): Show |
intron_variant | MODIFIER | c.639+14693C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827799 | |||||||
| chr16:8827804 | T | TA | 3 | a0001c0001t0001g0116 a0001c0001t0001g0133 a0001c0001t0001g0134 |
3 | HG02071.hp2 NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.639+14698_639+1469 others(5): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827804 | |||||||
| chr16:8827804 | T | TGTATAAT others(6): Show |
2 | a0001c0001t0001g0049 a0001c0001t0001g0061 |
2 | HG03831.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.639+14698_639+1469 others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827804 | |||||||
| chr16:8827804 | T | TGTATAAT others(15): Show |
53 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(50): Show |
57 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(54): Show |
intron_variant | MODIFIER | c.639+14698_639+1469 others(26): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827804 | |||||||
| chr16:8827804 | T | TGTATAAT others(45): Show |
1 | a0001c0001t0001g0152 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.639+14698_639+1469 others(56): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827804 | |||||||
| chr16:8827808 | A | ATATT | 175 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(172): Show |
189 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(186): Show |
intron_variant | MODIFIER | c.639+14706_639+1470 others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827808 | ||||||
| chr16:8827808 | A | T | 11 | a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0005g0110 others(8): Show |
11 | HG01192.hp2 HG02451.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.639+14702A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827808 | |||||||
| chr16:8827812 | T | TATATATA others(6): Show |
2 | a0001c0001t0001g0049 a0001c0001t0001g0061 |
2 | HG03831.hp1 HG04184.hp2 |
intron_variant | MODIFIER | c.639+14706_639+1470 others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827812 | |||||||
| chr16:8827812 | T | TGTATAA | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.639+14706_639+1470 others(10): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827812 | |||||||
| chr16:8827814 | A | G | 1 | a0001c0001t0002g0188 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.639+14708A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827814 | |||||||
| chr16:8827825 | A | G | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.639+14719A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827825 | |||||||
| chr16:8827837 | GTATAATA | G | 70 | a0001c0001t0001g0361 a0001c0001t0003g0017 a0001c0001t0003g0018 others(67): Show |
74 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.639+14743_639+1474 others(11): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827837 | ||||||
| chr16:8827843 | TATATA | T | 4 | a0001c0001t0002g0276 a0001c0001t0005g0170 a0001c0001t0005g0171 others(1): Show |
4 | HG02647.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+14743_639+1474 others(9): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827843 | ||||||
| chr16:8827845 | TATA | T | 97 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(94): Show |
99 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
intron_variant | MODIFIER | c.639+14743_639+1474 others(7): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827845 | ||||||
| chr16:8827847 | TA | T | 5 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(2): Show |
5 | HG02109.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+14743delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827847 | ||||||
| chr16:8827848 | A | ATATATGT others(8): Show |
1 | a0001c0001t0009g0027 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.639+14742_639+1474 others(19): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827848 | |||||||
| chr16:8827848 | A | ATATGTTA others(6): Show |
2 | a0001c0001t0009g0028 a0001c0001t0009g0029 |
2 | HG02145.hp1 NA19030.hp2 |
intron_variant | MODIFIER | c.639+14742_639+1474 others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827848 | |||||||
| chr16:8827857 | G | T | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+14751G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827857 | |||||||
| chr16:8827858 | T | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+14752T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827858 | |||||||
| chr16:8827859 | T | TATATAAT others(5): Show |
3 | a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0029 |
3 | HG02145.hp1 HG03098.hp2 NA19030.hp2 |
intron_variant | MODIFIER | c.639+14758_639+1475 others(16): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827859 | ||||||
| chr16:8827859 | T | TATATATT others(23): Show |
5 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(2): Show |
5 | HG02109.hp1 HG02559.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+14760_639+1478 others(34): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827859 | ||||||
| chr16:8827866 | T | TGTATAAT others(21): Show |
1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.639+14760_639+1476 others(32): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827866 | |||||||
| chr16:8827869 | A | G | 1 | a0001c0001t0002g0067 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.639+14763A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827869 | |||||||
| chr16:8827875 | G | A | 6 | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show |
6 | HG00597.hp1 NA18747.hp2 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+14769G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827875 | |||||||
| chr16:8827878 | A | G | 6 | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show |
6 | HG00597.hp1 NA18747.hp2 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+14772A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827878 | |||||||
| chr16:8827882 | A | AATATATG others(18): Show |
2 | a0001c0001t0017g0024 a0001c0001t0017g0025 |
2 | HG02809.hp1 HG02895.hp1 |
intron_variant | MODIFIER | c.639+14789_639+1479 others(29): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827882 | ||||||
| chr16:8827882 | AATATATG others(2): Show |
A | 104 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(101): Show |
106 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(103): Show |
intron_variant | MODIFIER | c.639+14792_639+1480 others(13): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827882 | ||||||
| chr16:8827891 | T | TATATAAT others(19): Show |
1 | a0001c0001t0001g0087 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.639+14790_639+1479 others(30): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827891 | ||||||
| chr16:8827896 | ATG | A | 152 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(149): Show |
166 | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(163): Show |
intron_variant | MODIFIER | c.639+14791_639+1479 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827896 | |||||||
| chr16:8827898 | G | A | 1 | a0001c0001t0001g0087 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.639+14792G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827898 | |||||||
| chr16:8827898 | G | T | 4 | a0001c0001t0002g0278 a0001c0001t0003g0056 a0001c0001t0003g0321 others(1): Show |
4 | HG00735.hp1 HG01928.hp1 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.639+14792G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827898 | |||||||
| chr16:8827906 | TTATATAT others(4): Show |
T | 1 | a0001c0001t0002g0278 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.639+14802_639+1481 others(15): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827906 | ||||||
| chr16:8827944 | A | AAT | 329 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(326): Show |
349 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(346): Show |
intron_variant | MODIFIER | c.639+14847_639+1484 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827944 | ||||||
| chr16:8827963 | T | TTA | 94 | a0001c0001t0001g0361 a0001c0001t0003g0017 a0001c0001t0003g0018 others(91): Show |
100 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(97): Show |
intron_variant | MODIFIER | c.639+14870_639+1487 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827963 | ||||||
| chr16:8827963 | T | TTATA | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.639+14868_639+1487 others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8827963 | ||||||
| chr16:8827991 | C | A | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.639+14885C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827991 | |||||||
| chr16:8827996 | T | A | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.639+14890T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8827996 | |||||||
| chr16:8828025 | C | CT | 8 | a0001c0001t0002g0195 a0001c0001t0002g0227 a0001c0001t0002g0231 others(5): Show |
9 | HG00280.hp1 HG00323.hp1 HG01069.hp1 others(6): Show |
intron_variant | MODIFIER | c.639+14940dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8828025 | ||||||
| chr16:8828025 | C | CTT | 91 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0119 others(88): Show |
93 | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(90): Show |
intron_variant | MODIFIER | c.639+14939_639+1494 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8828025 | ||||||
| chr16:8828025 | C | CTTT | 138 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(135): Show |
151 | HG00323.hp2 HG00408.hp1 HG00438.hp1 others(148): Show |
intron_variant | MODIFIER | c.639+14938_639+1494 others(7): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8828025 | ||||||
| chr16:8828025 | C | CTTTT | 17 | a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0001g0086 others(14): Show |
18 | HG00673.hp1 HG01167.hp1 HG01169.hp1 others(15): Show |
intron_variant | MODIFIER | c.639+14937_639+1494 others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8828025 | ||||||
| chr16:8828025 | CT | C | 23 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(20): Show |
23 | HG00621.hp1 HG01255.hp2 HG01891.hp2 others(20): Show |
intron_variant | MODIFIER | c.639+14940delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8828025 | ||||||
| chr16:8828025 | CTT | C | 76 | a0001c0001t0001g0361 a0001c0001t0002g0221 a0001c0001t0003g0017 others(73): Show |
80 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(77): Show |
intron_variant | MODIFIER | c.639+14939_639+1494 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8828025 | ||||||
| chr16:8828082 | A | G | 3 | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 |
3 | HG02280.hp2 HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.639+14976A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828082 | |||||||
| chr16:8828181 | A | G | 349 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(346): Show |
370 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(367): Show |
intron_variant | MODIFIER | c.639+15075A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828181 | |||||||
| chr16:8828265 | T | C | 1 | a0001c0001t0001g0168 | 1 | NA18951.hp2 | intron_variant | MODIFIER | c.639+15159T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828265 | |||||||
| chr16:8828319 | A | C | 1 | a0001c0001t0001g0169 | 1 | HG04115.hp2 | intron_variant | MODIFIER | c.639+15213A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828319 | |||||||
| chr16:8828347 | C | G | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.639+15241C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828347 | |||||||
| chr16:8828432 | G | T | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.639+15326G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828432 | |||||||
| chr16:8828465 | G | C | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.639+15359G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828465 | |||||||
| chr16:8828514 | C | T | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.639+15408C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828514 | |||||||
| chr16:8828529 | T | C | 69 | a0001c0001t0001g0057 a0001c0001t0001g0361 a0001c0001t0003g0017 others(66): Show |
73 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(70): Show |
intron_variant | MODIFIER | c.639+15423T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828529 | |||||||
| chr16:8828544 | G | C | 6 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(3): Show |
6 | HG01255.hp2 HG02273.hp2 HG02280.hp1 others(3): Show |
intron_variant | MODIFIER | c.639+15438G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828544 | |||||||
| chr16:8828749 | C | T | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.639+15643C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828749 | |||||||
| chr16:8828871 | G | A | 1 | a0001c0001t0002g0060 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.639+15765G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828871 | |||||||
| chr16:8828952 | T | C | 342 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(339): Show |
361 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(358): Show |
intron_variant | MODIFIER | c.639+15846T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8828952 | |||||||
| chr16:8829058 | G | A | 65 | a0001c0001t0001g0361 a0001c0001t0003g0017 a0001c0001t0003g0018 others(62): Show |
68 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(65): Show |
intron_variant | MODIFIER | c.639+15952G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829058 | |||||||
| chr16:8829068 | A | C | 1 | a0001c0001t0004g0295 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.639+15962A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829068 | |||||||
| chr16:8829136 | T | C | 11 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(8): Show |
11 | HG01192.hp2 HG01346.hp1 HG02622.hp2 others(8): Show |
intron_variant | MODIFIER | c.639+16030T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829136 | |||||||
| chr16:8829137 | G | A | 241 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(238): Show |
258 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(255): Show |
intron_variant | MODIFIER | c.639+16031G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829137 | |||||||
| chr16:8829176 | T | C | 10 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(7): Show |
10 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(7): Show |
intron_variant | MODIFIER | c.639+16070T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829176 | |||||||
| chr16:8829229 | T | G | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.639+16123T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829229 | |||||||
| chr16:8829358 | A | C | 348 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(345): Show |
369 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(366): Show |
intron_variant | MODIFIER | c.639+16252A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829358 | |||||||
| chr16:8829381 | G | T | 1 | a0001c0001t0001g0185 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.639+16275G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829381 | |||||||
| chr16:8829411 | G | A | 3 | a0001c0001t0003g0022 a0001c0001t0003g0373 a0001c0001t0003g0374 |
4 | HG01074.hp1 HG01175.hp2 HG01515.hp1 others(1): Show |
intron_variant | MODIFIER | c.639+16305G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829411 | |||||||
| chr16:8829517 | G | T | 65 | a0001c0001t0001g0361 a0001c0001t0003g0017 a0001c0001t0003g0018 others(62): Show |
68 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(65): Show |
intron_variant | MODIFIER | c.639+16411G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829517 | |||||||
| chr16:8829638 | C | G | 92 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(89): Show |
94 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(91): Show |
intron_variant | MODIFIER | c.639+16532C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829638 | |||||||
| chr16:8829639 | C | T | 1 | a0001c0001t0002g0213 | 1 | NA18942.hp2 | intron_variant | MODIFIER | c.639+16533C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829639 | |||||||
| chr16:8829645 | C | A | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.639+16539C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829645 | |||||||
| chr16:8829646 | C | T | 1 | a0001c0001t0002g0245 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.639+16540C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829646 | |||||||
| chr16:8829712 | T | C | 1 | a0001c0001t0014g0042 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.639+16606T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829712 | |||||||
| chr16:8829720 | C | T | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.639+16614C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829720 | |||||||
| chr16:8829724 | G | C | 1 | a0001c0001t0001g0137 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.639+16618G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829724 | |||||||
| chr16:8829735 | C | T | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.639+16629C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829735 | |||||||
| chr16:8829745 | A | G | 1 | a0001c0001t0001g0089 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.639+16639A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829745 | |||||||
| chr16:8829912 | C | G | 71 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0361 others(68): Show |
74 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.639+16806C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829912 | |||||||
| chr16:8829915 | C | T | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.639+16809C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829915 | |||||||
| chr16:8829978 | G | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.639+16872G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8829978 | |||||||
| chr16:8830157 | C | G | 2 | a0001c0001t0001g0076 a0001c0001t0001g0093 |
2 | NA18989.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.639+17051C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830157 | |||||||
| chr16:8830180 | C | T | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.639+17074C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830180 | |||||||
| chr16:8830215 | G | A | 1 | a0001c0001t0001g0044 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.639+17109G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830215 | |||||||
| chr16:8830225 | G | A | 2 | a0001c0001t0001g0112 a0001c0001t0001g0186 |
2 | HG01255.hp1 HG01496.hp2 |
intron_variant | MODIFIER | c.639+17119G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830225 | |||||||
| chr16:8830239 | G | A | 146 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(143): Show |
160 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(157): Show |
intron_variant | MODIFIER | c.639+17133G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830239 | |||||||
| chr16:8830354 | A | G | 1 | a0001c0001t0001g0084 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.639+17248A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830354 | |||||||
| chr16:8830423 | A | G | 101 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(98): Show |
103 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.640-17301A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830423 | |||||||
| chr16:8830729 | G | T | 7 | a0001c0001t0002g0067 a0001c0001t0002g0252 a0001c0001t0002g0290 others(4): Show |
7 | HG02056.hp2 HG02129.hp2 NA18952.hp2 others(4): Show |
intron_variant | MODIFIER | c.640-16995G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830729 | |||||||
| chr16:8830789 | G | C | 101 | a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0067 others(98): Show |
103 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(100): Show |
intron_variant | MODIFIER | c.640-16935G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830789 | |||||||
| chr16:8830898 | A | G | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.640-16826A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830898 | |||||||
| chr16:8830939 | C | G | 339 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(336): Show |
360 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(357): Show |
intron_variant | MODIFIER | c.640-16785C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8830939 | |||||||
| chr16:8831051 | A | T | 68 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0361 others(65): Show |
71 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(68): Show |
intron_variant | MODIFIER | c.640-16673A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831051 | |||||||
| chr16:8831077 | T | G | 68 | a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0361 others(65): Show |
71 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(68): Show |
intron_variant | MODIFIER | c.640-16647T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831077 | |||||||
| chr16:8831138 | C | CA | 6 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(3): Show |
6 | HG02647.hp2 HG02818.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-16581dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8831138 | ||||||
| chr16:8831144 | C | CA | 12 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(9): Show |
12 | HG01255.hp2 HG01891.hp2 HG02258.hp1 others(9): Show |
intron_variant | MODIFIER | c.640-16572dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8831144 | ||||||
| chr16:8831199 | G | A | 345 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(342): Show |
366 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(363): Show |
intron_variant | MODIFIER | c.640-16525G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831199 | |||||||
| chr16:8831215 | A | G | 1 | a0001c0001t0004g0300 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.640-16509A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831215 | |||||||
| chr16:8831243 | T | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-16481T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831243 | |||||||
| chr16:8831376 | T | C | 350 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(347): Show |
371 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(368): Show |
intron_variant | MODIFIER | c.640-16348T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831376 | |||||||
| chr16:8831379 | C | A | 2 | a0001c0001t0001g0006 a0001c0001t0001g0085 |
3 | NA18612.hp2 NA18964.hp2 NA18986.hp1 |
intron_variant | MODIFIER | c.640-16345C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831379 | |||||||
| chr16:8831547 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.640-16177G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831547 | |||||||
| chr16:8831677 | T | C | 1 | a0001c0001t0001g0074 | 1 | HG02135.hp1 | intron_variant | MODIFIER | c.640-16047T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831677 | |||||||
| chr16:8831785 | C | T | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-15939C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831785 | |||||||
| chr16:8831839 | G | A | 2 | a0001c0001t0001g0086 a0001c0001t0001g0087 |
2 | HG00323.hp2 HG01496.hp1 |
intron_variant | MODIFIER | c.640-15885G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831839 | |||||||
| chr16:8831867 | G | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-15857G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831867 | |||||||
| chr16:8831922 | C | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-15802C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831922 | |||||||
| chr16:8831922 | C | T | 2 | a0001c0001t0006g0201 a0001c0001t0006g0202 |
2 | HG03486.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.640-15802C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831922 | |||||||
| chr16:8831999 | A | G | 1 | a0001c0001t0002g0240 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.640-15725A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8831999 | |||||||
| chr16:8832052 | C | T | 9 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0010g0034 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.640-15672C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832052 | |||||||
| chr16:8832118 | C | T | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-15606C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832118 | |||||||
| chr16:8832168 | A | C | 8 | a0001c0001t0001g0021 a0001c0001t0001g0109 a0001c0001t0001g0363 others(5): Show |
9 | HG01891.hp1 HG02723.hp2 HG03130.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-15556A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832168 | |||||||
| chr16:8832280 | C | T | 2 | a0001c0001t0010g0034 a0001c0001t0014g0042 |
2 | HG01891.hp2 HG02257.hp2 |
intron_variant | MODIFIER | c.640-15444C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832280 | |||||||
| chr16:8832298 | C | T | 1 | a0001c0001t0002g0221 | 1 | HG00621.hp2 | intron_variant | MODIFIER | c.640-15426C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832298 | |||||||
| chr16:8832504 | C | T | 2 | a0001c0001t0001g0142 a0001c0001t0001g0143 |
2 | NA18940.hp2 NA18991.hp1 |
intron_variant | MODIFIER | c.640-15220C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832504 | |||||||
| chr16:8832509 | C | T | 2 | a0001c0001t0003g0348 a0001c0001t0033g0039 |
2 | HG01346.hp1 HG02004.hp1 |
intron_variant | MODIFIER | c.640-15215C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832509 | |||||||
| chr16:8832657 | A | T | 1 | a0001c0001t0001g0151 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.640-15067A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832657 | |||||||
| chr16:8832741 | C | T | 234 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(231): Show |
248 | HG00323.hp2 HG00408.hp2 HG00423.hp1 others(245): Show |
intron_variant | MODIFIER | c.640-14983C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832741 | |||||||
| chr16:8832746 | A | C | 216 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(213): Show |
227 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(224): Show |
intron_variant | MODIFIER | c.640-14978A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832746 | |||||||
| chr16:8832747 | C | T | 212 | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 others(209): Show |
223 | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(220): Show |
intron_variant | MODIFIER | c.640-14977C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832747 | |||||||
| chr16:8832749 | C | T | 2 | a0001c0001t0005g0171 a0001c0001t0005g0172 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.640-14975C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832749 | |||||||
| chr16:8832762 | G | C | 3 | a0001c0001t0009g0027 a0001c0001t0010g0036 a0001c0001t0022g0322 |
3 | HG03098.hp2 HG03540.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.640-14962G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832762 | |||||||
| chr16:8832764 | G | C | 282 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(279): Show |
306 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
intron_variant | MODIFIER | c.640-14960G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832764 | |||||||
| chr16:8832776 | CTG | C | 3 | a0001c0001t0001g0069 a0001c0001t0019g0005 a0001c0001t0039g0264 |
4 | HG00642.hp1 HG01106.hp2 HG01109.hp2 others(1): Show |
intron_variant | MODIFIER | c.640-14945_640-1494 others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8832776 | ||||||
| chr16:8832787 | G | A | 1 | a0001c0001t0017g0025 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.640-14937G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832787 | |||||||
| chr16:8832796 | C | T | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.640-14928C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832796 | |||||||
| chr16:8832800 | C | T | 1 | a0001c0001t0016g0204 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.640-14924C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832800 | |||||||
| chr16:8832877 | C | T | 1 | a0001c0001t0001g0152 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.640-14847C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832877 | |||||||
| chr16:8832934 | C | T | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.640-14790C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832934 | |||||||
| chr16:8832965 | C | CCCCGACC others(12): Show |
145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
155 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.640-14756_640-1475 others(23): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8832965 | ||||||
| chr16:8832970 | G | A | 1 | a0001c0001t0002g0294 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.640-14754G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8832970 | |||||||
| chr16:8833001 | G | A | 56 | a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0001t0003g0017 others(53): Show |
60 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(57): Show |
intron_variant | MODIFIER | c.640-14723G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833001 | |||||||
| chr16:8833031 | G | C | 3 | a0001c0001t0002g0223 a0001c0001t0002g0251 a0001c0001t0002g0262 |
3 | NA18940.hp1 NA18981.hp1 NA18989.hp2 |
intron_variant | MODIFIER | c.640-14693G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833031 | |||||||
| chr16:8833055 | G | A | 5 | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 others(2): Show |
5 | HG00597.hp1 NA18747.hp2 NA18977.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-14669G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833055 | |||||||
| chr16:8833075 | G | A | 113 | a0001c0001t0001g0044 a0001c0001t0002g0012 a0001c0001t0002g0013 others(110): Show |
116 | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(113): Show |
intron_variant | MODIFIER | c.640-14649G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833075 | |||||||
| chr16:8833094 | T | C | 63 | a0001c0001t0001g0314 a0001c0001t0002g0242 a0001c0001t0002g0263 others(60): Show |
66 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(63): Show |
intron_variant | MODIFIER | c.640-14630T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833094 | |||||||
| chr16:8833103 | T | A | 6 | a0001c0001t0003g0331 a0001c0001t0006g0031 a0001c0001t0006g0032 others(3): Show |
6 | HG02109.hp1 HG02559.hp1 HG02615.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-14621T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833103 | |||||||
| chr16:8833189 | T | C | 1 | a0001c0001t0001g0137 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.640-14535T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833189 | |||||||
| chr16:8833194 | G | A | 1 | a0001c0001t0001g0058 | 1 | NA19080.hp2 | intron_variant | MODIFIER | c.640-14530G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833194 | |||||||
| chr16:8833218 | C | T | 6 | a0001c0001t0002g0252 a0001c0001t0002g0290 a0001c0001t0002g0291 others(3): Show |
6 | HG02056.hp2 HG02129.hp2 NA18952.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-14506C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833218 | |||||||
| chr16:8833219 | G | A | 1 | a0001c0001t0001g0111 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.640-14505G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833219 | |||||||
| chr16:8833247 | T | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(137): Show |
151 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.640-14477T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833247 | |||||||
| chr16:8833267 | A | T | 106 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0045 others(103): Show |
112 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(109): Show |
intron_variant | MODIFIER | c.640-14457A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833267 | |||||||
| chr16:8833318 | T | A | 1 | a0001c0001t0010g0034 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.640-14406T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833318 | |||||||
| chr16:8833367 | T | C | 140 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(137): Show |
151 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(148): Show |
intron_variant | MODIFIER | c.640-14357T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833367 | |||||||
| chr16:8833428 | C | T | 9 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(6): Show |
10 | HG01167.hp1 HG01169.hp1 HG01255.hp2 others(7): Show |
intron_variant | MODIFIER | c.640-14296C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833428 | |||||||
| chr16:8833515 | G | A | 74 | a0001c0001t0001g0112 a0001c0001t0003g0017 a0001c0001t0003g0018 others(71): Show |
79 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(76): Show |
intron_variant | MODIFIER | c.640-14209G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833515 | |||||||
| chr16:8833523 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-14201G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833523 | |||||||
| chr16:8833525 | T | C | 2 | a0001c0001t0004g0295 a0001c0001t0004g0307 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.640-14199T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833525 | |||||||
| chr16:8833536 | A | G | 79 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(76): Show |
84 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(81): Show |
intron_variant | MODIFIER | c.640-14188A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833536 | |||||||
| chr16:8833561 | A | G | 208 | a0001c0001t0001g0156 a0001c0001t0002g0002 a0001c0001t0002g0012 others(205): Show |
216 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(213): Show |
intron_variant | MODIFIER | c.640-14163A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833561 | |||||||
| chr16:8833563 | G | C | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-14161G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833563 | |||||||
| chr16:8833587 | C | T | 1 | a0001c0001t0003g0054 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.640-14137C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833587 | |||||||
| chr16:8833600 | G | A | 1 | a0001c0001t0002g0233 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.640-14124G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833600 | |||||||
| chr16:8833662 | T | C | 1 | a0001c0001t0002g0099 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.640-14062T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833662 | |||||||
| chr16:8833670 | A | T | 1 | a0001c0001t0002g0099 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.640-14054A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833670 | |||||||
| chr16:8833686 | C | T | 73 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-14038C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833686 | |||||||
| chr16:8833690 | C | T | 73 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-14034C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833690 | |||||||
| chr16:8833691 | G | C | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-14033G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833691 | |||||||
| chr16:8833712 | C | A | 1 | a0003c0004t0003g0345 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.640-14012C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833712 | |||||||
| chr16:8833736 | C | G | 72 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(69): Show |
77 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(74): Show |
intron_variant | MODIFIER | c.640-13988C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833736 | |||||||
| chr16:8833782 | T | A | 1 | a0001c0001t0002g0248 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.640-13942T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833782 | |||||||
| chr16:8833801 | T | C | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-13923T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833801 | |||||||
| chr16:8833803 | T | G | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-13921T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833803 | |||||||
| chr16:8833830 | A | G | 1 | a0001c0001t0004g0217 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.640-13894A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833830 | |||||||
| chr16:8833863 | T | C | 96 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(93): Show |
101 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(98): Show |
intron_variant | MODIFIER | c.640-13861T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833863 | |||||||
| chr16:8833868 | A | G | 20 | a0001c0001t0004g0004 a0001c0001t0004g0015 a0001c0001t0004g0217 others(17): Show |
24 | HG00741.hp2 HG01243.hp1 HG01256.hp1 others(21): Show |
intron_variant | MODIFIER | c.640-13856A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833868 | |||||||
| chr16:8833890 | G | C | 1 | a0001c0001t0001g0105 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.640-13834G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833890 | |||||||
| chr16:8833921 | T | G | 2 | a0001c0001t0001g0062 a0001c0001t0001g0064 |
2 | NA18988.hp2 NA18994.hp2 |
intron_variant | MODIFIER | c.640-13803T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833921 | |||||||
| chr16:8833936 | ACAGTGTA others(6): Show |
A | 7 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(4): Show |
7 | HG01891.hp2 HG02055.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.640-13777_640-1376 others(17): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8833936 | ||||||
| chr16:8833975 | A | G | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-13749A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833975 | |||||||
| chr16:8833990 | T | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13734T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833990 | |||||||
| chr16:8833993 | C | A | 3 | a0001c0001t0003g0343 a0001c0001t0003g0355 a0008c0008t0003g0122 |
3 | HG02080.hp2 NA18973.hp1 NA19082.hp1 |
intron_variant | MODIFIER | c.640-13731C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833993 | |||||||
| chr16:8833993 | C | T | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13731C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8833993 | |||||||
| chr16:8834000 | G | T | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13724G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834000 | |||||||
| chr16:8834002 | A | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13722A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834002 | |||||||
| chr16:8834016 | G | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13708G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834016 | |||||||
| chr16:8834021 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13703A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834021 | |||||||
| chr16:8834028 | A | G | 1 | a0001c0001t0001g0066 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.640-13696A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834028 | |||||||
| chr16:8834040 | G | T | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13684G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834040 | |||||||
| chr16:8834041 | G | T | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13683G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834041 | |||||||
| chr16:8834115 | C | T | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.640-13609C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834115 | |||||||
| chr16:8834196 | C | A | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-13528C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834196 | |||||||
| chr16:8834252 | A | G | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-13472A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834252 | |||||||
| chr16:8834262 | T | G | 1 | a0001c0001t0001g0318 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.640-13462T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834262 | |||||||
| chr16:8834278 | C | T | 360 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(357): Show |
382 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(379): Show |
intron_variant | MODIFIER | c.640-13446C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834278 | |||||||
| chr16:8834279 | T | G | 360 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(357): Show |
382 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(379): Show |
intron_variant | MODIFIER | c.640-13445T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834279 | |||||||
| chr16:8834320 | G | A | 5 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0013g0011 others(2): Show |
6 | HG01167.hp1 HG01169.hp1 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-13404G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834320 | |||||||
| chr16:8834323 | A | G | 5 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0013g0011 others(2): Show |
6 | HG01167.hp1 HG01169.hp1 HG01346.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-13401A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834323 | |||||||
| chr16:8834332 | G | C | 3 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0033g0039 |
3 | HG01346.hp1 NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-13392G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834332 | |||||||
| chr16:8834338 | T | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-13386T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834338 | |||||||
| chr16:8834344 | G | A | 3 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0033g0039 |
3 | HG01346.hp1 NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-13380G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834344 | |||||||
| chr16:8834357 | C | T | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-13367C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834357 | |||||||
| chr16:8834358 | G | A | 1 | a0001c0001t0006g0031 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.640-13366G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834358 | |||||||
| chr16:8834368 | T | C | 3 | a0001c0001t0003g0019 a0001c0001t0003g0344 a0001c0001t0003g0350 |
4 | HG01192.hp1 HG01978.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-13356T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834368 | |||||||
| chr16:8834402 | T | C | 71 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(68): Show |
76 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.640-13322T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834402 | |||||||
| chr16:8834429 | C | T | 1 | a0001c0001t0003g0328 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.640-13295C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834429 | |||||||
| chr16:8834462 | C | G | 7 | a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 others(4): Show |
7 | HG02145.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.640-13262C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834462 | |||||||
| chr16:8834471 | T | C | 7 | a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 others(4): Show |
7 | HG02145.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.640-13253T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834471 | |||||||
| chr16:8834487 | T | C | 7 | a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 others(4): Show |
7 | HG02145.hp1 HG02717.hp1 HG02809.hp1 others(4): Show |
intron_variant | MODIFIER | c.640-13237T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834487 | |||||||
| chr16:8834492 | G | C | 247 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(244): Show |
264 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(261): Show |
intron_variant | MODIFIER | c.640-13232G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834492 | |||||||
| chr16:8834568 | T | C | 158 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(155): Show |
170 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(167): Show |
intron_variant | MODIFIER | c.640-13156T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834568 | |||||||
| chr16:8834580 | G | C | 4 | a0001c0001t0002g0212 a0001c0001t0002g0271 a0001c0001t0002g0272 others(1): Show |
4 | NA18965.hp1 NA18988.hp1 NA19068.hp2 others(1): Show |
intron_variant | MODIFIER | c.640-13144G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834580 | |||||||
| chr16:8834611 | C | A | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-13113C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834611 | |||||||
| chr16:8834659 | G | C | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-13065G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834659 | |||||||
| chr16:8834674 | C | T | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.640-13050C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834674 | |||||||
| chr16:8834693 | C | G | 129 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(126): Show |
133 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(130): Show |
intron_variant | MODIFIER | c.640-13031C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834693 | |||||||
| chr16:8834699 | A | G | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.640-13025A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834699 | |||||||
| chr16:8834705 | C | T | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.640-13019C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834705 | |||||||
| chr16:8834724 | A | G | 12 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(9): Show |
12 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.640-13000A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834724 | |||||||
| chr16:8834755 | G | A | 1 | a0001c0001t0001g0166 | 1 | HG04199.hp2 | intron_variant | MODIFIER | c.640-12969G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834755 | |||||||
| chr16:8834773 | C | T | 1 | a0003c0004t0003g0370 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.640-12951C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834773 | |||||||
| chr16:8834806 | G | A | 1 | a0001c0001t0003g0050 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.640-12918G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834806 | |||||||
| chr16:8834825 | A | G | 1 | a0001c0001t0001g0314 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.640-12899A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834825 | |||||||
| chr16:8834825 | A | T | 158 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(155): Show |
170 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(167): Show |
intron_variant | MODIFIER | c.640-12899A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834825 | |||||||
| chr16:8834832 | A | G | 17 | a0001c0001t0003g0054 a0001c0001t0006g0031 a0001c0001t0006g0032 others(14): Show |
18 | HG01106.hp2 HG01109.hp2 HG01261.hp1 others(15): Show |
intron_variant | MODIFIER | c.640-12892A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834832 | |||||||
| chr16:8834834 | T | C | 1 | a0001c0001t0001g0363 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.640-12890T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834834 | |||||||
| chr16:8834861 | G | A | 1 | a0001c0001t0004g0301 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.640-12863G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834861 | |||||||
| chr16:8834863 | T | C | 1 | a0001c0001t0004g0301 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.640-12861T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834863 | |||||||
| chr16:8834886 | G | T | 1 | a0001c0001t0002g0265 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.640-12838G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834886 | |||||||
| chr16:8834899 | T | C | 1 | a0001c0001t0005g0110 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.640-12825T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834899 | |||||||
| chr16:8834922 | G | A | 100 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(97): Show |
104 | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(101): Show |
intron_variant | MODIFIER | c.640-12802G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834922 | |||||||
| chr16:8834961 | T | G | 1 | a0001c0001t0015g0319 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.640-12763T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834961 | |||||||
| chr16:8834981 | G | A | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-12743G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8834981 | |||||||
| chr16:8835001 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-12723A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835001 | |||||||
| chr16:8835008 | A | G | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.640-12716A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835008 | |||||||
| chr16:8835037 | C | T | 158 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(155): Show |
170 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(167): Show |
intron_variant | MODIFIER | c.640-12687C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835037 | |||||||
| chr16:8835068 | T | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-12656T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835068 | |||||||
| chr16:8835078 | T | G | 148 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
160 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(157): Show |
intron_variant | MODIFIER | c.640-12646T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835078 | |||||||
| chr16:8835080 | C | G | 359 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(356): Show |
381 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
intron_variant | MODIFIER | c.640-12644C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835080 | |||||||
| chr16:8835118 | C | T | 143 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(140): Show |
155 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.640-12606C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835118 | |||||||
| chr16:8835120 | C | G | 143 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(140): Show |
155 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.640-12604C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835120 | |||||||
| chr16:8835125 | A | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-12599A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835125 | |||||||
| chr16:8835131 | G | A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-12593G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835131 | |||||||
| chr16:8835142 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-12582A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835142 | |||||||
| chr16:8835149 | G | C | 132 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(129): Show |
143 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(140): Show |
intron_variant | MODIFIER | c.640-12575G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835149 | |||||||
| chr16:8835153 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-12571A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835153 | |||||||
| chr16:8835172 | G | C | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-12552G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835172 | |||||||
| chr16:8835180 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-12544G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835180 | |||||||
| chr16:8835181 | T | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-12543T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835181 | |||||||
| chr16:8835182 | G | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-12542G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835182 | |||||||
| chr16:8835183 | T | C | 292 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(289): Show |
310 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(307): Show |
intron_variant | MODIFIER | c.640-12541T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835183 | |||||||
| chr16:8835194 | G | C | 78 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(75): Show |
83 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(80): Show |
intron_variant | MODIFIER | c.640-12530G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835194 | |||||||
| chr16:8835214 | G | A | 16 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(13): Show |
17 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(14): Show |
intron_variant | MODIFIER | c.640-12510G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835214 | |||||||
| chr16:8835216 | A | G | 14 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(11): Show |
15 | HG01106.hp2 HG01109.hp2 HG01346.hp1 others(12): Show |
intron_variant | MODIFIER | c.640-12508A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835216 | |||||||
| chr16:8835235 | GAAGGGAG others(12): Show |
G | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-12482_640-1246 others(23): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8835235 | ||||||
| chr16:8835238 | G | A | 123 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(120): Show |
127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.640-12486G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835238 | |||||||
| chr16:8835254 | T | G | 235 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(232): Show |
253 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(250): Show |
intron_variant | MODIFIER | c.640-12470T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835254 | |||||||
| chr16:8835258 | G | T | 119 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(116): Show |
123 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.640-12466G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835258 | |||||||
| chr16:8835271 | G | C | 3 | a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0243 |
3 | NA18942.hp2 NA18953.hp1 NA18999.hp1 |
intron_variant | MODIFIER | c.640-12453G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835271 | |||||||
| chr16:8835290 | T | C | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.640-12434T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835290 | |||||||
| chr16:8835293 | A | G | 123 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(120): Show |
127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.640-12431A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835293 | |||||||
| chr16:8835298 | GAGAGCAC others(6890): Show |
G | 2 | a0005c0006t0018g0283 a0005c0006t0018g0284 |
2 | HG01261.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.640-12377_640-5481 others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8835298 | ||||||
| chr16:8835349 | G | A | 57 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(54): Show |
61 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(58): Show |
intron_variant | MODIFIER | c.640-12375G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835349 | |||||||
| chr16:8835381 | G | T | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-12343G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835381 | |||||||
| chr16:8835403 | C | A | 358 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(355): Show |
380 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
intron_variant | MODIFIER | c.640-12321C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835403 | |||||||
| chr16:8835468 | C | G | 83 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(80): Show |
88 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(85): Show |
intron_variant | MODIFIER | c.640-12256C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835468 | |||||||
| chr16:8835518 | C | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-12206C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835518 | |||||||
| chr16:8835554 | G | A | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-12170G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835554 | |||||||
| chr16:8835596 | C | CA | 12 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(9): Show |
12 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.640-12124dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8835596 | ||||||
| chr16:8835662 | A | G | 60 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(57): Show |
67 | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(64): Show |
intron_variant | MODIFIER | c.640-12062A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835662 | |||||||
| chr16:8835666 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-12058A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835666 | |||||||
| chr16:8835698 | T | C | 1 | a0001c0001t0001g0068 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.640-12026T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835698 | |||||||
| chr16:8835758 | C | T | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.640-11966C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835758 | |||||||
| chr16:8835796 | GT | G | 3 | a0001c0001t0006g0203 a0001c0001t0006g0207 a0001c0001t0014g0041 |
3 | HG02886.hp1 NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-11924delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8835796 | ||||||
| chr16:8835830 | T | C | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-11894T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835830 | |||||||
| chr16:8835860 | T | A | 4 | a0001c0001t0002g0219 a0001c0001t0002g0224 a0001c0001t0002g0250 others(1): Show |
4 | HG02074.hp2 NA18612.hp1 NA19004.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-11864T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835860 | |||||||
| chr16:8835864 | G | A | 8 | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0097 others(5): Show |
9 | HG02055.hp1 HG02109.hp2 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-11860G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835864 | |||||||
| chr16:8835874 | T | G | 12 | a0001c0001t0001g0046 a0001c0001t0001g0090 a0001c0001t0002g0002 others(9): Show |
13 | HG00609.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
intron_variant | MODIFIER | c.640-11850T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835874 | |||||||
| chr16:8835895 | A | G | 1 | a0001c0001t0001g0090 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.640-11829A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835895 | |||||||
| chr16:8835925 | C | T | 67 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(64): Show |
71 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(68): Show |
intron_variant | MODIFIER | c.640-11799C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835925 | |||||||
| chr16:8835938 | T | C | 13 | a0001c0001t0001g0305 a0001c0001t0006g0201 a0001c0001t0006g0202 others(10): Show |
14 | HG01106.hp2 HG01109.hp2 HG01884.hp2 others(11): Show |
intron_variant | MODIFIER | c.640-11786T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835938 | |||||||
| chr16:8835946 | G | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-11778G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835946 | |||||||
| chr16:8835948 | T | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-11776T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835948 | |||||||
| chr16:8835957 | C | G | 3 | a0001c0001t0019g0005 a0001c0001t0020g0218 a0001c0001t0020g0281 |
4 | HG01106.hp2 HG01109.hp2 HG02630.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-11767C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835957 | |||||||
| chr16:8835967 | C | G | 1 | a0001c0001t0001g0154 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.640-11757C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835967 | |||||||
| chr16:8835980 | G | A | 1 | a0001c0005t0001g0071 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.640-11744G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835980 | |||||||
| chr16:8835982 | G | A | 1 | a0001c0005t0001g0071 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.640-11742G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835982 | |||||||
| chr16:8835987 | G | A | 83 | a0001c0001t0001g0052 a0001c0001t0001g0076 a0001c0001t0001g0312 others(80): Show |
90 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(87): Show |
intron_variant | MODIFIER | c.640-11737G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835987 | |||||||
| chr16:8835992 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-11732A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8835992 | |||||||
| chr16:8836001 | A | T | 8 | a0001c0001t0009g0026 a0001c0001t0009g0027 a0001c0001t0009g0028 others(5): Show |
8 | HG02145.hp1 HG02717.hp1 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.640-11723A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836001 | |||||||
| chr16:8836021 | TG | T | 358 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(355): Show |
380 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
intron_variant | MODIFIER | c.640-11702delG | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836021 | |||||||
| chr16:8836036 | A | C | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-11688A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836036 | |||||||
| chr16:8836042 | G | C | 194 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(191): Show |
204 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(201): Show |
intron_variant | MODIFIER | c.640-11682G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836042 | |||||||
| chr16:8836043 | T | C | 1 | a0001c0001t0001g0044 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.640-11681T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836043 | |||||||
| chr16:8836045 | A | T | 309 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(306): Show |
328 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(325): Show |
intron_variant | MODIFIER | c.640-11679A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836045 | |||||||
| chr16:8836053 | A | G | 114 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(111): Show |
118 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(115): Show |
intron_variant | MODIFIER | c.640-11671A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836053 | |||||||
| chr16:8836062 | A | C | 154 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(151): Show |
168 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(165): Show |
intron_variant | MODIFIER | c.640-11662A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836062 | |||||||
| chr16:8836066 | T | C | 77 | a0001c0001t0001g0131 a0001c0001t0001g0135 a0001c0001t0001g0136 others(74): Show |
81 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(78): Show |
intron_variant | MODIFIER | c.640-11658T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836066 | |||||||
| chr16:8836102 | A | C | 4 | a0001c0001t0001g0077 a0001c0001t0015g0319 a0001c0001t0015g0320 others(1): Show |
4 | HG02630.hp2 HG02970.hp1 HG03579.hp2 others(1): Show |
intron_variant | MODIFIER | c.640-11622A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836102 | |||||||
| chr16:8836112 | A | G | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-11612A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836112 | |||||||
| chr16:8836119 | C | T | 1 | a0001c0001t0003g0359 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.640-11605C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836119 | |||||||
| chr16:8836163 | T | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-11561T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836163 | |||||||
| chr16:8836167 | TA | T | 120 | a0001c0001t0001g0044 a0001c0001t0001g0125 a0001c0001t0002g0012 others(117): Show |
122 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(119): Show |
intron_variant | MODIFIER | c.640-11556delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836167 | |||||||
| chr16:8836170 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-11554C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836170 | |||||||
| chr16:8836177 | A | C | 8 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(5): Show |
8 | HG01346.hp1 HG01891.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.640-11547A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836177 | |||||||
| chr16:8836182 | T | G | 13 | a0001c0001t0001g0044 a0001c0001t0005g0110 a0001c0001t0005g0170 others(10): Show |
13 | HG01192.hp2 HG02572.hp2 HG02622.hp2 others(10): Show |
intron_variant | MODIFIER | c.640-11542T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836182 | |||||||
| chr16:8836194 | T | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-11530T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836194 | |||||||
| chr16:8836244 | G | GT | 3 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 |
3 | HG02109.hp1 HG02559.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.640-11477dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8836244 | ||||||
| chr16:8836273 | G | A | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.640-11451G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836273 | |||||||
| chr16:8836378 | T | C | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.640-11346T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836378 | |||||||
| chr16:8836396 | G | A | 358 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(355): Show |
380 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
intron_variant | MODIFIER | c.640-11328G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836396 | |||||||
| chr16:8836407 | A | G | 74 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(71): Show |
80 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(77): Show |
intron_variant | MODIFIER | c.640-11317A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836407 | |||||||
| chr16:8836430 | G | A | 1 | a0001c0001t0014g0042 | 1 | HG02257.hp2 | intron_variant | MODIFIER | c.640-11294G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836430 | |||||||
| chr16:8836434 | T | C | 103 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(100): Show |
107 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(104): Show |
intron_variant | MODIFIER | c.640-11290T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836434 | |||||||
| chr16:8836435 | G | A | 1 | a0001c0001t0035g0270 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.640-11289G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836435 | |||||||
| chr16:8836450 | C | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-11274C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836450 | |||||||
| chr16:8836451 | A | G | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-11273A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836451 | |||||||
| chr16:8836460 | A | G | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-11264A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836460 | |||||||
| chr16:8836465 | C | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-11259C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836465 | |||||||
| chr16:8836466 | A | G | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-11258A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836466 | |||||||
| chr16:8836471 | G | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-11253G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836471 | |||||||
| chr16:8836481 | C | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-11243C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836481 | |||||||
| chr16:8836508 | C | T | 1 | a0001c0007t0002g0292 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.640-11216C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836508 | |||||||
| chr16:8836516 | T | C | 1 | a0001c0001t0001g0021 | 1 | HG03130.hp2 | intron_variant | MODIFIER | c.640-11208T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836516 | |||||||
| chr16:8836522 | G | A | 1 | a0001c0001t0004g0217 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.640-11202G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836522 | |||||||
| chr16:8836531 | G | A | 358 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(355): Show |
380 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(377): Show |
intron_variant | MODIFIER | c.640-11193G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836531 | |||||||
| chr16:8836616 | C | A | 200 | a0001c0001t0001g0317 a0001c0001t0002g0002 a0001c0001t0002g0012 others(197): Show |
210 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(207): Show |
intron_variant | MODIFIER | c.640-11108C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836616 | |||||||
| chr16:8836706 | T | C | 124 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(121): Show |
128 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(125): Show |
intron_variant | MODIFIER | c.640-11018T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836706 | |||||||
| chr16:8836809 | G | T | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
157 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.640-10915G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836809 | |||||||
| chr16:8836869 | A | T | 1 | a0001c0001t0002g0219 | 1 | NA19004.hp1 | intron_variant | MODIFIER | c.640-10855A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836869 | |||||||
| chr16:8836907 | A | G | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
157 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.640-10817A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836907 | |||||||
| chr16:8836937 | G | T | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-10787G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836937 | |||||||
| chr16:8836945 | G | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-10779G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836945 | |||||||
| chr16:8836954 | A | T | 1 | a0001c0001t0001g0093 | 1 | NA19010.hp1 | intron_variant | MODIFIER | c.640-10770A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836954 | |||||||
| chr16:8836973 | T | A | 1 | a0001c0001t0001g0150 | 1 | NA19080.hp1 | intron_variant | MODIFIER | c.640-10751T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8836973 | |||||||
| chr16:8837022 | G | C | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-10702G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837022 | |||||||
| chr16:8837052 | A | G | 2 | a0001c0001t0004g0004 a0001c0001t0004g0015 |
2 | HG02698.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.640-10672A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837052 | |||||||
| chr16:8837065 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-10659G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837065 | |||||||
| chr16:8837073 | C | G | 1 | a0001c0001t0001g0057 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.640-10651C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837073 | |||||||
| chr16:8837096 | T | G | 239 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(236): Show |
257 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(254): Show |
intron_variant | MODIFIER | c.640-10628T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837096 | |||||||
| chr16:8837112 | C | T | 6 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(3): Show |
6 | HG01192.hp2 HG02886.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-10612C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837112 | |||||||
| chr16:8837113 | G | A | 1 | a0001c0001t0012g0014 | 1 | HG02717.hp2 | intron_variant | MODIFIER | c.640-10611G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837113 | |||||||
| chr16:8837127 | C | T | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
157 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(154): Show |
intron_variant | MODIFIER | c.640-10597C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837127 | |||||||
| chr16:8837143 | T | C | 344 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(341): Show |
366 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(363): Show |
intron_variant | MODIFIER | c.640-10581T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837143 | |||||||
| chr16:8837170 | C | A | 73 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(70): Show |
79 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(76): Show |
intron_variant | MODIFIER | c.640-10554C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837170 | |||||||
| chr16:8837184 | C | T | 5 | a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0117 others(2): Show |
5 | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-10540C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837184 | |||||||
| chr16:8837306 | G | A | 11 | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0097 others(8): Show |
14 | HG01167.hp1 HG01169.hp1 HG02055.hp1 others(11): Show |
intron_variant | MODIFIER | c.640-10418G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837306 | |||||||
| chr16:8837356 | A | C | 6 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show |
6 | HG00438.hp1 HG01099.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-10368A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837356 | |||||||
| chr16:8837384 | T | A | 9 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(6): Show |
10 | HG01255.hp2 HG02280.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.640-10340T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837384 | |||||||
| chr16:8837470 | C | G | 1 | a0001c0001t0002g0060 | 1 | HG03195.hp2 | intron_variant | MODIFIER | c.640-10254C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837470 | |||||||
| chr16:8837636 | G | A | 16 | a0001c0001t0004g0310 a0001c0001t0004g0311 a0001c0001t0006g0031 others(13): Show |
16 | HG01243.hp1 HG02109.hp1 HG02145.hp1 others(13): Show |
intron_variant | MODIFIER | c.640-10088G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837636 | |||||||
| chr16:8837657 | G | T | 3 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 |
3 | HG02109.hp1 HG02559.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.640-10067G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837657 | |||||||
| chr16:8837726 | C | T | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-9998C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837726 | |||||||
| chr16:8837855 | G | T | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.640-9869G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837855 | |||||||
| chr16:8837980 | G | A | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.640-9744G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837980 | |||||||
| chr16:8837990 | A | G | 1 | a0001c0001t0001g0077 | 1 | NA18978.hp1 | intron_variant | MODIFIER | c.640-9734A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8837990 | |||||||
| chr16:8838027 | T | C | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.640-9697T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838027 | |||||||
| chr16:8838032 | A | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-9692A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838032 | |||||||
| chr16:8838074 | A | G | 1 | a0001c0001t0001g0316 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.640-9650A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838074 | |||||||
| chr16:8838074 | AGCAAAGG others(7050): Show |
A | 1 | a0001c0001t0033g0039 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.640-9577_640-2521d others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8838074 | ||||||
| chr16:8838106 | T | A | 1 | a0001c0001t0002g0002 | 2 | HG02486.hp2 HG03209.hp2 |
intron_variant | MODIFIER | c.640-9618T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838106 | |||||||
| chr16:8838147 | T | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-9577T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838147 | |||||||
| chr16:8838197 | C | G | 134 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(131): Show |
145 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(142): Show |
intron_variant | MODIFIER | c.640-9527C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838197 | |||||||
| chr16:8838247 | C | T | 119 | a0001c0001t0001g0168 a0001c0001t0002g0002 a0001c0001t0002g0012 others(116): Show |
123 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(120): Show |
intron_variant | MODIFIER | c.640-9477C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838247 | |||||||
| chr16:8838271 | A | T | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-9453A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838271 | |||||||
| chr16:8838347 | T | C | 230 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(227): Show |
248 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(245): Show |
intron_variant | MODIFIER | c.640-9377T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838347 | |||||||
| chr16:8838349 | C | T | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-9375C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838349 | |||||||
| chr16:8838360 | T | C | 1 | a0001c0001t0002g0230 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.640-9364T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838360 | |||||||
| chr16:8838485 | C | G | 222 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(219): Show |
240 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(237): Show |
intron_variant | MODIFIER | c.640-9239C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838485 | |||||||
| chr16:8838493 | G | A | 3 | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 |
3 | HG02280.hp2 HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.640-9231G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838493 | |||||||
| chr16:8838525 | TA | T | 4 | a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 others(1): Show |
4 | HG00639.hp1 HG02735.hp2 HG03491.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-9198delA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838525 | |||||||
| chr16:8838573 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-9151G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838573 | |||||||
| chr16:8838598 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-9126G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838598 | |||||||
| chr16:8838633 | A | T | 143 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(140): Show |
155 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.640-9091A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838633 | |||||||
| chr16:8838644 | T | C | 4 | a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0001t0002g0265 others(1): Show |
4 | HG00558.hp1 HG03579.hp2 NA19000.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-9080T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838644 | |||||||
| chr16:8838653 | A | G | 3 | a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0001t0002g0265 |
3 | HG00558.hp1 NA19000.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.640-9071A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838653 | |||||||
| chr16:8838753 | C | T | 4 | a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 others(1): Show |
4 | HG02135.hp2 NA18984.hp2 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.640-8971C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838753 | |||||||
| chr16:8838793 | C | G | 1 | a0001c0001t0001g0187 | 1 | HG02683.hp1 | intron_variant | MODIFIER | c.640-8931C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838793 | |||||||
| chr16:8838861 | T | C | 1 | a0001c0001t0002g0231 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.640-8863T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838861 | |||||||
| chr16:8838911 | T | C | 2 | a0001c0001t0005g0178 a0001c0001t0022g0322 |
2 | HG02622.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.640-8813T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838911 | |||||||
| chr16:8838966 | A | G | 1 | a0001c0001t0003g0348 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.640-8758A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8838966 | |||||||
| chr16:8839150 | C | T | 1 | a0001c0001t0004g0299 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.640-8574C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839150 | |||||||
| chr16:8839184 | A | G | 1 | a0001c0001t0003g0321 | 1 | HG03688.hp2 | intron_variant | MODIFIER | c.640-8540A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839184 | |||||||
| chr16:8839237 | G | A | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-8487G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839237 | |||||||
| chr16:8839443 | C | T | 4 | a0001c0001t0001g0021 a0001c0001t0001g0364 a0001c0001t0001g0365 others(1): Show |
4 | HG02723.hp2 HG03139.hp1 HG06807.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-8281C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839443 | |||||||
| chr16:8839521 | G | A | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.640-8203G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839521 | |||||||
| chr16:8839660 | A | G | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.640-8064A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839660 | |||||||
| chr16:8839680 | C | G | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.640-8044C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839680 | |||||||
| chr16:8839801 | T | C | 1 | a0001c0001t0001g0137 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.640-7923T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839801 | |||||||
| chr16:8839826 | G | A | 8 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(5): Show |
9 | HG01255.hp2 HG02280.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-7898G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839826 | |||||||
| chr16:8839875 | A | T | 357 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(354): Show |
379 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(376): Show |
intron_variant | MODIFIER | c.640-7849A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839875 | |||||||
| chr16:8839877 | A | G | 357 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(354): Show |
379 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(376): Show |
intron_variant | MODIFIER | c.640-7847A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839877 | |||||||
| chr16:8839880 | A | T | 357 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(354): Show |
379 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(376): Show |
intron_variant | MODIFIER | c.640-7844A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839880 | |||||||
| chr16:8839881 | G | T | 357 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(354): Show |
379 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(376): Show |
intron_variant | MODIFIER | c.640-7843G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839881 | |||||||
| chr16:8839882 | A | AATAT | 357 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(354): Show |
379 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(376): Show |
intron_variant | MODIFIER | c.640-7841_640-7840i others(6): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8839882 | ||||||
| chr16:8839920 | G | A | 2 | a0001c0001t0002g0215 a0001c0001t0002g0253 |
2 | NA18956.hp1 NA18987.hp2 |
intron_variant | MODIFIER | c.640-7804G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839920 | |||||||
| chr16:8839957 | C | G | 1 | a0001c0001t0001g0092 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.640-7767C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8839957 | |||||||
| chr16:8840076 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-7648A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840076 | |||||||
| chr16:8840114 | A | G | 1 | a0001c0001t0016g0204 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.640-7610A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840114 | |||||||
| chr16:8840144 | C | T | 3 | a0001c0001t0001g0066 a0001c0001t0001g0116 a0001c0001t0001g0134 |
3 | HG02602.hp1 NA18999.hp2 NA19062.hp1 |
intron_variant | MODIFIER | c.640-7580C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840144 | |||||||
| chr16:8840172 | A | T | 34 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0048 others(31): Show |
36 | HG00544.hp2 HG00609.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.640-7552A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840172 | |||||||
| chr16:8840269 | G | T | 1 | a0001c0001t0001g0123 | 1 | NA18978.hp2 | intron_variant | MODIFIER | c.640-7455G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840269 | |||||||
| chr16:8840324 | G | T | 3 | a0001c0001t0003g0146 a0001c0001t0003g0324 a0001c0001t0003g0325 |
3 | HG00673.hp2 HG02080.hp1 NA18949.hp2 |
intron_variant | MODIFIER | c.640-7400G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840324 | |||||||
| chr16:8840354 | C | T | 148 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
161 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(158): Show |
intron_variant | MODIFIER | c.640-7370C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840354 | |||||||
| chr16:8840360 | A | G | 1 | a0001c0001t0003g0328 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.640-7364A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840360 | |||||||
| chr16:8840395 | C | G | 12 | a0001c0001t0005g0110 a0001c0001t0005g0170 a0001c0001t0005g0171 others(9): Show |
12 | HG01192.hp2 HG02622.hp2 HG02647.hp2 others(9): Show |
intron_variant | MODIFIER | c.640-7329C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840395 | |||||||
| chr16:8840397 | G | A | 1 | a0001c0001t0001g0317 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.640-7327G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840397 | |||||||
| chr16:8840401 | G | A | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-7323G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840401 | |||||||
| chr16:8840448 | G | C | 6 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(3): Show |
6 | HG00438.hp1 HG01099.hp1 HG01123.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-7276G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840448 | |||||||
| chr16:8840454 | T | C | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-7270T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840454 | |||||||
| chr16:8840488 | T | C | 135 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(132): Show |
147 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(144): Show |
intron_variant | MODIFIER | c.640-7236T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840488 | |||||||
| chr16:8840492 | G | C | 1 | a0001c0010t0004g0306 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.640-7232G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840492 | |||||||
| chr16:8840516 | G | A | 8 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(5): Show |
9 | HG01255.hp2 HG02280.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-7208G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840516 | |||||||
| chr16:8840559 | A | G | 361 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(358): Show |
384 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
intron_variant | MODIFIER | c.640-7165A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840559 | |||||||
| chr16:8840705 | C | T | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-7019C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840705 | |||||||
| chr16:8840713 | TGGAACG | T | 16 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(13): Show |
17 | HG01167.hp1 HG01169.hp1 HG02109.hp1 others(14): Show |
intron_variant | MODIFIER | c.640-7009_640-7004d others(8): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8840713 | ||||||
| chr16:8840789 | G | A | 1 | a0001c0001t0001g0167 | 1 | HG04115.hp1 | intron_variant | MODIFIER | c.640-6935G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840789 | |||||||
| chr16:8840803 | G | T | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.640-6921G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840803 | |||||||
| chr16:8840880 | G | T | 2 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | HG01891.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.640-6844G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840880 | |||||||
| chr16:8840905 | G | C | 4 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-6819G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840905 | |||||||
| chr16:8840913 | T | C | 1 | a0001c0001t0004g0302 | 1 | HG01256.hp1 | intron_variant | MODIFIER | c.640-6811T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840913 | |||||||
| chr16:8840944 | C | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-6780C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8840944 | |||||||
| chr16:8841064 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6660A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841064 | |||||||
| chr16:8841122 | T | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6602T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841122 | |||||||
| chr16:8841127 | A | G | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6597A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841127 | |||||||
| chr16:8841128 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6596C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841128 | |||||||
| chr16:8841129 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6595C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841129 | |||||||
| chr16:8841141 | A | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6583A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841141 | |||||||
| chr16:8841149 | G | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-6575G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841149 | |||||||
| chr16:8841168 | T | C | 153 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(150): Show |
166 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(163): Show |
intron_variant | MODIFIER | c.640-6556T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841168 | |||||||
| chr16:8841175 | C | T | 361 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(358): Show |
384 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
intron_variant | MODIFIER | c.640-6549C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841175 | |||||||
| chr16:8841176 | T | G | 361 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(358): Show |
384 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
intron_variant | MODIFIER | c.640-6548T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841176 | |||||||
| chr16:8841194 | T | G | 4 | a0001c0001t0008g0023 a0001c0001t0008g0378 a0001c0001t0008g0379 others(1): Show |
5 | HG00741.hp2 HG01257.hp2 HG01346.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-6530T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841194 | |||||||
| chr16:8841197 | A | G | 2 | a0001c0001t0002g0212 a0001c0001t0002g0273 |
2 | NA19068.hp2 NA19091.hp2 |
intron_variant | MODIFIER | c.640-6527A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841197 | |||||||
| chr16:8841245 | A | G | 1 | a0001c0001t0007g0118 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.640-6479A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841245 | |||||||
| chr16:8841265 | T | A | 1 | a0001c0001t0003g0368 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.640-6459T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841265 | |||||||
| chr16:8841265 | T | C | 148 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(145): Show |
161 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(158): Show |
intron_variant | MODIFIER | c.640-6459T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841265 | |||||||
| chr16:8841299 | T | C | 2 | a0001c0001t0019g0005 a0001c0001t0022g0322 |
3 | HG01106.hp2 HG01109.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.640-6425T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841299 | |||||||
| chr16:8841408 | T | C | 72 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(69): Show |
77 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(74): Show |
intron_variant | MODIFIER | c.640-6316T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841408 | |||||||
| chr16:8841422 | T | A | 1 | a0001c0001t0003g0343 | 1 | HG02080.hp2 | intron_variant | MODIFIER | c.640-6302T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841422 | |||||||
| chr16:8841465 | T | C | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-6259T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841465 | |||||||
| chr16:8841481 | A | AG | 77 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(74): Show |
85 | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(82): Show |
intron_variant | MODIFIER | c.640-6240dupG | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8841481 | ||||||
| chr16:8841491 | A | G | 361 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(358): Show |
384 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
intron_variant | MODIFIER | c.640-6233A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841491 | |||||||
| chr16:8841519 | T | C | 34 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0048 others(31): Show |
36 | HG00544.hp2 HG00609.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.640-6205T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841519 | |||||||
| chr16:8841542 | G | A | 5 | a0001c0001t0001g0010 a0001c0001t0001g0181 a0001c0001t0001g0182 others(2): Show |
6 | HG01069.hp2 HG01071.hp2 HG01358.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-6182G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841542 | |||||||
| chr16:8841564 | A | AT | 5 | a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0117 others(2): Show |
5 | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-6157dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8841564 | ||||||
| chr16:8841590 | G | C | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-6134G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841590 | |||||||
| chr16:8841603 | G | A | 34 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0048 others(31): Show |
36 | HG00544.hp2 HG00609.hp2 HG00673.hp1 others(33): Show |
intron_variant | MODIFIER | c.640-6121G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841603 | |||||||
| chr16:8841623 | A | G | 2 | a0001c0001t0003g0356 a0001c0001t0003g0357 |
2 | NA18957.hp2 NA18983.hp2 |
intron_variant | MODIFIER | c.640-6101A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841623 | |||||||
| chr16:8841652 | G | A | 1 | a0001c0001t0001g0185 | 1 | HG02300.hp1 | intron_variant | MODIFIER | c.640-6072G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841652 | |||||||
| chr16:8841722 | A | T | 360 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(357): Show |
383 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(380): Show |
intron_variant | MODIFIER | c.640-6002A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841722 | |||||||
| chr16:8841724 | G | T | 1 | a0001c0001t0002g0272 | 1 | NA18965.hp1 | intron_variant | MODIFIER | c.640-6000G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841724 | |||||||
| chr16:8841729 | A | G | 361 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(358): Show |
384 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
intron_variant | MODIFIER | c.640-5995A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841729 | |||||||
| chr16:8841741 | G | A | 152 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(149): Show |
165 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(162): Show |
intron_variant | MODIFIER | c.640-5983G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841741 | |||||||
| chr16:8841758 | A | G | 151 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(148): Show |
164 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.640-5966A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841758 | |||||||
| chr16:8841760 | C | T | 151 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(148): Show |
164 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(161): Show |
intron_variant | MODIFIER | c.640-5964C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841760 | |||||||
| chr16:8841799 | G | A | 3 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0179 |
3 | HG02895.hp2 HG02897.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.640-5925G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841799 | |||||||
| chr16:8841818 | C | T | 1 | a0001c0001t0003g0349 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.640-5906C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841818 | |||||||
| chr16:8841819 | G | A | 1 | a0001c0001t0002g0002 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.640-5905G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841819 | |||||||
| chr16:8841832 | T | C | 145 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(142): Show |
158 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(155): Show |
intron_variant | MODIFIER | c.640-5892T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841832 | |||||||
| chr16:8841907 | G | A | 1 | a0001c0001t0040g0073 | 1 | HG01256.hp2 | intron_variant | MODIFIER | c.640-5817G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841907 | |||||||
| chr16:8841917 | A | G | 121 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(118): Show |
125 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.640-5807A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841917 | |||||||
| chr16:8841919 | G | A | 121 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(118): Show |
125 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(122): Show |
intron_variant | MODIFIER | c.640-5805G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841919 | |||||||
| chr16:8841934 | T | C | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-5790T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841934 | |||||||
| chr16:8841946 | A | C | 271 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(268): Show |
288 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(285): Show |
intron_variant | MODIFIER | c.640-5778A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841946 | |||||||
| chr16:8841965 | T | C | 360 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(357): Show |
383 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(380): Show |
intron_variant | MODIFIER | c.640-5759T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841965 | |||||||
| chr16:8841977 | C | G | 7 | a0001c0001t0003g0210 a0001c0001t0010g0034 a0001c0001t0010g0035 others(4): Show |
7 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(4): Show |
intron_variant | MODIFIER | c.640-5747C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8841977 | |||||||
| chr16:8842010 | C | T | 221 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(218): Show |
240 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(237): Show |
intron_variant | MODIFIER | c.640-5714C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842010 | |||||||
| chr16:8842011 | T | C | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-5713T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842011 | |||||||
| chr16:8842012 | G | A | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-5712G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842012 | |||||||
| chr16:8842046 | G | C | 4 | a0001c0001t0001g0364 a0001c0001t0005g0170 a0001c0001t0005g0171 others(1): Show |
4 | HG02647.hp2 HG02896.hp1 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-5678G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842046 | |||||||
| chr16:8842058 | T | A | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-5666T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842058 | |||||||
| chr16:8842078 | T | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-5646T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842078 | |||||||
| chr16:8842079 | G | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-5645G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842079 | |||||||
| chr16:8842080 | T | C | 361 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(358): Show |
384 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(381): Show |
intron_variant | MODIFIER | c.640-5644T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842080 | |||||||
| chr16:8842091 | G | C | 6 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(3): Show |
6 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-5633G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842091 | |||||||
| chr16:8842111 | G | A | 234 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(231): Show |
252 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(249): Show |
intron_variant | MODIFIER | c.640-5613G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842111 | |||||||
| chr16:8842112 | C | A | 1 | a0008c0008t0003g0122 | 1 | NA19082.hp1 | intron_variant | MODIFIER | c.640-5612C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842112 | |||||||
| chr16:8842113 | A | G | 234 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(231): Show |
253 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(250): Show |
intron_variant | MODIFIER | c.640-5611A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842113 | |||||||
| chr16:8842135 | G | A | 146 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(143): Show |
159 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(156): Show |
intron_variant | MODIFIER | c.640-5589G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842135 | |||||||
| chr16:8842151 | G | T | 226 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(223): Show |
245 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(242): Show |
intron_variant | MODIFIER | c.640-5573G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842151 | |||||||
| chr16:8842169 | G | A | 1 | a0001c0001t0001g0088 | 1 | NA18995.hp1 | intron_variant | MODIFIER | c.640-5555G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842169 | |||||||
| chr16:8842184 | A | C | 7 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(4): Show |
8 | HG01106.hp2 HG01109.hp2 HG01891.hp2 others(5): Show |
intron_variant | MODIFIER | c.640-5540A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842184 | |||||||
| chr16:8842187 | T | C | 1 | a0001c0001t0032g0206 | 1 | HG02818.hp1 | intron_variant | MODIFIER | c.640-5537T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842187 | |||||||
| chr16:8842190 | A | G | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-5534A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842190 | |||||||
| chr16:8842195 | C | G | 6 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(3): Show |
6 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-5529C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842195 | |||||||
| chr16:8842244 | A | G | 120 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(117): Show |
124 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.640-5480A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842244 | |||||||
| chr16:8842412 | C | T | 1 | a0001c0001t0005g0178 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.640-5312C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842412 | |||||||
| chr16:8842493 | G | C | 1 | a0001c0001t0001g0057 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.640-5231G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842493 | |||||||
| chr16:8842614 | T | C | 14 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(11): Show |
14 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.640-5110T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842614 | |||||||
| chr16:8842632 | T | C | 363 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(360): Show |
386 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(383): Show |
intron_variant | MODIFIER | c.640-5092T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842632 | |||||||
| chr16:8842676 | T | C | 1 | a0001c0001t0001g0089 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.640-5048T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842676 | |||||||
| chr16:8842682 | G | T | 2 | a0001c0001t0015g0319 a0001c0001t0015g0320 |
2 | HG02630.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.640-5042G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842682 | |||||||
| chr16:8842683 | C | T | 2 | a0001c0001t0015g0319 a0001c0001t0015g0320 |
2 | HG02630.hp2 HG02970.hp1 |
intron_variant | MODIFIER | c.640-5041C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842683 | |||||||
| chr16:8842743 | A | G | 379 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(376): Show |
405 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(402): Show |
intron_variant | MODIFIER | c.640-4981A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842743 | |||||||
| chr16:8842774 | T | C | 106 | a0001c0001t0001g0132 a0001c0001t0002g0002 a0001c0001t0002g0012 others(103): Show |
110 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(107): Show |
intron_variant | MODIFIER | c.640-4950T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842774 | |||||||
| chr16:8842817 | C | A | 1 | a0001c0005t0001g0071 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.640-4907C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842817 | |||||||
| chr16:8842818 | G | A | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.640-4906G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842818 | |||||||
| chr16:8842855 | G | C | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-4869G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842855 | |||||||
| chr16:8842879 | G | GT | 5 | a0001c0001t0009g0027 a0001c0001t0009g0028 a0001c0001t0009g0029 others(2): Show |
5 | HG02145.hp1 HG02809.hp1 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-4844dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8842879 | ||||||
| chr16:8842925 | A | G | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-4799A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842925 | |||||||
| chr16:8842943 | G | A | 1 | a0001c0001t0002g0289 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.640-4781G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842943 | |||||||
| chr16:8842943 | G | C | 71 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(68): Show |
75 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(72): Show |
intron_variant | MODIFIER | c.640-4781G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8842943 | |||||||
| chr16:8843026 | G | T | 6 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(3): Show |
6 | HG00323.hp1 HG01891.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-4698G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843026 | |||||||
| chr16:8843028 | C | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-4696C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843028 | |||||||
| chr16:8843043 | T | G | 120 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(117): Show |
124 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.640-4681T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843043 | |||||||
| chr16:8843053 | A | G | 123 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(120): Show |
127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.640-4671A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843053 | |||||||
| chr16:8843085 | G | A | 74 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(71): Show |
80 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(77): Show |
intron_variant | MODIFIER | c.640-4639G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843085 | |||||||
| chr16:8843117 | A | G | 2 | a0001c0001t0001g0089 a0001c0001t0001g0317 |
2 | HG02273.hp2 NA20300.hp1 |
intron_variant | MODIFIER | c.640-4607A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843117 | |||||||
| chr16:8843118 | A | T | 363 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(360): Show |
386 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(383): Show |
intron_variant | MODIFIER | c.640-4606A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843118 | |||||||
| chr16:8843132 | A | G | 1 | a0001c0001t0001g0161 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.640-4592A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843132 | |||||||
| chr16:8843133 | C | G | 1 | a0001c0001t0001g0045 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.640-4591C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843133 | |||||||
| chr16:8843155 | G | A | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-4569G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843155 | |||||||
| chr16:8843172 | G | A | 1 | a0001c0001t0002g0278 | 1 | HG02738.hp2 | intron_variant | MODIFIER | c.640-4552G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843172 | |||||||
| chr16:8843187 | A | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-4537A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843187 | |||||||
| chr16:8843230 | A | G | 147 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(144): Show |
151 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.640-4494A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843230 | |||||||
| chr16:8843311 | G | A | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-4413G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843311 | |||||||
| chr16:8843360 | C | T | 6 | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show |
6 | HG00597.hp1 NA18747.hp2 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-4364C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843360 | |||||||
| chr16:8843443 | C | T | 1 | a0001c0001t0020g0218 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.640-4281C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843443 | |||||||
| chr16:8843513 | GC | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(139): Show |
155 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.640-4208delC | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8843513 | ||||||
| chr16:8843521 | A | G | 142 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(139): Show |
155 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(152): Show |
intron_variant | MODIFIER | c.640-4203A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843521 | |||||||
| chr16:8843540 | G | T | 14 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(11): Show |
14 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.640-4184G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843540 | |||||||
| chr16:8843583 | C | T | 217 | a0001c0001t0001g0058 a0001c0001t0001g0074 a0001c0001t0002g0002 others(214): Show |
226 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(223): Show |
intron_variant | MODIFIER | c.640-4141C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843583 | |||||||
| chr16:8843589 | G | A | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-4135G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843589 | |||||||
| chr16:8843609 | C | A | 1 | a0001c0001t0003g0348 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.640-4115C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843609 | |||||||
| chr16:8843664 | A | T | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-4060A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843664 | |||||||
| chr16:8843678 | A | G | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-4046A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843678 | |||||||
| chr16:8843679 | T | G | 3 | a0001c0001t0010g0036 a0001c0001t0010g0037 a0001c0001t0010g0038 |
3 | HG02280.hp2 HG03209.hp1 HG03540.hp1 |
intron_variant | MODIFIER | c.640-4045T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843679 | |||||||
| chr16:8843696 | G | A | 120 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(117): Show |
124 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.640-4028G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843696 | |||||||
| chr16:8843746 | G | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-3978G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843746 | |||||||
| chr16:8843832 | G | C | 1 | a0001c0001t0006g0207 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.640-3892G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843832 | |||||||
| chr16:8843858 | G | A | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-3866G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843858 | |||||||
| chr16:8843864 | G | C | 8 | a0001c0001t0001g0052 a0001c0001t0001g0312 a0001c0001t0001g0314 others(5): Show |
9 | HG01255.hp2 HG02280.hp1 HG02717.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-3860G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843864 | |||||||
| chr16:8843865 | C | G | 3 | a0001c0001t0002g0235 a0001c0001t0002g0241 a0001c0001t0002g0265 |
3 | HG00558.hp1 NA19000.hp1 NA19087.hp2 |
intron_variant | MODIFIER | c.640-3859C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843865 | |||||||
| chr16:8843870 | AGG | A | 73 | a0001c0001t0001g0058 a0001c0001t0003g0017 a0001c0001t0003g0018 others(70): Show |
78 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(75): Show |
intron_variant | MODIFIER | c.640-3851_640-3850d others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8843870 | ||||||
| chr16:8843883 | G | A | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-3841G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843883 | |||||||
| chr16:8843920 | C | G | 2 | a0001c0001t0004g0295 a0001c0001t0004g0307 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.640-3804C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843920 | |||||||
| chr16:8843945 | G | A | 363 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(360): Show |
386 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(383): Show |
intron_variant | MODIFIER | c.640-3779G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843945 | |||||||
| chr16:8843952 | G | A | 216 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(213): Show |
235 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(232): Show |
intron_variant | MODIFIER | c.640-3772G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843952 | |||||||
| chr16:8843954 | G | A | 65 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(62): Show |
72 | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(69): Show |
intron_variant | MODIFIER | c.640-3770G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843954 | |||||||
| chr16:8843965 | G | A | 3 | a0001c0001t0032g0206 a0005c0006t0018g0283 a0005c0006t0018g0284 |
3 | HG01261.hp1 HG02818.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.640-3759G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843965 | |||||||
| chr16:8843979 | G | A | 13 | a0001c0001t0005g0110 a0001c0001t0005g0170 a0001c0001t0005g0171 others(10): Show |
13 | HG01192.hp2 HG02622.hp2 HG02647.hp2 others(10): Show |
intron_variant | MODIFIER | c.640-3745G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843979 | |||||||
| chr16:8843979 | G | T | 1 | a0001c0001t0001g0057 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.640-3745G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8843979 | |||||||
| chr16:8844033 | G | C | 6 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0175 others(3): Show |
6 | HG01192.hp2 HG02886.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-3691G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844033 | |||||||
| chr16:8844041 | G | C | 1 | a0001c0001t0005g0180 | 1 | HG03195.hp1 | intron_variant | MODIFIER | c.640-3683G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844041 | |||||||
| chr16:8844052 | T | C | 123 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(120): Show |
127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.640-3672T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844052 | |||||||
| chr16:8844056 | T | C | 9 | a0001c0001t0005g0110 a0001c0001t0005g0173 a0001c0001t0005g0174 others(6): Show |
9 | HG01192.hp2 HG02622.hp2 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.640-3668T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844056 | |||||||
| chr16:8844067 | C | T | 1 | a0001c0001t0002g0231 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.640-3657C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844067 | |||||||
| chr16:8844073 | G | C | 1 | a0001c0001t0001g0364 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.640-3651G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844073 | |||||||
| chr16:8844114 | G | A | 213 | a0001c0001t0001g0058 a0001c0001t0002g0002 a0001c0001t0002g0012 others(210): Show |
222 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(219): Show |
intron_variant | MODIFIER | c.640-3610G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844114 | |||||||
| chr16:8844174 | G | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-3550G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844174 | |||||||
| chr16:8844174 | G | T | 3 | a0001c0001t0012g0014 a0001c0001t0012g0297 a0001c0001t0030g0298 |
4 | HG02717.hp2 HG02723.hp1 HG02922.hp2 others(1): Show |
intron_variant | MODIFIER | c.640-3550G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844174 | |||||||
| chr16:8844228 | A | C | 1 | a0001c0001t0001g0080 | 1 | HG00597.hp2 | intron_variant | MODIFIER | c.640-3496A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844228 | |||||||
| chr16:8844258 | A | G | 4 | a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 others(1): Show |
4 | HG02135.hp2 NA18984.hp2 NA18986.hp2 others(1): Show |
intron_variant | MODIFIER | c.640-3466A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844258 | |||||||
| chr16:8844311 | G | A | 1 | a0001c0001t0001g0066 | 1 | HG02602.hp1 | intron_variant | MODIFIER | c.640-3413G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844311 | |||||||
| chr16:8844382 | G | A | 14 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(11): Show |
14 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.640-3342G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844382 | |||||||
| chr16:8844415 | G | A | 1 | a0001c0001t0001g0046 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.640-3309G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844415 | |||||||
| chr16:8844450 | G | A | 123 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(120): Show |
127 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(124): Show |
intron_variant | MODIFIER | c.640-3274G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844450 | |||||||
| chr16:8844551 | C | A | 363 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(360): Show |
386 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(383): Show |
intron_variant | MODIFIER | c.640-3173C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844551 | |||||||
| chr16:8844704 | C | T | 2 | a0001c0001t0002g0275 a0001c0001t0019g0005 |
3 | HG01070.hp2 HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-3020C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844704 | |||||||
| chr16:8844710 | C | T | 1 | a0001c0001t0015g0319 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.640-3014C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844710 | |||||||
| chr16:8844714 | G | A | 1 | a0001c0001t0004g0296 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.640-3010G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844714 | |||||||
| chr16:8844799 | T | G | 1 | a0001c0001t0008g0378 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.640-2925T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844799 | |||||||
| chr16:8844810 | G | A | 14 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(11): Show |
14 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.640-2914G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844810 | |||||||
| chr16:8844858 | G | A | 1 | a0001c0001t0002g0229 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.640-2866G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844858 | |||||||
| chr16:8844937 | G | A | 73 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(70): Show |
77 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(74): Show |
intron_variant | MODIFIER | c.640-2787G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844937 | |||||||
| chr16:8844951 | C | T | 1 | a0001c0001t0005g0177 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.640-2773C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844951 | |||||||
| chr16:8844976 | A | G | 1 | a0001c0001t0002g0012 | 2 | HG01070.hp1 HG01071.hp1 |
intron_variant | MODIFIER | c.640-2748A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8844976 | |||||||
| chr16:8845011 | G | C | 15 | a0001c0001t0005g0170 a0001c0001t0005g0171 a0001c0001t0005g0172 others(12): Show |
16 | HG01167.hp1 HG01169.hp1 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.640-2713G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845011 | |||||||
| chr16:8845080 | T | C | 233 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(230): Show |
250 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(247): Show |
intron_variant | MODIFIER | c.640-2644T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845080 | |||||||
| chr16:8845081 | G | A | 56 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(53): Show |
60 | HG00544.hp2 HG00597.hp1 HG00609.hp2 others(57): Show |
intron_variant | MODIFIER | c.640-2643G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845081 | |||||||
| chr16:8845089 | A | T | 12 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(9): Show |
12 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.640-2635A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845089 | |||||||
| chr16:8845109 | G | A | 2 | a0001c0001t0004g0295 a0001c0001t0004g0307 |
2 | HG02922.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.640-2615G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845109 | |||||||
| chr16:8845131 | G | A | 138 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(135): Show |
142 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(139): Show |
intron_variant | MODIFIER | c.640-2593G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845131 | |||||||
| chr16:8845144 | G | T | 5 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(2): Show |
5 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(2): Show |
intron_variant | MODIFIER | c.640-2580G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845144 | |||||||
| chr16:8845163 | T | C | 12 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(9): Show |
12 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.640-2561T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845163 | |||||||
| chr16:8845204 | C | T | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.640-2520C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845204 | |||||||
| chr16:8845212 | G | A | 272 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(269): Show |
289 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(286): Show |
intron_variant | MODIFIER | c.640-2512G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845212 | |||||||
| chr16:8845224 | A | G | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-2500A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845224 | |||||||
| chr16:8845233 | C | T | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.640-2491C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845233 | |||||||
| chr16:8845247 | A | G | 1 | a0004c0003t0003g0327 | 1 | NA18997.hp1 | intron_variant | MODIFIER | c.640-2477A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845247 | |||||||
| chr16:8845253 | T | A | 8 | a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0036 others(5): Show |
8 | HG01891.hp2 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.640-2471T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845253 | |||||||
| chr16:8845254 | C | G | 3 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 |
3 | HG02257.hp2 HG02486.hp1 HG02886.hp1 |
intron_variant | MODIFIER | c.640-2470C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845254 | |||||||
| chr16:8845304 | C | T | 3 | a0001c0001t0002g0188 a0001c0001t0002g0195 a0001c0001t0002g0198 |
3 | HG00280.hp1 HG01167.hp2 HG04204.hp2 |
intron_variant | MODIFIER | c.640-2420C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845304 | |||||||
| chr16:8845362 | T | G | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-2362T>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845362 | |||||||
| chr16:8845394 | T | C | 1 | a0001c0001t0002g0260 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.640-2330T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845394 | |||||||
| chr16:8845445 | C | G | 70 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(67): Show |
74 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.640-2279C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845445 | |||||||
| chr16:8845560 | A | C | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-2164A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845560 | |||||||
| chr16:8845582 | T | C | 125 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(122): Show |
129 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(126): Show |
intron_variant | MODIFIER | c.640-2142T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845582 | |||||||
| chr16:8845588 | G | GT | 6 | a0001c0001t0001g0072 a0001c0001t0010g0034 a0001c0001t0010g0035 others(3): Show |
6 | HG01891.hp2 HG02258.hp1 HG02280.hp2 others(3): Show |
intron_variant | MODIFIER | c.640-2127dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8845588 | ||||||
| chr16:8845589 | T | C | 4 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-2135T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845589 | |||||||
| chr16:8845664 | C | T | 6 | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 others(3): Show |
6 | HG00597.hp1 NA18747.hp2 NA18948.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-2060C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845664 | |||||||
| chr16:8845665 | G | A | 1 | a0001c0001t0006g0203 | 1 | NA19043.hp2 | intron_variant | MODIFIER | c.640-2059G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845665 | |||||||
| chr16:8845667 | C | T | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-2057C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845667 | |||||||
| chr16:8845795 | C | CT | 6 | a0001c0001t0003g0210 a0001c0001t0003g0333 a0001c0001t0003g0338 others(3): Show |
7 | HG01167.hp1 HG01169.hp1 HG01515.hp1 others(4): Show |
intron_variant | MODIFIER | c.640-1912dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8845795 | ||||||
| chr16:8845795 | C | CTT | 65 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(62): Show |
69 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(66): Show |
intron_variant | MODIFIER | c.640-1913_640-1912d others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8845795 | ||||||
| chr16:8845795 | CT | C | 133 | a0001c0001t0001g0003 a0001c0001t0001g0079 a0001c0001t0001g0083 others(130): Show |
140 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(137): Show |
intron_variant | MODIFIER | c.640-1912delT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8845795 | ||||||
| chr16:8845795 | CTT | C | 7 | a0001c0001t0002g0095 a0001c0001t0002g0198 a0001c0001t0002g0240 others(4): Show |
7 | HG01069.hp1 HG01167.hp2 HG01346.hp1 others(4): Show |
intron_variant | MODIFIER | c.640-1913_640-1912d others(4): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8845795 | ||||||
| chr16:8845869 | C | T | 1 | a0001c0001t0001g0183 | 1 | HG01516.hp1 | intron_variant | MODIFIER | c.640-1855C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845869 | |||||||
| chr16:8845967 | C | G | 1 | a0001c0001t0020g0218 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.640-1757C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8845967 | |||||||
| chr16:8846031 | C | A | 1 | a0001c0001t0022g0322 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.640-1693C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846031 | |||||||
| chr16:8846076 | G | C | 2 | a0001c0001t0010g0034 a0001c0001t0010g0035 |
2 | HG01891.hp2 HG02258.hp1 |
intron_variant | MODIFIER | c.640-1648G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846076 | |||||||
| chr16:8846156 | C | T | 2 | a0001c0001t0016g0204 a0001c0001t0016g0205 |
2 | HG02055.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.640-1568C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846156 | |||||||
| chr16:8846165 | G | A | 1 | a0001c0001t0001g0106 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.640-1559G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846165 | |||||||
| chr16:8846247 | C | T | 4 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0140 others(1): Show |
6 | NA18939.hp2 NA18954.hp2 NA18963.hp1 others(3): Show |
intron_variant | MODIFIER | c.640-1477C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846247 | |||||||
| chr16:8846271 | T | C | 5 | a0001c0001t0007g0114 a0001c0001t0007g0115 a0001c0001t0007g0117 others(2): Show |
5 | HG01884.hp1 HG02451.hp2 HG02615.hp1 others(2): Show |
intron_variant | MODIFIER | c.640-1453T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846271 | |||||||
| chr16:8846347 | C | T | 3 | a0001c0001t0005g0173 a0001c0001t0005g0174 a0001c0001t0005g0179 |
3 | HG02895.hp2 HG02897.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.640-1377C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846347 | |||||||
| chr16:8846359 | C | T | 105 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(102): Show |
109 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(106): Show |
intron_variant | MODIFIER | c.640-1365C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846359 | |||||||
| chr16:8846486 | C | T | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-1238C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846486 | |||||||
| chr16:8846489 | G | C | 12 | a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0033 others(9): Show |
12 | HG02109.hp1 HG02145.hp1 HG02559.hp1 others(9): Show |
intron_variant | MODIFIER | c.640-1235G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846489 | |||||||
| chr16:8846497 | G | T | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.640-1227G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846497 | |||||||
| chr16:8846524 | G | A | 144 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(141): Show |
158 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(155): Show |
intron_variant | MODIFIER | c.640-1200G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846524 | |||||||
| chr16:8846526 | G | C | 4 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-1198G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846526 | |||||||
| chr16:8846565 | G | T | 225 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(222): Show |
243 | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(240): Show |
intron_variant | MODIFIER | c.640-1159G>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846565 | |||||||
| chr16:8846596 | C | T | 1 | a0001c0001t0029g0313 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.640-1128C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846596 | |||||||
| chr16:8846599 | A | C | 72 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(69): Show |
76 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(73): Show |
intron_variant | MODIFIER | c.640-1125A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846599 | |||||||
| chr16:8846612 | C | T | 3 | a0001c0001t0003g0019 a0001c0001t0003g0344 a0001c0001t0003g0350 |
4 | HG01192.hp1 HG01978.hp1 HG01981.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-1112C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846612 | |||||||
| chr16:8846613 | C | G | 1 | a0001c0001t0034g0040 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.640-1111C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846613 | |||||||
| chr16:8846695 | G | A | 1 | a0001c0001t0003g0346 | 1 | NA18950.hp1 | intron_variant | MODIFIER | c.640-1029G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846695 | |||||||
| chr16:8846710 | G | C | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-1014G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846710 | |||||||
| chr16:8846715 | G | C | 288 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(285): Show |
306 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(303): Show |
intron_variant | MODIFIER | c.640-1009G>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846715 | |||||||
| chr16:8846733 | T | A | 1 | a0001c0001t0001g0305 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.640-991T>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846733 | |||||||
| chr16:8846847 | A | C | 1 | a0001c0001t0002g0262 | 1 | NA18989.hp2 | intron_variant | MODIFIER | c.640-877A>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846847 | |||||||
| chr16:8846847 | A | T | 291 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(288): Show |
309 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(306): Show |
intron_variant | MODIFIER | c.640-877A>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846847 | |||||||
| chr16:8846954 | C | T | 1 | a0001c0001t0019g0005 | 2 | HG01106.hp2 HG01109.hp2 |
intron_variant | MODIFIER | c.640-770C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846954 | |||||||
| chr16:8846968 | A | G | 7 | a0001c0001t0001g0113 a0001c0001t0001g0127 a0001c0001t0001g0128 others(4): Show |
7 | HG00597.hp1 HG03579.hp2 NA18747.hp2 others(4): Show |
intron_variant | MODIFIER | c.640-756A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846968 | |||||||
| chr16:8846989 | G | A | 1 | a0001c0001t0002g0237 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.640-735G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8846989 | |||||||
| chr16:8847009 | G | A | 1 | a0001c0001t0002g0291 | 1 | NA18975.hp2 | intron_variant | MODIFIER | c.640-715G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847009 | |||||||
| chr16:8847040 | T | C | 70 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(67): Show |
74 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.640-684T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847040 | |||||||
| chr16:8847103 | A | G | 2 | a0001c0001t0020g0218 a0001c0001t0020g0281 |
2 | HG02630.hp1 HG02647.hp1 |
intron_variant | MODIFIER | c.640-621A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847103 | |||||||
| chr16:8847267 | C | T | 1 | a0001c0001t0002g0236 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.640-457C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847267 | |||||||
| chr16:8847282 | G | A | 120 | a0001c0001t0002g0002 a0001c0001t0002g0012 a0001c0001t0002g0013 others(117): Show |
124 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(121): Show |
intron_variant | MODIFIER | c.640-442G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847282 | |||||||
| chr16:8847377 | T | TA | 76 | a0001c0001t0001g0128 a0001c0001t0001g0191 a0001c0001t0003g0017 others(73): Show |
81 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(78): Show |
intron_variant | MODIFIER | c.640-331dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8847377 | ||||||
| chr16:8847377 | T | TAA | 190 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(187): Show |
206 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(203): Show |
intron_variant | MODIFIER | c.640-332_640-331dup others(2): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8847377 | ||||||
| chr16:8847377 | T | TAAA | 95 | a0001c0001t0001g0061 a0001c0001t0001g0072 a0001c0001t0001g0142 others(92): Show |
97 | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(94): Show |
intron_variant | MODIFIER | c.640-333_640-331dup others(3): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8847377 | ||||||
| chr16:8847394 | C | A | 1 | a0001c0001t0001g0316 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.640-330C>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847394 | |||||||
| chr16:8847409 | A | G | 1 | a0001c0001t0004g0307 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.640-315A>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847409 | |||||||
| chr16:8847420 | C | T | 1 | a0001c0001t0005g0177 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.640-304C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847420 | |||||||
| chr16:8847423 | T | C | 2 | a0001c0001t0006g0203 a0001c0001t0006g0207 |
2 | NA18522.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.640-301T>C | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847423 | |||||||
| chr16:8847439 | G | GA | 70 | a0001c0001t0003g0017 a0001c0001t0003g0018 a0001c0001t0003g0019 others(67): Show |
74 | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(71): Show |
intron_variant | MODIFIER | c.640-280dupA | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8847439 | ||||||
| chr16:8847632 | G | GT | 4 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-86dupT | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | 8847632 | ||||||
| chr16:8847678 | G | A | 4 | a0001c0001t0014g0041 a0001c0001t0014g0042 a0001c0001t0014g0043 others(1): Show |
4 | HG02257.hp2 HG02486.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.640-46G>A | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847678 | |||||||
| chr16:8847696 | C | G | 2 | a0001c0001t0013g0011 a0001c0001t0013g0216 |
3 | HG01167.hp1 HG01169.hp1 HG03516.hp1 |
intron_variant | MODIFIER | c.640-28C>G | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847696 | |||||||
| chr16:8847711 | C | T | 1 | a0001c0001t0004g0299 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.640-13C>T | PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | chr16 | 8847711 |