Item | Value |
---|---|
geneid | 134957 |
ensemblid | ENSG00000164506.16 |
hgncid | 19665 |
symbol | STXBP5 |
name | syntaxin binding protein 5 |
refseq_nuc | NM_001127715.4 |
refseq_prot | NP_001121187.1 |
ensembl_nuc | ENST00000321680.11 |
ensembl_prot | ENSP00000321826.6 |
mane_status | MANE Select |
chr | chr6 |
start | 147204417 |
end | 147390473 |
strand | + |
ver | v1.2 |
region | chr6:147204417-147390473 |
region5000 | chr6:147199417-147395473 |
regionname0 | STXBP5_chr6_147204417_147390473 |
regionname5000 | STXBP5_chr6_147199417_147395473 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 1151 | 216 | 58 | 28 | 108 | 7 | 13 | 86 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
a0002 | 0/0 | 1151 | 126 | 28 | 26 | 47 | 6 | 19 | 39 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
a0003 | 0/0 | 1151 | 4 | 3 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
a0004 | 0/0 | 1151 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
a0005 | 0/0 | 1151 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
a0006 | 0/0 | 1151 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
a0007 | 0/0 | 1151 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | MRKFN others(1146): Show |
chr6 | 147199417 | 147395473 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 3453 | 186 | 33 | 25 | 107 | 7 | 12 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0001c0003 | 0/0 | 3453 | 11 | 9 | 2 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0001c0004 | 0/0 | 3453 | 9 | 9 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0001c0006 | 0/0 | 3453 | 4 | 4 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0001c0007 | 0/0 | 3453 | 3 | 3 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0001c0008 | 0/0 | 3453 | 2 | 0 | 1 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0001c0011 | 0/0 | 3453 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0002c0002 | 0/0 | 3453 | 124 | 28 | 26 | 45 | 6 | 19 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0002c0012 | 0/0 | 3453 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0002c0014 | 0/0 | 3453 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0003c0005 | 0/0 | 3453 | 4 | 3 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0004c0013 | 0/0 | 3453 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0005c0010 | 0/0 | 3453 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0006c0015 | 0/0 | 3453 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 | ||
a0007c0009 | 0/0 | 3453 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ATGAG others(3448): Show |
chr6 | 147199417 | 147395473 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 9290 | 100 | 6 | 18 | 60 | 7 | 7 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0003 | 0/0 | 9290 | 33 | 1 | 2 | 28 | 0 | 2 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0005 | 0/0 | 9290 | 7 | 7 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0006 | 0/0 | 9290 | 7 | 0 | 2 | 5 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0010 | 0/0 | 9290 | 6 | 0 | 0 | 6 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0011 | 0/0 | 9290 | 5 | 5 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0012 | 0/0 | 9290 | 5 | 5 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0013 | 0/0 | 9288 | 3 | 0 | 1 | 0 | 0 | 2 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9283): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0016 | 0/0 | 9291 | 3 | 1 | 0 | 2 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9286): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0018 | 0/0 | 9290 | 3 | 2 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0022 | 0/0 | 9290 | 2 | 0 | 0 | 2 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0023 | 0/0 | 9290 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0024 | 0/0 | 9290 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0025 | 0/0 | 9291 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9286): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0026 | 0/0 | 9288 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9283): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0034 | 0/0 | 9291 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9286): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0036 | 0/0 | 9290 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0038 | 0/0 | 9290 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0039 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0040 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0041 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0042 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0001t0043 | 0/0 | 9290 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0003t0002 | 0/0 | 9290 | 5 | 3 | 2 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0003t0009 | 0/0 | 9290 | 6 | 6 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0004t0007 | 0/0 | 9290 | 7 | 7 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0004t0021 | 0/0 | 9290 | 2 | 2 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0006t0002 | 0/0 | 9290 | 4 | 4 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0007t0019 | 0/0 | 9292 | 3 | 3 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9287): Show |
chr6 | 147199417 | 147395473 |
a0001c0008t0001 | 0/0 | 9290 | 2 | 0 | 1 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0001c0011t0003 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0001 | 0/0 | 9290 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0002 | 0/0 | 9290 | 92 | 15 | 25 | 32 | 5 | 15 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0004 | 0/0 | 9290 | 8 | 0 | 0 | 8 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0008 | 0/0 | 9291 | 7 | 7 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9286): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0014 | 0/0 | 9290 | 4 | 4 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0017 | 0/0 | 9291 | 3 | 0 | 0 | 3 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9286): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0020 | 0/0 | 9290 | 2 | 0 | 1 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0029 | 0/0 | 9290 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0030 | 0/0 | 9291 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9286): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0031 | 0/0 | 9290 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0032 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0033 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0035 | 0/0 | 9290 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0002t0037 | 0/0 | 9290 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0012t0003 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0002c0014t0002 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0003c0005t0015 | 0/0 | 9293 | 4 | 3 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9288): Show |
chr6 | 147199417 | 147395473 |
a0004c0013t0013 | 0/0 | 9288 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9283): Show |
chr6 | 147199417 | 147395473 |
a0005c0010t0028 | 0/0 | 9290 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
a0006c0015t0027 | 0/0 | 9292 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9287): Show |
chr6 | 147199417 | 147395473 |
a0007c0009t0003 | 0/0 | 9290 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | ACACT others(9285): Show |
chr6 | 147199417 | 147395473 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0054 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0072 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0170 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0197 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0198 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0199 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0200 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0201 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0203 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0204 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0205 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0206 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0207 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0208 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0209 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0211 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0212 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0214 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0215 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0216 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0217 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0218 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0219 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0220 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0221 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0222 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0223 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0225 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0226 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0227 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0228 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0229 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0230 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0231 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0232 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0233 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0234 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0235 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0236 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0237 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0238 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0239 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0241 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0242 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0243 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0244 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0245 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0246 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0247 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0249 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0250 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0251 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0252 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0253 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0254 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0255 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0256 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0257 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0258 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0259 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0264 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0265 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0266 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0267 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0268 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0269 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0270 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0272 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0273 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0274 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0275 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0276 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0277 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0279 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0280 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0282 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0283 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0284 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0285 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0287 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0288 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0289 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0290 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0291 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0292 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0293 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0294 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0297 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0298 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0299 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0300 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0301 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0302 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0303 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0304 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0305 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0001g0306 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0021 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0048 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0049 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0050 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0051 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0052 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0053 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0055 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0057 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0059 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0060 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0144 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0145 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0202 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0307 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0315 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0316 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0317 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0318 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0320 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0325 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0326 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0328 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0329 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0330 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0332 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0338 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0339 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0340 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0344 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0003g0345 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0038 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0041 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0005g0161 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0087 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0116 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0152 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0153 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0006g0166 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0010g0312 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0010g0322 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0010g0323 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0010g0324 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0010g0327 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0010g0333 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0011g0260 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0011g0261 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0011g0262 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0011g0263 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0011g0331 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0012g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0012g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0012g0342 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0012g0343 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0012g0346 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0013g0177 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0013g0178 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0013g0184 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0016g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0016g0278 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0016g0286 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0018g0334 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0018g0335 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0018g0336 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0022g0271 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0022g0296 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0023g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0024g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0025g0281 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0026g0176 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0034g0162 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0036g0169 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0038g0337 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0039g0058 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0040g0313 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0041g0141 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0042g0321 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0001t0043g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0002g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0002g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0002g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0002g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0002g0295 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0009g0186 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0009g0187 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0009g0188 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0009g0189 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0009g0190 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0003t0009g0191 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0172 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0007g0341 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0021g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0004t0021g0175 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0006t0002g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0006t0002g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0006t0002g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0006t0002g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0007t0019g0308 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0007t0019g0309 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0007t0019g0310 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0008t0001g0347 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0008t0001g0348 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0001c0011t0003g0314 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0001g0350 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0003 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0024 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0025 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0026 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0031 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0056 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0062 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0064 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0065 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0069 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0076 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0077 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0078 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0084 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0086 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0088 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0094 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0096 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0098 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0111 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0113 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0117 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0121 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0126 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0127 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0130 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0131 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0132 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0134 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0135 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0136 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0139 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0140 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0147 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0148 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0149 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0150 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0151 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0154 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0155 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0158 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0159 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0160 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0163 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0164 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0165 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0167 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0168 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0171 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0192 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0193 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0194 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0195 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0196 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0210 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0213 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0002g0240 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0061 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0102 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0110 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0118 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0004g0129 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0142 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0143 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0173 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0174 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0181 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0248 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0008g0311 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0014g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0014g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0014g0156 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0014g0157 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0017g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0017g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0017g0125 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0020g0073 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0020g0146 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0029g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0030g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0031g0119 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0032g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0033g0349 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0035g0063 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0002t0037g0133 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0012t0003g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0002c0014t0002g0095 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0003c0005t0015g0179 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0003c0005t0015g0180 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0003c0005t0015g0182 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0003c0005t0015g0183 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0004c0013t0013g0185 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0005c0010t0028g0224 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0006c0015t0027g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
a0007c0009t0003g0319 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00099 | hp1 | a0001 | c0001 | t0001 | g0212 | EUR | GBR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00099 | hp2 | a0002 | c0002 | t0002 | g0130 | EUR | GBR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00140 | hp1 | a0002 | c0002 | t0002 | g0194 | EUR | GBR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00140 | hp2 | a0001 | c0001 | t0001 | g0299 | EUR | GBR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00280 | hp1 | a0002 | c0002 | t0002 | g0077 | EUR | FIN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00280 | hp2 | a0001 | c0001 | t0001 | g0274 | EUR | FIN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00323 | hp1 | a0001 | c0001 | t0001 | g0303 | EUR | FIN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00323 | hp2 | a0004 | c0013 | t0013 | g0185 | EUR | FIN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00423 | hp1 | a0001 | c0001 | t0001 | g0276 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00423 | hp2 | a0002 | c0002 | t0002 | g0027 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00438 | hp1 | a0001 | c0001 | t0003 | g0325 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00438 | hp2 | a0001 | c0001 | t0001 | g0242 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00544 | hp1 | a0001 | c0001 | t0001 | g0204 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00544 | hp2 | a0001 | c0001 | t0003 | g0315 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00558 | hp1 | a0002 | c0002 | t0002 | g0240 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0225 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00621 | hp1 | a0001 | c0001 | t0001 | g0250 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00621 | hp2 | a0001 | c0001 | t0010 | g0324 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0264 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00639 | hp2 | a0002 | c0002 | t0002 | g0103 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00642 | hp1 | a0002 | c0002 | t0002 | g0195 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00642 | hp2 | a0002 | c0002 | t0002 | g0075 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0226 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00673 | hp2 | a0001 | c0001 | t0041 | g0141 | EAS | CHS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00735 | hp1 | a0002 | c0002 | t0002 | g0104 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00735 | hp2 | a0001 | c0001 | t0001 | g0207 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00738 | hp1 | a0005 | c0010 | t0028 | g0224 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00738 | hp2 | a0002 | c0002 | t0002 | g0136 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00741 | hp1 | a0002 | c0002 | t0002 | g0096 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG00741 | hp2 | a0002 | c0002 | t0002 | g0196 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01071 | hp1 | a0001 | c0001 | t0001 | g0236 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01071 | hp2 | a0002 | c0002 | t0002 | g0062 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01081 | hp1 | a0002 | c0002 | t0002 | g0134 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01081 | hp2 | a0001 | c0001 | t0018 | g0334 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01099 | hp1 | a0001 | c0001 | t0001 | g0306 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01099 | hp2 | a0002 | c0002 | t0002 | g0071 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01109 | hp1 | a0001 | c0001 | t0001 | g0269 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01109 | hp2 | a0003 | c0005 | t0015 | g0180 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01175 | hp1 | a0001 | c0001 | t0001 | g0290 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01175 | hp2 | a0002 | c0002 | t0002 | g0121 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01192 | hp1 | a0001 | c0001 | t0025 | g0281 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01192 | hp2 | a0001 | c0001 | t0013 | g0184 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01243 | hp1 | a0002 | c0002 | t0002 | g0070 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0237 | AMR | PUR | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01255 | hp1 | a0002 | c0002 | t0002 | g0081 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01255 | hp2 | a0001 | c0001 | t0006 | g0087 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01256 | hp1 | a0002 | c0002 | t0020 | g0073 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01256 | hp2 | a0001 | c0008 | t0001 | g0347 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01261 | hp1 | a0002 | c0002 | t0002 | g0064 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01261 | hp2 | a0001 | c0001 | t0001 | g0251 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01346 | hp1 | a0002 | c0002 | t0002 | g0074 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0198 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01358 | hp1 | a0001 | c0001 | t0001 | g0208 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01358 | hp2 | a0002 | c0002 | t0002 | g0210 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01433 | hp1 | a0001 | c0001 | t0001 | g0294 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01433 | hp2 | a0002 | c0002 | t0002 | g0082 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01496 | hp1 | a0001 | c0001 | t0001 | g0209 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01496 | hp2 | a0001 | c0001 | t0003 | g0344 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01515 | hp1 | a0002 | c0002 | t0020 | g0146 | EUR | IBS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01515 | hp2 | a0001 | c0001 | t0001 | g0230 | EUR | IBS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01517 | hp1 | a0002 | c0002 | t0002 | g0165 | EUR | IBS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01517 | hp2 | a0001 | c0001 | t0001 | g0223 | EUR | IBS | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01884 | hp1 | a0001 | c0004 | t0007 | g0017 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01884 | hp2 | a0001 | c0001 | t0001 | g0282 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01891 | hp1 | a0002 | c0002 | t0002 | g0137 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01891 | hp2 | a0002 | c0002 | t0014 | g0156 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01934 | hp1 | a0002 | c0002 | t0002 | g0148 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01934 | hp2 | a0001 | c0001 | t0003 | g0332 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01943 | hp1 | a0001 | c0001 | t0001 | g0245 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01943 | hp2 | a0001 | c0001 | t0006 | g0166 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01978 | hp1 | a0001 | c0001 | t0001 | g0235 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01978 | hp2 | a0002 | c0002 | t0002 | g0149 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01993 | hp1 | a0002 | c0002 | t0002 | g0085 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01993 | hp2 | a0001 | c0003 | t0002 | g0010 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02004 | hp1 | a0002 | c0002 | t0002 | g0154 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02004 | hp2 | a0001 | c0003 | t0002 | g0295 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02027 | hp1 | a0001 | c0001 | t0003 | g0055 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02027 | hp2 | a0001 | c0001 | t0001 | g0232 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02055 | hp1 | a0002 | c0002 | t0014 | g0019 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02055 | hp2 | a0001 | c0001 | t0005 | g0041 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02056 | hp1 | a0001 | c0001 | t0003 | g0002 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02056 | hp2 | a0002 | c0002 | t0002 | g0056 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02083 | hp1 | a0001 | c0001 | t0001 | g0234 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02083 | hp2 | a0002 | c0002 | t0002 | g0167 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02129 | hp1 | a0002 | c0002 | t0002 | g0106 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02129 | hp2 | a0001 | c0001 | t0001 | g0247 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02132 | hp1 | a0002 | c0002 | t0002 | g0084 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02132 | hp2 | a0001 | c0001 | t0001 | g0241 | EAS | KHV | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02145 | hp1 | a0002 | c0002 | t0008 | g0248 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02145 | hp2 | a0002 | c0002 | t0002 | g0135 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02148 | hp1 | a0002 | c0002 | t0002 | g0117 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0206 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02155 | hp1 | a0001 | c0001 | t0003 | g0057 | EAS | CDX | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02155 | hp2 | a0002 | c0002 | t0002 | g0213 | EAS | CDX | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02165 | hp1 | a0001 | c0001 | t0010 | g0333 | EAS | CDX | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0300 | EAS | CDX | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02257 | hp1 | a0002 | c0002 | t0002 | g0091 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02257 | hp2 | a0001 | c0004 | t0007 | g0013 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02258 | hp1 | a0001 | c0004 | t0007 | g0014 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02258 | hp2 | a0002 | c0002 | t0008 | g0173 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02273 | hp1 | a0002 | c0002 | t0002 | g0112 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0305 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02293 | hp1 | a0002 | c0002 | t0002 | g0155 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02293 | hp2 | a0001 | c0001 | t0001 | g0216 | AMR | PEL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02451 | hp1 | a0001 | c0007 | t0019 | g0309 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02451 | hp2 | a0001 | c0001 | t0011 | g0261 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02572 | hp1 | a0006 | c0015 | t0027 | g0036 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02572 | hp2 | a0001 | c0001 | t0016 | g0046 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02602 | hp1 | a0001 | c0001 | t0001 | g0219 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02602 | hp2 | a0002 | c0002 | t0002 | g0067 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02615 | hp1 | a0002 | c0002 | t0002 | g0159 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02615 | hp2 | a0001 | c0004 | t0007 | g0016 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02630 | hp1 | a0002 | c0002 | t0002 | g0032 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02630 | hp2 | a0001 | c0001 | t0011 | g0331 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02647 | hp1 | a0003 | c0005 | t0015 | g0179 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02647 | hp2 | a0001 | c0004 | t0021 | g0175 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02717 | hp1 | a0002 | c0002 | t0014 | g0157 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02717 | hp2 | a0001 | c0003 | t0009 | g0186 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02723 | hp1 | a0001 | c0003 | t0009 | g0190 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02723 | hp2 | a0001 | c0001 | t0005 | g0038 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02735 | hp1 | a0001 | c0001 | t0001 | g0285 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02735 | hp2 | a0002 | c0002 | t0002 | g0068 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02809 | hp1 | a0002 | c0002 | t0002 | g0033 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02809 | hp2 | a0001 | c0001 | t0011 | g0263 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02886 | hp1 | a0003 | c0005 | t0015 | g0183 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02886 | hp2 | a0002 | c0002 | t0002 | g0168 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02895 | hp1 | a0001 | c0003 | t0009 | g0187 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02895 | hp2 | a0001 | c0001 | t0005 | g0042 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02896 | hp1 | a0001 | c0006 | t0002 | g0005 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02896 | hp2 | a0001 | c0001 | t0005 | g0043 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02897 | hp1 | a0001 | c0006 | t0002 | g0006 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02897 | hp2 | a0001 | c0003 | t0009 | g0188 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02922 | hp1 | a0002 | c0002 | t0008 | g0174 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02922 | hp2 | a0001 | c0004 | t0021 | g0047 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02965 | hp1 | a0001 | c0001 | t0001 | g0029 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02965 | hp2 | a0002 | c0002 | t0008 | g0143 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02970 | hp1 | a0001 | c0001 | t0005 | g0044 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02970 | hp2 | a0001 | c0001 | t0001 | g0170 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02976 | hp1 | a0001 | c0003 | t0009 | g0189 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02976 | hp2 | a0002 | c0002 | t0002 | g0164 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03017 | hp1 | a0001 | c0001 | t0001 | g0218 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03017 | hp2 | a0002 | c0002 | t0002 | g0131 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03041 | hp1 | a0002 | c0002 | t0002 | g0163 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03041 | hp2 | a0001 | c0003 | t0002 | g0011 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03098 | hp1 | a0001 | c0001 | t0001 | g0012 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03098 | hp2 | a0002 | c0002 | t0008 | g0181 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03130 | hp1 | a0001 | c0001 | t0012 | g0342 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03130 | hp2 | a0001 | c0001 | t0018 | g0335 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03139 | hp1 | a0002 | c0002 | t0002 | g0171 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03139 | hp2 | a0001 | c0001 | t0023 | g0018 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03195 | hp1 | a0001 | c0001 | t0043 | g0037 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03195 | hp2 | a0002 | c0002 | t0002 | g0160 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03209 | hp1 | a0001 | c0001 | t0005 | g0161 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03209 | hp2 | a0001 | c0001 | t0012 | g0343 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03225 | hp1 | a0002 | c0002 | t0002 | g0158 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03225 | hp2 | a0002 | c0002 | t0029 | g0045 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03239 | hp1 | a0002 | c0002 | t0002 | g0113 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03239 | hp2 | a0001 | c0001 | t0001 | g0287 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03453 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03453 | hp2 | a0002 | c0002 | t0030 | g0023 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03490 | hp1 | a0002 | c0002 | t0001 | g0350 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03490 | hp2 | a0001 | c0001 | t0003 | g0329 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03491 | hp1 | a0002 | c0002 | t0002 | g0192 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03491 | hp2 | a0002 | c0002 | t0002 | g0094 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03492 | hp1 | a0002 | c0002 | t0002 | g0193 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03492 | hp2 | a0001 | c0001 | t0003 | g0330 | SAS | PJL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03516 | hp1 | a0001 | c0004 | t0007 | g0341 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03516 | hp2 | a0001 | c0001 | t0024 | g0039 | AFR | ESN | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03540 | hp1 | a0001 | c0006 | t0002 | g0004 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03540 | hp2 | a0001 | c0001 | t0012 | g0035 | AFR | GWD | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03579 | hp1 | a0001 | c0001 | t0012 | g0034 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03579 | hp2 | a0001 | c0007 | t0019 | g0310 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03688 | hp1 | a0002 | c0002 | t0002 | g0150 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03688 | hp2 | a0002 | c0002 | t0002 | g0132 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03831 | hp1 | a0002 | c0002 | t0002 | g0086 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03831 | hp2 | a0002 | c0002 | t0002 | g0003 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03834 | hp1 | a0002 | c0002 | t0002 | g0139 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03834 | hp2 | a0001 | c0001 | t0026 | g0176 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03927 | hp1 | a0002 | c0002 | t0002 | g0078 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03927 | hp2 | a0001 | c0001 | t0013 | g0177 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04184 | hp1 | a0001 | c0008 | t0001 | g0348 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04184 | hp2 | a0002 | c0002 | t0035 | g0063 | SAS | BEB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04199 | hp1 | a0002 | c0002 | t0002 | g0069 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04199 | hp2 | a0002 | c0002 | t0031 | g0119 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04204 | hp1 | a0001 | c0001 | t0001 | g0270 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04204 | hp2 | a0002 | c0002 | t0002 | g0127 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04228 | hp1 | a0001 | c0001 | t0013 | g0178 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0288 | SAS | STU | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18522 | hp1 | a0001 | c0003 | t0002 | g0009 | AFR | YRI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18522 | hp2 | a0001 | c0001 | t0018 | g0336 | AFR | YRI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18612 | hp1 | a0001 | c0001 | t0001 | g0199 | EAS | CHB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18612 | hp2 | a0002 | c0002 | t0002 | g0120 | EAS | CHB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0197 | EAS | CHB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18747 | hp2 | a0001 | c0001 | t0003 | g0060 | EAS | CHB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18906 | hp1 | a0001 | c0004 | t0007 | g0172 | AFR | YRI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18906 | hp2 | a0001 | c0001 | t0001 | g0293 | AFR | YRI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18939 | hp1 | a0001 | c0001 | t0003 | g0307 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18939 | hp2 | a0002 | c0002 | t0002 | g0108 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18940 | hp1 | a0002 | c0002 | t0032 | g0080 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18940 | hp2 | a0001 | c0001 | t0016 | g0286 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18941 | hp1 | a0002 | c0002 | t0002 | g0126 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18941 | hp2 | a0001 | c0001 | t0001 | g0253 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18944 | hp1 | a0001 | c0001 | t0001 | g0266 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18944 | hp2 | a0001 | c0001 | t0006 | g0116 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18945 | hp1 | a0002 | c0002 | t0004 | g0110 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18945 | hp2 | a0001 | c0001 | t0003 | g0317 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18946 | hp1 | a0002 | c0002 | t0004 | g0102 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18946 | hp2 | a0001 | c0001 | t0001 | g0214 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18947 | hp1 | a0001 | c0001 | t0001 | g0272 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18947 | hp2 | a0002 | c0002 | t0002 | g0089 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18949 | hp1 | a0001 | c0001 | t0003 | g0059 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18949 | hp2 | a0002 | c0002 | t0002 | g0122 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18950 | hp1 | a0001 | c0001 | t0016 | g0278 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18950 | hp2 | a0001 | c0001 | t0003 | g0022 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18952 | hp1 | a0001 | c0001 | t0003 | g0316 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18952 | hp2 | a0001 | c0001 | t0001 | g0275 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18953 | hp1 | a0001 | c0001 | t0001 | g0256 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18953 | hp2 | a0002 | c0002 | t0002 | g0124 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18960 | hp1 | a0002 | c0002 | t0002 | g0098 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18960 | hp2 | a0007 | c0009 | t0003 | g0319 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18961 | hp1 | a0001 | c0001 | t0001 | g0228 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18961 | hp2 | a0001 | c0001 | t0006 | g0114 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18962 | hp1 | a0001 | c0001 | t0039 | g0058 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18962 | hp2 | a0001 | c0001 | t0001 | g0254 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18963 | hp1 | a0001 | c0001 | t0001 | g0243 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18963 | hp2 | a0002 | c0002 | t0004 | g0118 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18967 | hp1 | a0002 | c0002 | t0017 | g0066 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18967 | hp2 | a0001 | c0001 | t0022 | g0296 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18968 | hp1 | a0001 | c0001 | t0006 | g0153 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0200 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18969 | hp1 | a0001 | c0001 | t0001 | g0215 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18969 | hp2 | a0001 | c0001 | t0003 | g0049 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18970 | hp1 | a0002 | c0002 | t0002 | g0025 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18970 | hp2 | a0001 | c0001 | t0001 | g0283 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18971 | hp1 | a0002 | c0002 | t0002 | g0128 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0227 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18972 | hp1 | a0002 | c0002 | t0002 | g0100 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18972 | hp2 | a0001 | c0001 | t0001 | g0221 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18974 | hp1 | a0001 | c0001 | t0003 | g0052 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18974 | hp2 | a0002 | c0002 | t0017 | g0079 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18977 | hp1 | a0001 | c0001 | t0001 | g0279 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18977 | hp2 | a0002 | c0002 | t0017 | g0125 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0252 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18979 | hp2 | a0002 | c0012 | t0003 | g0123 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18980 | hp1 | a0001 | c0001 | t0010 | g0312 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18980 | hp2 | a0002 | c0002 | t0002 | g0111 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18982 | hp1 | a0002 | c0014 | t0002 | g0095 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18982 | hp2 | a0001 | c0001 | t0001 | g0238 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0268 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18983 | hp2 | a0001 | c0001 | t0003 | g0053 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18985 | hp1 | a0001 | c0001 | t0003 | g0202 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18985 | hp2 | a0001 | c0001 | t0001 | g0054 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18988 | hp1 | a0001 | c0001 | t0042 | g0321 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18988 | hp2 | a0001 | c0001 | t0001 | g0302 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18990 | hp1 | a0001 | c0001 | t0003 | g0320 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18990 | hp2 | a0001 | c0001 | t0001 | g0301 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18993 | hp1 | a0002 | c0002 | t0002 | g0026 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18993 | hp2 | a0001 | c0001 | t0003 | g0345 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0265 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18998 | hp2 | a0002 | c0002 | t0002 | g0083 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19000 | hp1 | a0001 | c0001 | t0001 | g0258 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19000 | hp2 | a0002 | c0002 | t0002 | g0092 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19002 | hp1 | a0001 | c0001 | t0001 | g0233 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19002 | hp2 | a0002 | c0002 | t0002 | g0090 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19003 | hp1 | a0002 | c0002 | t0004 | g0129 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19003 | hp2 | a0001 | c0001 | t0001 | g0292 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19004 | hp1 | a0001 | c0001 | t0006 | g0115 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19004 | hp2 | a0001 | c0001 | t0001 | g0267 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19005 | hp1 | a0002 | c0002 | t0004 | g0061 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19005 | hp2 | a0001 | c0001 | t0001 | g0239 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19006 | hp1 | a0001 | c0001 | t0001 | g0201 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19006 | hp2 | a0001 | c0001 | t0003 | g0048 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0231 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19011 | hp2 | a0002 | c0002 | t0002 | g0088 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19012 | hp1 | a0001 | c0001 | t0001 | g0244 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19012 | hp2 | a0002 | c0002 | t0033 | g0349 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19030 | hp1 | a0001 | c0001 | t0012 | g0346 | AFR | LWK | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19030 | hp2 | a0001 | c0004 | t0007 | g0015 | AFR | LWK | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19043 | hp1 | a0002 | c0002 | t0014 | g0020 | AFR | LWK | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19043 | hp2 | a0001 | c0001 | t0005 | g0040 | AFR | LWK | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19054 | hp1 | a0001 | c0001 | t0001 | g0255 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19054 | hp2 | a0002 | c0002 | t0004 | g0097 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19056 | hp1 | a0001 | c0001 | t0001 | g0205 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19056 | hp2 | a0001 | c0001 | t0010 | g0322 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19058 | hp1 | a0002 | c0002 | t0002 | g0109 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19058 | hp2 | a0001 | c0001 | t0001 | g0222 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19060 | hp1 | a0001 | c0001 | t0010 | g0327 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19060 | hp2 | a0002 | c0002 | t0002 | g0151 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19062 | hp1 | a0001 | c0001 | t0001 | g0217 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19062 | hp2 | a0002 | c0002 | t0002 | g0099 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19063 | hp1 | a0001 | c0001 | t0003 | g0340 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19063 | hp2 | a0001 | c0001 | t0001 | g0249 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19064 | hp1 | a0001 | c0001 | t0006 | g0152 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19064 | hp2 | a0001 | c0001 | t0022 | g0271 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19065 | hp1 | a0001 | c0001 | t0003 | g0021 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19065 | hp2 | a0001 | c0001 | t0001 | g0280 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19066 | hp1 | a0002 | c0002 | t0002 | g0105 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19066 | hp2 | a0001 | c0001 | t0001 | g0220 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19068 | hp1 | a0001 | c0001 | t0010 | g0323 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19068 | hp2 | a0001 | c0001 | t0001 | g0284 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19070 | hp1 | a0001 | c0001 | t0001 | g0246 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19070 | hp2 | a0001 | c0001 | t0003 | g0326 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19072 | hp1 | a0001 | c0001 | t0001 | g0298 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19072 | hp2 | a0001 | c0001 | t0003 | g0328 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19075 | hp1 | a0002 | c0002 | t0002 | g0101 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19075 | hp2 | a0001 | c0001 | t0003 | g0339 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19077 | hp1 | a0001 | c0001 | t0001 | g0259 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19077 | hp2 | a0002 | c0002 | t0002 | g0024 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19079 | hp1 | a0001 | c0001 | t0003 | g0145 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19079 | hp2 | a0001 | c0001 | t0001 | g0257 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19080 | hp1 | a0001 | c0001 | t0001 | g0273 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19080 | hp2 | a0002 | c0002 | t0004 | g0107 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19081 | hp1 | a0001 | c0001 | t0003 | g0318 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19081 | hp2 | a0001 | c0001 | t0001 | g0229 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19083 | hp1 | a0001 | c0001 | t0001 | g0203 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19083 | hp2 | a0002 | c0002 | t0002 | g0028 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19084 | hp1 | a0001 | c0001 | t0040 | g0313 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19084 | hp2 | a0002 | c0002 | t0002 | g0065 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19088 | hp1 | a0001 | c0001 | t0001 | g0291 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19088 | hp2 | a0001 | c0001 | t0003 | g0051 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19090 | hp1 | a0001 | c0001 | t0003 | g0050 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19090 | hp2 | a0002 | c0002 | t0004 | g0093 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19091 | hp1 | a0002 | c0002 | t0002 | g0140 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19091 | hp2 | a0001 | c0011 | t0003 | g0314 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19240 | hp1 | a0001 | c0001 | t0036 | g0169 | AFR | YRI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA19240 | hp2 | a0001 | c0006 | t0002 | g0007 | AFR | YRI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA20752 | hp1 | a0002 | c0002 | t0002 | g0031 | EUR | TSI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA20752 | hp2 | a0001 | c0001 | t0001 | g0297 | EUR | TSI | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA20905 | hp1 | a0002 | c0002 | t0037 | g0133 | SAS | GIH | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA20905 | hp2 | a0001 | c0001 | t0001 | g0211 | SAS | GIH | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01123 | hp1 | a0002 | c0002 | t0002 | g0076 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG01123 | hp2 | a0001 | c0001 | t0001 | g0289 | AMR | CLM | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02109 | hp1 | a0002 | c0002 | t0008 | g0311 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02109 | hp2 | a0002 | c0002 | t0002 | g0138 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02486 | hp1 | a0002 | c0002 | t0002 | g0030 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02486 | hp2 | a0001 | c0003 | t0002 | g0008 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02559 | hp1 | a0001 | c0001 | t0038 | g0337 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG02559 | hp2 | a0001 | c0007 | t0019 | g0308 | AFR | ACB | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03471 | hp1 | a0003 | c0005 | t0015 | g0182 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG03471 | hp2 | a0001 | c0001 | t0011 | g0260 | AFR | MSL | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG06807 | hp1 | a0001 | c0001 | t0011 | g0262 | AFR | USA | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
HG06807 | hp2 | a0001 | c0003 | t0009 | g0191 | AFR | USA | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18955 | hp1 | a0001 | c0001 | t0001 | g0277 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA18955 | hp2 | a0001 | c0001 | t0003 | g0144 | EAS | JPT | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA20300 | hp1 | a0001 | c0001 | t0003 | g0338 | AFR | USA | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA20300 | hp2 | a0002 | c0002 | t0002 | g0147 | AFR | USA | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA21309 | hp1 | a0001 | c0001 | t0034 | g0162 | AFR | LWK | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
NA21309 | hp2 | a0002 | c0002 | t0008 | g0142 | AFR | LWK | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
homoSapiens | chm13v2 | a0001 | c0001 | t0001 | g0304 | REF | REF | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0072 | REF | REF | STXBP5_chr6_147199417_147395473 | STXBP5 | chr6 | 147199417 | 147395473 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr6:147267144 | G | A | 1 | a0007 | 1 | NA18960.hp2 | missense_variant | MODERATE | c.691G>A | p.Asp231Asn | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/28 | 807/9290 | 691/3456 | 231/1151 | chr6 | 147267144 | |||
chr6:147313972 | C | G | 1 | a0004 | 1 | HG00323.hp2 | missense_variant | MODERATE | c.1234C>G | p.Leu412Val | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/28 | 1350/9290 | 1234/3456 | 412/1151 | chr6 | 147313972 | |||
chr6:147314277 | A | G | 1 | a0002 | 126 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(123): Show |
missense_variant | MODERATE | c.1307A>G | p.Asn436Ser | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 13/28 | 1423/9290 | 1307/3456 | 436/1151 | chr6 | 147314277 | |||
chr6:147339379 | A | G | 1 | a0005 | 1 | HG00738.hp1 | missense_variant | MODERATE | c.2249A>G | p.Asp750Gly | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/28 | 2365/9290 | 2249/3456 | 750/1151 | chr6 | 147339379 | |||
chr6:147353330 | G | A | 1 | a0003 | 4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
missense_variant | MODERATE | c.2262G>A | p.Met754Ile | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/28 | 2378/9290 | 2262/3456 | 754/1151 | chr6 | 147353330 | |||
chr6:147359114 | G | A | 1 | a0006 | 1 | HG02572.hp1 | missense_variant | MODERATE | c.2336G>A | p.Arg779Gln | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/28 | 2452/9290 | 2336/3456 | 779/1151 | chr6 | 147359114 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr6:147206007 | C | T | 1 | a0006c0015 | 1 | HG02572.hp1 | synonymous_variant | LOW | c.187C>T | p.Leu63Leu | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/28 | 303/9290 | 187/3456 | 63/1151 | chr6 | 147206007 | |||
chr6:147267146 | C | T | 1 | a0002c0014 | 1 | NA18982.hp1 | synonymous_variant | LOW | c.693C>T | p.Asp231Asp | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/28 | 809/9290 | 693/3456 | 231/1151 | chr6 | 147267146 | |||
chr6:147339353 | A | G | 1 | a0001c0011 | 1 | NA19091.hp2 | synonymous_variant | LOW | c.2223A>G | p.Arg741Arg | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/28 | 2339/9290 | 2223/3456 | 741/1151 | chr6 | 147339353 | |||
chr6:147353336 | G | A | 1 | a0005c0010 | 1 | HG00738.hp1 | synonymous_variant | LOW | c.2268G>A | p.Arg756Arg | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/28 | 2384/9290 | 2268/3456 | 756/1151 | chr6 | 147353336 | |||
chr6:147359163 | C | T | 1 | a0001c0007 | 3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
synonymous_variant | LOW | c.2385C>T | p.Ser795Ser | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/28 | 2501/9290 | 2385/3456 | 795/1151 | chr6 | 147359163 | |||
chr6:147359191 | C | A | 1 | a0001c0006 | 4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
synonymous_variant | LOW | c.2413C>A | p.Arg805Arg | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/28 | 2529/9290 | 2413/3456 | 805/1151 | chr6 | 147359191 | |||
chr6:147359223 | A | G | 5 | a0001c0003 a0001c0006 a0002c0002 others(2): Show |
144 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(141): Show |
synonymous_variant | LOW | c.2445A>G | p.Leu815Leu | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/28 | 2561/9290 | 2445/3456 | 815/1151 | chr6 | 147359223 | |||
chr6:147363405 | A | G | 1 | a0001c0004 | 9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
synonymous_variant | LOW | c.2616A>G | p.Pro872Pro | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 24/28 | 2732/9290 | 2616/3456 | 872/1151 | chr6 | 147363405 | |||
chr6:147382977 | A | G | 1 | a0001c0008 | 2 | HG01256.hp2 HG04184.hp1 |
synonymous_variant | LOW | c.3393A>G | p.Ser1131Ser | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/28 | 3509/9290 | 3393/3456 | 1131/1151 | chr6 | 147382977 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr6:147204492 | G | T | 1 | a0001c0001t0043 | 1 | HG03195.hp1 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-41G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/28 | chr6 | 147204492 | |||||||
chr6:147204519 | G | A | 4 | a0001c0001t0005 a0001c0001t0023 a0001c0001t0024 others(1): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
5_prime_UTR_variant | MODIFIER | c.-14G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/28 | 14 | chr6 | 147204519 | ||||||
chr6:147385288 | T | A | 1 | a0002c0002t0020 | 2 | HG01256.hp1 HG01515.hp1 |
3_prime_UTR_variant | MODIFIER | c.*533T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 533 | chr6 | 147385288 | ||||||
chr6:147385460 | T | C | 1 | a0001c0001t0025 | 1 | HG01192.hp1 | 3_prime_UTR_variant | MODIFIER | c.*705T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 705 | chr6 | 147385460 | ||||||
chr6:147385655 | G | A | 6 | a0001c0001t0006 a0001c0001t0013 a0001c0001t0026 others(3): Show |
21 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*900G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 900 | chr6 | 147385655 | ||||||
chr6:147385861 | A | G | 13 | a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(10): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
3_prime_UTR_variant | MODIFIER | c.*1106A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 1106 | chr6 | 147385861 | ||||||
chr6:147386444 | C | A | 1 | a0001c0001t0038 | 1 | HG02559.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1689C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 1689 | chr6 | 147386444 | ||||||
chr6:147386550 | T | C | 1 | a0006c0015t0027 | 1 | HG02572.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1795T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 1795 | chr6 | 147386550 | ||||||
chr6:147386559 | A | T | 1 | a0002c0002t0037 | 1 | NA20905.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1804A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 1804 | chr6 | 147386559 | ||||||
chr6:147386654 | A | G | 1 | a0001c0003t0009 | 6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1899A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 1899 | chr6 | 147386654 | ||||||
chr6:147386780 | T | C | 1 | a0001c0001t0039 | 1 | NA18962.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2025T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2025 | chr6 | 147386780 | ||||||
chr6:147387081 | A | C | 1 | a0001c0001t0036 | 1 | NA19240.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2326A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2326 | chr6 | 147387081 | ||||||
chr6:147387205 | T | A | 1 | a0002c0002t0004 | 8 | NA18945.hp1 NA18946.hp1 NA18963.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2450T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2450 | chr6 | 147387205 | ||||||
chr6:147387271 | G | T | 1 | a0001c0001t0010 | 6 | HG00621.hp2 HG02165.hp1 NA18980.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*2516G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2516 | chr6 | 147387271 | ||||||
chr6:147387502 | A | C | 1 | a0001c0001t0042 | 1 | NA18988.hp1 | 3_prime_UTR_variant | MODIFIER | c.*2747A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2747 | chr6 | 147387502 | ||||||
chr6:147387592 | A | G | 14 | a0001c0001t0003 a0001c0001t0010 a0001c0001t0011 others(11): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
3_prime_UTR_variant | MODIFIER | c.*2837A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2837 | chr6 | 147387592 | ||||||
chr6:147387661 | A | G | 1 | a0002c0002t0035 | 1 | HG04184.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2906A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2906 | chr6 | 147387661 | ||||||
chr6:147387723 | C | T | 1 | a0001c0001t0024 | 1 | HG03516.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2968C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 2968 | chr6 | 147387723 | ||||||
chr6:147387766 | A | G | 2 | a0001c0001t0026 a0001c0001t0041 |
2 | HG00673.hp2 HG03834.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3011A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3011 | chr6 | 147387766 | ||||||
chr6:147387786 | A | AT | 5 | a0001c0001t0016 a0001c0001t0034 a0002c0002t0017 others(2): Show |
12 | HG01109.hp2 HG02572.hp1 HG02572.hp2 others(9): Show |
3_prime_UTR_variant | MODIFIER | c.*3044dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3045 | INFO_REALIGN_3_PRIME | chr6 | 147387786 | |||||
chr6:147388044 | A | C | 16 | a0001c0003t0002 a0001c0006t0002 a0002c0002t0002 others(13): Show |
133 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(130): Show |
3_prime_UTR_variant | MODIFIER | c.*3289A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3289 | chr6 | 147388044 | ||||||
chr6:147388301 | T | C | 1 | a0001c0001t0006 | 7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*3546T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3546 | chr6 | 147388301 | ||||||
chr6:147388310 | T | A | 1 | a0005c0010t0028 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3555T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3555 | chr6 | 147388310 | ||||||
chr6:147388731 | C | A | 1 | a0001c0001t0022 | 2 | NA18967.hp2 NA19064.hp2 |
3_prime_UTR_variant | MODIFIER | c.*3976C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3976 | chr6 | 147388731 | ||||||
chr6:147388745 | A | G | 9 | a0001c0001t0003 a0001c0001t0010 a0001c0001t0039 others(6): Show |
46 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*3990A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 3990 | chr6 | 147388745 | ||||||
chr6:147388809 | G | GAT | 2 | a0001c0007t0019 a0003c0005t0015 |
7 | HG01109.hp2 HG02451.hp1 HG02559.hp2 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*4069_*4070dupAT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4071 | INFO_REALIGN_3_PRIME | chr6 | 147388809 | |||||
chr6:147388809 | GAT | G | 3 | a0001c0001t0013 a0001c0001t0026 a0004c0013t0013 |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*4069_*4070delAT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4069 | INFO_REALIGN_3_PRIME | chr6 | 147388809 | |||||
chr6:147388917 | G | A | 1 | a0002c0002t0029 | 1 | HG03225.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4162G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4162 | chr6 | 147388917 | ||||||
chr6:147388988 | A | C | 1 | a0002c0002t0033 | 1 | NA19012.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4233A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4233 | chr6 | 147388988 | ||||||
chr6:147389132 | T | C | 1 | a0001c0001t0034 | 1 | NA21309.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4377T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4377 | chr6 | 147389132 | ||||||
chr6:147389274 | A | G | 3 | a0001c0001t0005 a0001c0001t0024 a0001c0001t0043 |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*4519A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4519 | chr6 | 147389274 | ||||||
chr6:147389305 | A | T | 1 | a0003c0005t0015 | 4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*4550A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4550 | chr6 | 147389305 | ||||||
chr6:147389357 | A | G | 1 | a0001c0004t0021 | 2 | HG02647.hp2 HG02922.hp2 |
3_prime_UTR_variant | MODIFIER | c.*4602A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4602 | chr6 | 147389357 | ||||||
chr6:147389432 | A | G | 3 | a0001c0001t0005 a0001c0001t0024 a0001c0001t0043 |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*4677A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4677 | chr6 | 147389432 | ||||||
chr6:147389437 | C | T | 1 | a0002c0002t0032 | 1 | NA18940.hp1 | 3_prime_UTR_variant | MODIFIER | c.*4682C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4682 | chr6 | 147389437 | ||||||
chr6:147389456 | G | A | 1 | a0002c0002t0014 | 4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*4701G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4701 | chr6 | 147389456 | ||||||
chr6:147389460 | A | G | 2 | a0001c0001t0012 a0001c0001t0038 |
6 | HG02559.hp1 HG03130.hp1 HG03209.hp2 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*4705A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4705 | chr6 | 147389460 | ||||||
chr6:147389608 | T | C | 1 | a0002c0002t0030 | 1 | HG03453.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4853T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 4853 | chr6 | 147389608 | ||||||
chr6:147389832 | C | CT | 4 | a0001c0001t0025 a0002c0002t0008 a0002c0002t0030 others(1): Show |
10 | HG01192.hp1 HG02109.hp1 HG02145.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*5088dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 5089 | INFO_REALIGN_3_PRIME | chr6 | 147389832 | |||||
chr6:147389927 | G | A | 1 | a0001c0001t0040 | 1 | NA19084.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5172G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 5172 | chr6 | 147389927 | ||||||
chr6:147390133 | A | G | 1 | a0002c0002t0031 | 1 | HG04199.hp2 | 3_prime_UTR_variant | MODIFIER | c.*5378A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 5378 | chr6 | 147390133 | ||||||
chr6:147390218 | A | T | 1 | a0005c0010t0028 | 1 | HG00738.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5463A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 5463 | chr6 | 147390218 | ||||||
chr6:147390228 | A | C | 1 | a0001c0001t0025 | 1 | HG01192.hp1 | 3_prime_UTR_variant | MODIFIER | c.*5473A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 28/28 | 5473 | chr6 | 147390228 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr6:147204710 | C | T | 1 | a0002c0002t0001g0350 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.150+28C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147204710 | |||||||
chr6:147204840 | C | A | 1 | a0001c0001t0001g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.150+158C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147204840 | |||||||
chr6:147204873 | C | T | 1 | a0002c0002t0033g0349 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.150+191C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147204873 | |||||||
chr6:147205020 | C | G | 2 | a0001c0008t0001g0347 a0001c0008t0001g0348 |
2 | HG01256.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.150+338C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205020 | |||||||
chr6:147205101 | T | C | 1 | a0001c0001t0003g0002 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.150+419T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205101 | |||||||
chr6:147205172 | TTA | T | 40 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(37): Show |
40 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(37): Show |
intron_variant | MODIFIER | c.150+492_150+493del others(2): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205172 | ||||||
chr6:147205371 | C | CAT | 27 | a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0338 others(24): Show |
27 | HG01081.hp2 HG01515.hp1 HG01891.hp2 others(24): Show |
intron_variant | MODIFIER | c.151-574_151-573dup others(2): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | C | CATAT | 11 | a0001c0001t0003g0344 a0001c0001t0003g0345 a0001c0001t0006g0166 others(8): Show |
11 | HG01496.hp2 HG01517.hp1 HG01943.hp2 others(8): Show |
intron_variant | MODIFIER | c.151-576_151-573dup others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | C | CATATAT | 6 | a0001c0001t0001g0170 a0001c0001t0012g0346 a0001c0004t0007g0172 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02970.hp2 others(3): Show |
intron_variant | MODIFIER | c.151-578_151-573dup others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | C | CATATATA others(1): Show |
9 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0026g0176 others(6): Show |
9 | HG01109.hp2 HG02647.hp1 HG02647.hp2 others(6): Show |
intron_variant | MODIFIER | c.151-580_151-573dup others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | C | CATATATA others(3): Show |
1 | a0001c0001t0013g0184 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.151-582_151-573dup others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | C | CATATATA others(5): Show |
1 | a0004c0013t0013g0185 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.151-584_151-573dup others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | CAT | C | 35 | a0001c0001t0001g0029 a0001c0001t0001g0305 a0001c0001t0001g0306 others(32): Show |
35 | HG00140.hp1 HG00423.hp2 HG00642.hp1 others(32): Show |
intron_variant | MODIFIER | c.151-574_151-573del others(2): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | CATAT | C | 124 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0198 others(121): Show |
124 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(121): Show |
intron_variant | MODIFIER | c.151-576_151-573del others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205371 | CATATATA others(3): Show |
C | 1 | a0001c0001t0001g0197 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.151-582_151-573del others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr6 | 147205371 | ||||||
chr6:147205374 | A | G | 3 | a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0008t0001g0348 |
3 | HG01099.hp1 HG02273.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.151-597A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205374 | |||||||
chr6:147205376 | A | G | 108 | a0001c0001t0001g0001 a0001c0001t0001g0198 a0001c0001t0001g0199 others(105): Show |
108 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
intron_variant | MODIFIER | c.151-595A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205376 | |||||||
chr6:147205382 | A | G | 1 | a0001c0001t0001g0197 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.151-589A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205382 | |||||||
chr6:147205388 | A | G | 5 | a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 others(2): Show |
5 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.151-583A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205388 | |||||||
chr6:147205399 | G | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.151-572G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205399 | |||||||
chr6:147205460 | C | G | 1 | a0001c0001t0034g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.151-511C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205460 | |||||||
chr6:147205493 | G | T | 1 | a0002c0002t0008g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.151-478G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205493 | |||||||
chr6:147205797 | A | G | 9 | a0001c0001t0036g0169 a0001c0003t0009g0186 a0001c0003t0009g0187 others(6): Show |
9 | HG02717.hp2 HG02723.hp1 HG02886.hp1 others(6): Show |
intron_variant | MODIFIER | c.151-174A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 1/27 | chr6 | 147205797 | |||||||
chr6:147206119 | C | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.248+51C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206119 | |||||||
chr6:147206144 | A | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.248+76A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206144 | |||||||
chr6:147206232 | A | G | 2 | a0001c0004t0007g0016 a0001c0004t0007g0017 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.248+164A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206232 | |||||||
chr6:147206423 | A | G | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.248+355A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206423 | |||||||
chr6:147206524 | G | A | 7 | a0001c0001t0016g0046 a0001c0004t0021g0047 a0002c0002t0002g0003 others(4): Show |
7 | HG02055.hp1 HG02572.hp2 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.248+456G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206524 | |||||||
chr6:147206537 | ATT | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+470_248+471del others(2): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206537 | |||||||
chr6:147206837 | A | G | 1 | a0001c0001t0001g0303 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.248+769A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147206837 | |||||||
chr6:147206998 | G | GA | 73 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0197 others(70): Show |
73 | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.248+940dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147206998 | ||||||
chr6:147206998 | GA | G | 19 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(16): Show |
19 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(16): Show |
intron_variant | MODIFIER | c.248+940delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147206998 | ||||||
chr6:147207042 | C | CA | 5 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(2): Show |
5 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+982dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147207042 | ||||||
chr6:147207141 | A | C | 47 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(44): Show |
47 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(44): Show |
intron_variant | MODIFIER | c.248+1073A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147207141 | |||||||
chr6:147207365 | C | T | 1 | a0001c0001t0001g0303 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.248+1297C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147207365 | |||||||
chr6:147207435 | G | A | 20 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(17): Show |
20 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.248+1367G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147207435 | |||||||
chr6:147207454 | C | T | 2 | a0003c0005t0015g0179 a0003c0005t0015g0180 |
2 | HG01109.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.248+1386C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147207454 | |||||||
chr6:147207877 | A | G | 6 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.248+1809A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147207877 | |||||||
chr6:147208008 | A | T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.248+1940A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147208008 | |||||||
chr6:147208139 | G | GT | 6 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.248+2080dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147208139 | ||||||
chr6:147208256 | G | C | 1 | a0001c0001t0010g0312 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.248+2188G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147208256 | |||||||
chr6:147208587 | T | C | 1 | a0002c0002t0004g0061 | 1 | NA19005.hp1 | intron_variant | MODIFIER | c.248+2519T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147208587 | |||||||
chr6:147208775 | T | C | 7 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(4): Show |
7 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(4): Show |
intron_variant | MODIFIER | c.248+2707T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147208775 | |||||||
chr6:147208867 | T | A | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.248+2799T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147208867 | |||||||
chr6:147208948 | A | T | 1 | a0001c0001t0005g0044 | 1 | HG02970.hp1 | intron_variant | MODIFIER | c.248+2880A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147208948 | |||||||
chr6:147209090 | C | T | 2 | a0001c0001t0016g0046 a0001c0004t0021g0047 |
2 | HG02572.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.248+3022C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209090 | |||||||
chr6:147209095 | G | C | 1 | a0002c0002t0002g0062 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.248+3027G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209095 | |||||||
chr6:147209134 | A | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+3066A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209134 | |||||||
chr6:147209260 | C | T | 1 | a0001c0004t0007g0015 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.248+3192C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209260 | |||||||
chr6:147209267 | C | A | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.248+3199C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209267 | |||||||
chr6:147209268 | A | G | 1 | a0002c0002t0002g0140 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.248+3200A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209268 | |||||||
chr6:147209429 | A | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.248+3361A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209429 | |||||||
chr6:147209706 | A | G | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.248+3638A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209706 | |||||||
chr6:147209722 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+3654G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209722 | |||||||
chr6:147209788 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.248+3720A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209788 | |||||||
chr6:147209945 | G | T | 257 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(254): Show |
257 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(254): Show |
intron_variant | MODIFIER | c.248+3877G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209945 | |||||||
chr6:147209955 | C | T | 6 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.248+3887C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209955 | |||||||
chr6:147209996 | T | C | 1 | a0001c0001t0001g0198 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.248+3928T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147209996 | |||||||
chr6:147210375 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.248+4307T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210375 | |||||||
chr6:147210378 | T | C | 1 | a0001c0001t0003g0048 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.248+4310T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210378 | |||||||
chr6:147210426 | A | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.248+4358A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210426 | |||||||
chr6:147210571 | A | T | 2 | a0002c0002t0002g0130 a0002c0002t0002g0131 |
2 | HG00099.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.248+4503A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210571 | |||||||
chr6:147210650 | G | C | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.248+4582G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210650 | |||||||
chr6:147210774 | C | T | 3 | a0001c0001t0016g0046 a0001c0004t0021g0047 a0002c0002t0029g0045 |
3 | HG02572.hp2 HG02922.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.248+4706C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210774 | |||||||
chr6:147210819 | CATT | C | 5 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(2): Show |
5 | NA18612.hp1 NA18968.hp2 NA18985.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+4760_248+4762d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147210819 | ||||||
chr6:147210880 | A | G | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.248+4812A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147210880 | |||||||
chr6:147211051 | G | A | 1 | a0001c0001t0001g0204 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.248+4983G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211051 | |||||||
chr6:147211308 | C | CA | 30 | a0001c0001t0001g0029 a0001c0001t0001g0205 a0001c0001t0001g0249 others(27): Show |
30 | HG00140.hp1 HG00544.hp2 HG00621.hp1 others(27): Show |
intron_variant | MODIFIER | c.248+5258dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147211308 | ||||||
chr6:147211308 | CA | C | 18 | a0001c0001t0003g0332 a0001c0001t0010g0333 a0001c0001t0013g0177 others(15): Show |
18 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(15): Show |
intron_variant | MODIFIER | c.248+5258delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147211308 | ||||||
chr6:147211323 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.248+5255A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211323 | |||||||
chr6:147211328 | G | C | 1 | a0002c0002t0002g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.248+5260G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211328 | |||||||
chr6:147211363 | C | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.248+5295C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211363 | |||||||
chr6:147211400 | C | T | 77 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(74): Show |
77 | HG00423.hp2 HG00639.hp2 HG00735.hp1 others(74): Show |
intron_variant | MODIFIER | c.248+5332C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211400 | |||||||
chr6:147211449 | C | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.248+5381C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211449 | |||||||
chr6:147211510 | C | T | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG00280.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.248+5442C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211510 | |||||||
chr6:147211752 | T | A | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.248+5684T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211752 | |||||||
chr6:147211997 | C | T | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.248+5929C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147211997 | |||||||
chr6:147212266 | G | A | 1 | a0001c0001t0001g0251 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.248+6198G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212266 | |||||||
chr6:147212438 | T | G | 3 | a0002c0002t0002g0032 a0002c0002t0014g0156 a0002c0002t0014g0157 |
3 | HG01891.hp2 HG02630.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.248+6370T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212438 | |||||||
chr6:147212544 | A | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.248+6476A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212544 | |||||||
chr6:147212685 | A | G | 1 | a0002c0002t0002g0128 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.248+6617A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212685 | |||||||
chr6:147212729 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+6661C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212729 | |||||||
chr6:147212810 | T | A | 8 | a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0167 others(5): Show |
8 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.248+6742T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212810 | |||||||
chr6:147212991 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.248+6923C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147212991 | |||||||
chr6:147213190 | A | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.248+7122A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213190 | |||||||
chr6:147213263 | T | C | 8 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(5): Show |
8 | NA18941.hp2 NA18953.hp1 NA18962.hp2 others(5): Show |
intron_variant | MODIFIER | c.248+7195T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213263 | |||||||
chr6:147213271 | C | CT | 7 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(4): Show |
7 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.248+7215dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213271 | ||||||
chr6:147213350 | C | A | 1 | a0002c0002t0002g0078 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.248+7282C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213350 | |||||||
chr6:147213370 | C | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.248+7302C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213370 | |||||||
chr6:147213417 | C | G | 1 | a0001c0001t0012g0346 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.248+7349C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213417 | |||||||
chr6:147213428 | TTA | T | 3 | a0001c0001t0001g0301 a0001c0001t0001g0302 a0002c0002t0008g0311 |
3 | HG02109.hp1 NA18988.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.248+7366_248+7367d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213428 | ||||||
chr6:147213430 | ATATATGT others(1): Show |
A | 4 | a0001c0001t0018g0335 a0001c0001t0018g0336 a0001c0001t0036g0169 others(1): Show |
4 | HG03130.hp2 HG03516.hp1 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.248+7364_248+7371d others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213430 | ||||||
chr6:147213430 | ATATATGT others(5): Show |
A | 1 | a0001c0001t0018g0334 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.248+7364_248+7375d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213430 | ||||||
chr6:147213432 | ATATG | A | 13 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0250 others(10): Show |
13 | HG00140.hp2 HG00323.hp1 HG00621.hp1 others(10): Show |
intron_variant | MODIFIER | c.248+7366_248+7369d others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213432 | ATATGTG | A | 59 | a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 others(56): Show |
59 | HG00280.hp2 HG00423.hp1 HG00673.hp2 others(56): Show |
intron_variant | MODIFIER | c.248+7366_248+7371d others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213432 | ATATGTGT others(1): Show |
A | 28 | a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0264 others(25): Show |
28 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(25): Show |
intron_variant | MODIFIER | c.248+7366_248+7373d others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213432 | ATATGTGT others(3): Show |
A | 18 | a0001c0001t0001g0054 a0001c0001t0001g0205 a0001c0001t0001g0241 others(15): Show |
18 | HG00438.hp2 HG00558.hp1 HG01943.hp1 others(15): Show |
intron_variant | MODIFIER | c.248+7366_248+7375d others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213432 | ATATGTGT others(5): Show |
A | 43 | a0001c0001t0001g0001 a0001c0001t0001g0197 a0001c0001t0001g0198 others(40): Show |
43 | HG00099.hp1 HG00544.hp1 HG00558.hp2 others(40): Show |
intron_variant | MODIFIER | c.248+7366_248+7377d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213432 | ATATGTGT others(7): Show |
A | 4 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(1): Show |
4 | HG00735.hp2 HG01358.hp1 HG02148.hp2 others(1): Show |
intron_variant | MODIFIER | c.248+7366_248+7379d others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213432 | ATATGTGT others(11): Show |
A | 1 | a0001c0001t0003g0320 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.248+7366_248+7383d others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213432 | ||||||
chr6:147213434 | A | ATATATGT others(11): Show |
1 | a0002c0002t0008g0181 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.248+7367_248+7368i others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | A | ATATATGT others(13): Show |
2 | a0001c0004t0007g0172 a0002c0002t0008g0173 |
2 | HG02258.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.248+7367_248+7368i others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | A | ATATATGT others(27): Show |
1 | a0002c0002t0008g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.248+7367_248+7368i others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | A | ATG | 31 | a0001c0001t0006g0116 a0001c0004t0007g0013 a0001c0004t0007g0014 others(28): Show |
31 | HG00642.hp1 HG00738.hp2 HG00741.hp1 others(28): Show |
intron_variant | MODIFIER | c.248+7409_248+7410d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | A | ATGTG | 21 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0152 others(18): Show |
21 | HG00140.hp1 HG01255.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.248+7407_248+7410d others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | A | ATGTGTG | 6 | a0001c0001t0006g0153 a0002c0002t0002g0031 a0002c0002t0002g0067 others(3): Show |
6 | HG02083.hp2 HG02602.hp2 HG03834.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+7405_248+7410d others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | A | G | 20 | a0001c0001t0001g0170 a0001c0001t0005g0038 a0001c0001t0005g0040 others(17): Show |
20 | HG01993.hp2 HG02055.hp2 HG02486.hp2 others(17): Show |
intron_variant | MODIFIER | c.248+7366A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213434 | |||||||
chr6:147213434 | ATG | A | 15 | a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 others(12): Show |
15 | HG01261.hp1 HG01891.hp1 HG01993.hp1 others(12): Show |
intron_variant | MODIFIER | c.248+7409_248+7410d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | ATGTGTGT others(5): Show |
A | 8 | a0002c0002t0002g0027 a0002c0002t0002g0065 a0002c0002t0002g0092 others(5): Show |
8 | HG00423.hp2 NA18960.hp1 NA18982.hp1 others(5): Show |
intron_variant | MODIFIER | c.248+7399_248+7410d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213434 | ATGTGTGT others(7): Show |
A | 2 | a0002c0002t0002g0101 a0002c0002t0002g0106 |
2 | HG02129.hp1 NA19075.hp1 |
intron_variant | MODIFIER | c.248+7397_248+7410d others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213434 | ||||||
chr6:147213436 | G | A | 12 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(9): Show |
12 | HG01109.hp2 HG01192.hp2 HG02717.hp2 others(9): Show |
intron_variant | MODIFIER | c.248+7368G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213436 | |||||||
chr6:147213469 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.248+7401T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213469 | |||||||
chr6:147213471 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.248+7403T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213471 | |||||||
chr6:147213473 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.248+7405T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213473 | |||||||
chr6:147213475 | T | C | 9 | a0001c0001t0001g0209 a0001c0001t0005g0038 a0001c0001t0005g0040 others(6): Show |
9 | HG01496.hp1 HG02572.hp1 HG02723.hp2 others(6): Show |
intron_variant | MODIFIER | c.248+7407T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213475 | |||||||
chr6:147213476 | G | GTGTGTGT others(18): Show |
1 | a0001c0001t0013g0184 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(27): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213476 | ||||||
chr6:147213477 | T | C | 128 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0170 others(125): Show |
128 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(125): Show |
intron_variant | MODIFIER | c.248+7409T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213477 | |||||||
chr6:147213477 | T | TGC | 7 | a0001c0003t0002g0008 a0001c0004t0021g0175 a0002c0002t0002g0075 others(4): Show |
7 | HG00642.hp2 HG02486.hp2 HG02647.hp2 others(4): Show |
intron_variant | MODIFIER | c.248+7416_248+7417d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGCGC | 3 | a0001c0001t0005g0042 a0001c0001t0005g0043 a0002c0002t0008g0181 |
3 | HG02895.hp2 HG02896.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.248+7414_248+7417d others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGC | 4 | a0001c0003t0002g0009 a0001c0003t0002g0010 a0002c0002t0002g0154 others(1): Show |
4 | HG01993.hp2 HG02004.hp1 HG02293.hp1 others(1): Show |
intron_variant | MODIFIER | c.248+7410_248+7411i others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGCGC | 3 | a0001c0006t0002g0005 a0001c0006t0002g0006 a0001c0006t0002g0007 |
3 | HG02896.hp1 HG02897.hp1 NA19240.hp2 |
intron_variant | MODIFIER | c.248+7410_248+7411i others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGCGCG others(3): Show |
1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.248+7410_248+7411i others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGCGCG others(9): Show |
1 | a0002c0002t0014g0019 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.248+7410_248+7411i others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGCG others(5): Show |
1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGCG others(9): Show |
2 | a0001c0001t0012g0034 a0002c0002t0014g0020 |
2 | HG03579.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.248+7410_248+7411i others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGCG others(11): Show |
1 | a0001c0001t0012g0035 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(23): Show |
1 | a0004c0013t0013g0185 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(32): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(3): Show |
3 | a0001c0001t0016g0046 a0002c0002t0029g0045 a0002c0002t0030g0023 |
3 | HG02572.hp2 HG03225.hp2 HG03453.hp2 |
intron_variant | MODIFIER | c.248+7410_248+7411i others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(11): Show |
2 | a0001c0003t0009g0187 a0001c0003t0009g0188 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.248+7410_248+7411i others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(9): Show |
1 | a0001c0001t0026g0176 | 1 | HG03834.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(11): Show |
1 | a0001c0003t0009g0189 | 1 | HG02976.hp1 | intron_variant | MODIFIER | c.248+7410_248+7411i others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(11): Show |
1 | a0001c0001t0013g0177 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(9): Show |
1 | a0001c0004t0021g0047 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(13): Show |
1 | a0001c0001t0013g0178 | 1 | HG04228.hp1 | intron_variant | MODIFIER | c.248+7410_248+7411i others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(15): Show |
3 | a0001c0003t0009g0186 a0001c0003t0009g0190 a0001c0003t0009g0191 |
3 | HG02717.hp2 HG02723.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.248+7410_248+7411i others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(13): Show |
2 | a0003c0005t0015g0179 a0003c0005t0015g0182 |
2 | HG02647.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.248+7410_248+7411i others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(17): Show |
1 | a0002c0002t0008g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(26): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(17): Show |
1 | a0003c0005t0015g0183 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.248+7410_248+7411i others(26): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(19): Show |
1 | a0002c0002t0008g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(28): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213477 | T | TGTGTGTG others(25): Show |
1 | a0003c0005t0015g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.248+7410_248+7411i others(34): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147213477 | ||||||
chr6:147213479 | C | T | 1 | a0002c0002t0002g0126 | 1 | NA18941.hp1 | intron_variant | MODIFIER | c.248+7411C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213479 | |||||||
chr6:147213483 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.248+7415C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213483 | |||||||
chr6:147213602 | G | T | 2 | a0001c0001t0001g0012 a0001c0001t0001g0170 |
2 | HG02970.hp2 HG03098.hp1 |
intron_variant | MODIFIER | c.248+7534G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213602 | |||||||
chr6:147213615 | A | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.248+7547A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213615 | |||||||
chr6:147213727 | T | C | 4 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(1): Show |
4 | NA18612.hp1 NA18968.hp2 NA18985.hp1 others(1): Show |
intron_variant | MODIFIER | c.248+7659T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147213727 | |||||||
chr6:147214169 | G | A | 223 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(220): Show |
223 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(220): Show |
intron_variant | MODIFIER | c.248+8101G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147214169 | |||||||
chr6:147214179 | T | C | 1 | a0002c0002t0002g0167 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.248+8111T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147214179 | |||||||
chr6:147214482 | A | G | 5 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(2): Show |
5 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+8414A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147214482 | |||||||
chr6:147214617 | A | G | 1 | a0002c0002t0002g0074 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.248+8549A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147214617 | |||||||
chr6:147214703 | T | C | 5 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(2): Show |
5 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+8635T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147214703 | |||||||
chr6:147214816 | C | T | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.248+8748C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147214816 | |||||||
chr6:147214862 | TA | T | 20 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(17): Show |
20 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.248+8796delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147214862 | ||||||
chr6:147214951 | CATAGGGT others(8): Show |
C | 1 | a0001c0001t0001g0300 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.248+8886_248+8900d others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147214951 | ||||||
chr6:147215044 | G | A | 1 | a0001c0001t0012g0034 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.248+8976G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215044 | |||||||
chr6:147215110 | T | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+9042T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215110 | |||||||
chr6:147215114 | A | G | 1 | a0003c0005t0015g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.248+9046A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215114 | |||||||
chr6:147215145 | G | A | 5 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(2): Show |
5 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+9077G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215145 | |||||||
chr6:147215235 | T | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.248+9167T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215235 | |||||||
chr6:147215440 | G | A | 36 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(33): Show |
36 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(33): Show |
intron_variant | MODIFIER | c.248+9372G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215440 | |||||||
chr6:147215612 | G | C | 1 | a0002c0002t0032g0080 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.248+9544G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215612 | |||||||
chr6:147215624 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+9556C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215624 | |||||||
chr6:147215841 | A | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.248+9773A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215841 | |||||||
chr6:147215933 | C | T | 1 | a0001c0001t0001g0238 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.248+9865C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147215933 | |||||||
chr6:147216119 | C | T | 7 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(4): Show |
7 | HG02055.hp2 HG02723.hp2 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.248+10051C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216119 | |||||||
chr6:147216134 | G | C | 1 | a0002c0002t0002g0240 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.248+10066G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216134 | |||||||
chr6:147216276 | C | T | 1 | a0001c0001t0003g0060 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.248+10208C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216276 | |||||||
chr6:147216326 | A | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+10258A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216326 | |||||||
chr6:147216432 | G | T | 2 | a0001c0001t0005g0040 a0001c0001t0005g0044 |
2 | HG02970.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.248+10364G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216432 | |||||||
chr6:147216518 | T | C | 3 | a0002c0002t0002g0032 a0002c0002t0014g0156 a0002c0002t0014g0157 |
3 | HG01891.hp2 HG02630.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.248+10450T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216518 | |||||||
chr6:147216644 | T | G | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.248+10576T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216644 | |||||||
chr6:147216745 | T | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.248+10677T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216745 | |||||||
chr6:147216822 | T | C | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.248+10754T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147216822 | |||||||
chr6:147217066 | C | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.248+10998C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217066 | |||||||
chr6:147217192 | T | C | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.248+11124T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217192 | |||||||
chr6:147217206 | T | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.248+11138T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217206 | |||||||
chr6:147217291 | T | G | 2 | a0002c0002t0002g0081 a0002c0002t0002g0082 |
2 | HG01255.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.248+11223T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217291 | |||||||
chr6:147217395 | T | C | 1 | a0002c0002t0002g0075 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.248+11327T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217395 | |||||||
chr6:147217509 | T | A | 3 | a0002c0002t0002g0032 a0002c0002t0014g0156 a0002c0002t0014g0157 |
3 | HG01891.hp2 HG02630.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.248+11441T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217509 | |||||||
chr6:147217547 | G | C | 1 | a0002c0002t0002g0083 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.248+11479G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217547 | |||||||
chr6:147217556 | A | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.248+11488A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217556 | |||||||
chr6:147217733 | T | C | 3 | a0002c0002t0002g0032 a0002c0002t0014g0156 a0002c0002t0014g0157 |
3 | HG01891.hp2 HG02630.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.248+11665T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217733 | |||||||
chr6:147217778 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.248+11710A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217778 | |||||||
chr6:147217800 | G | T | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.248+11732G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217800 | |||||||
chr6:147217865 | A | G | 2 | a0001c0001t0003g0339 a0001c0001t0003g0340 |
2 | NA19063.hp1 NA19075.hp2 |
intron_variant | MODIFIER | c.248+11797A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217865 | |||||||
chr6:147217914 | A | G | 1 | a0002c0002t0002g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.248+11846A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147217914 | |||||||
chr6:147218029 | A | G | 153 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(150): Show |
153 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(150): Show |
intron_variant | MODIFIER | c.248+11961A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218029 | |||||||
chr6:147218325 | T | C | 5 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(2): Show |
5 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+12257T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218325 | |||||||
chr6:147218354 | G | C | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.248+12286G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218354 | |||||||
chr6:147218483 | G | T | 1 | a0002c0002t0002g0121 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.248+12415G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218483 | |||||||
chr6:147218484 | T | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.248+12416T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218484 | |||||||
chr6:147218515 | C | G | 1 | a0001c0001t0003g0145 | 1 | NA19079.hp1 | intron_variant | MODIFIER | c.248+12447C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218515 | |||||||
chr6:147218534 | G | A | 1 | a0002c0002t0002g0210 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.248+12466G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218534 | |||||||
chr6:147218630 | A | G | 1 | a0002c0002t0002g0120 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.248+12562A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218630 | |||||||
chr6:147218640 | C | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.248+12572C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218640 | |||||||
chr6:147218716 | A | G | 6 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(3): Show |
6 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(3): Show |
intron_variant | MODIFIER | c.248+12648A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218716 | |||||||
chr6:147218762 | T | C | 1 | a0001c0001t0003g0057 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.248+12694T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218762 | |||||||
chr6:147218856 | T | C | 2 | a0001c0001t0003g0328 a0001c0001t0042g0321 |
2 | NA18988.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.248+12788T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218856 | |||||||
chr6:147218947 | T | C | 1 | a0001c0001t0001g0265 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.248+12879T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147218947 | |||||||
chr6:147219030 | T | G | 1 | a0002c0002t0002g0033 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.248+12962T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219030 | |||||||
chr6:147219121 | G | C | 1 | a0002c0002t0002g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.248+13053G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219121 | |||||||
chr6:147219126 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.248+13058C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219126 | |||||||
chr6:147219293 | C | A | 1 | a0001c0001t0039g0058 | 1 | NA18962.hp1 | intron_variant | MODIFIER | c.248+13225C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219293 | |||||||
chr6:147219330 | G | A | 2 | a0002c0002t0002g0164 a0002c0002t0002g0165 |
2 | HG01517.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.248+13262G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219330 | |||||||
chr6:147219333 | T | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.248+13265T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219333 | |||||||
chr6:147219372 | C | G | 1 | a0001c0001t0012g0346 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.248+13304C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219372 | |||||||
chr6:147219457 | G | A | 4 | a0002c0002t0002g0003 a0002c0002t0002g0163 a0002c0002t0014g0019 others(1): Show |
4 | HG02055.hp1 HG03041.hp1 HG03831.hp2 others(1): Show |
intron_variant | MODIFIER | c.248+13389G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219457 | |||||||
chr6:147219799 | G | GT | 151 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0197 others(148): Show |
151 | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(148): Show |
intron_variant | MODIFIER | c.248+13752dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147219799 | ||||||
chr6:147219799 | G | GTT | 18 | a0001c0001t0001g0029 a0001c0001t0001g0208 a0001c0001t0001g0236 others(15): Show |
18 | HG00140.hp2 HG01071.hp1 HG01109.hp2 others(15): Show |
intron_variant | MODIFIER | c.248+13751_248+1375 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147219799 | ||||||
chr6:147219799 | GT | G | 18 | a0001c0001t0003g0339 a0001c0001t0005g0042 a0001c0001t0012g0034 others(15): Show |
18 | HG00738.hp2 HG01081.hp1 HG01081.hp2 others(15): Show |
intron_variant | MODIFIER | c.248+13752delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147219799 | ||||||
chr6:147219848 | T | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.248+13780T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219848 | |||||||
chr6:147219970 | G | A | 5 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(2): Show |
5 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(2): Show |
intron_variant | MODIFIER | c.248+13902G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147219970 | |||||||
chr6:147220227 | T | A | 1 | a0002c0002t0002g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.248+14159T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147220227 | |||||||
chr6:147220401 | A | G | 20 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(17): Show |
20 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(17): Show |
intron_variant | MODIFIER | c.248+14333A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147220401 | |||||||
chr6:147220492 | T | G | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.248+14424T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147220492 | |||||||
chr6:147220811 | T | C | 4 | a0002c0002t0002g0033 a0002c0002t0002g0137 a0002c0002t0002g0138 others(1): Show |
4 | HG01891.hp1 HG02109.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-14439T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147220811 | |||||||
chr6:147220954 | C | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-14296C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147220954 | |||||||
chr6:147221137 | T | A | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.249-14113T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147221137 | |||||||
chr6:147221208 | A | G | 1 | a0002c0002t0002g0113 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.249-14042A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147221208 | |||||||
chr6:147221328 | G | A | 346 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(343): Show |
346 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
intron_variant | MODIFIER | c.249-13922G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147221328 | |||||||
chr6:147221659 | G | GT | 7 | a0001c0001t0001g0292 a0001c0003t0009g0186 a0001c0003t0009g0187 others(4): Show |
7 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(4): Show |
intron_variant | MODIFIER | c.249-13584dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147221659 | ||||||
chr6:147221744 | C | CT | 13 | a0001c0001t0001g0247 a0001c0001t0012g0034 a0001c0001t0012g0035 others(10): Show |
13 | HG01884.hp1 HG02129.hp2 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.249-13495dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147221744 | ||||||
chr6:147222048 | C | T | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.249-13202C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222048 | |||||||
chr6:147222061 | TCTTTA | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-13185_249-1318 others(9): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147222061 | ||||||
chr6:147222161 | A | G | 1 | a0002c0002t0002g0139 | 1 | HG03834.hp1 | intron_variant | MODIFIER | c.249-13089A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222161 | |||||||
chr6:147222250 | C | T | 1 | a0002c0002t0002g0112 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.249-13000C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222250 | |||||||
chr6:147222544 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.249-12706G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222544 | |||||||
chr6:147222737 | C | T | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.249-12513C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222737 | |||||||
chr6:147222753 | A | G | 3 | a0001c0001t0003g0057 a0001c0001t0003g0059 a0001c0001t0039g0058 |
3 | HG02155.hp1 NA18949.hp1 NA18962.hp1 |
intron_variant | MODIFIER | c.249-12497A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222753 | |||||||
chr6:147222870 | A | G | 3 | a0001c0001t0016g0046 a0001c0004t0021g0047 a0002c0002t0029g0045 |
3 | HG02572.hp2 HG02922.hp2 HG03225.hp2 |
intron_variant | MODIFIER | c.249-12380A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147222870 | |||||||
chr6:147223233 | A | G | 1 | a0001c0001t0011g0331 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.249-12017A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223233 | |||||||
chr6:147223389 | A | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.249-11861A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223389 | |||||||
chr6:147223564 | T | C | 1 | a0001c0001t0010g0312 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.249-11686T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223564 | |||||||
chr6:147223643 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.249-11607A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223643 | |||||||
chr6:147223671 | A | T | 1 | a0002c0002t0035g0063 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.249-11579A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223671 | |||||||
chr6:147223673 | G | A | 1 | a0002c0002t0002g0167 | 1 | HG02083.hp2 | intron_variant | MODIFIER | c.249-11577G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223673 | |||||||
chr6:147223678 | G | A | 1 | a0001c0001t0001g0212 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.249-11572G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223678 | |||||||
chr6:147223925 | C | T | 1 | a0002c0002t0002g0165 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.249-11325C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223925 | |||||||
chr6:147223976 | G | A | 1 | a0002c0002t0002g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.249-11274G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223976 | |||||||
chr6:147223987 | GTT | G | 9 | a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 others(6): Show |
9 | HG02027.hp1 NA18950.hp2 NA18969.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-11262_249-1126 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147223987 | |||||||
chr6:147224029 | G | A | 1 | a0001c0001t0006g0166 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.249-11221G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224029 | |||||||
chr6:147224087 | A | G | 1 | a0001c0001t0001g0264 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.249-11163A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224087 | |||||||
chr6:147224154 | G | A | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.249-11096G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224154 | |||||||
chr6:147224321 | A | C | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-10929A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224321 | |||||||
chr6:147224661 | G | A | 2 | a0002c0002t0002g0137 a0002c0002t0002g0158 |
2 | HG01891.hp1 HG03225.hp1 |
intron_variant | MODIFIER | c.249-10589G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224661 | |||||||
chr6:147224693 | T | C | 1 | a0002c0002t0002g0085 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.249-10557T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224693 | |||||||
chr6:147224754 | G | A | 8 | a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0167 others(5): Show |
8 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.249-10496G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224754 | |||||||
chr6:147224757 | C | T | 1 | a0002c0002t0002g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.249-10493C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147224757 | |||||||
chr6:147225032 | T | C | 7 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.249-10218T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225032 | |||||||
chr6:147225125 | A | G | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.249-10125A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225125 | |||||||
chr6:147225207 | G | T | 2 | a0001c0001t0003g0021 a0001c0001t0003g0022 |
2 | NA18950.hp2 NA19065.hp1 |
intron_variant | MODIFIER | c.249-10043G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225207 | |||||||
chr6:147225264 | A | G | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-9986A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225264 | |||||||
chr6:147225272 | A | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.249-9978A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225272 | |||||||
chr6:147225350 | T | C | 1 | a0002c0002t0002g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.249-9900T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225350 | |||||||
chr6:147225375 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-9875G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225375 | |||||||
chr6:147225430 | C | T | 2 | a0001c0004t0007g0016 a0001c0004t0007g0017 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.249-9820C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225430 | |||||||
chr6:147225507 | T | A | 4 | a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 others(1): Show |
4 | NA18944.hp1 NA18983.hp1 NA19003.hp2 others(1): Show |
intron_variant | MODIFIER | c.249-9743T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225507 | |||||||
chr6:147225607 | C | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.249-9643C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225607 | |||||||
chr6:147225622 | G | A | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-9628G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225622 | |||||||
chr6:147225677 | G | A | 1 | a0002c0002t0002g0086 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.249-9573G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225677 | |||||||
chr6:147225813 | A | G | 1 | a0001c0001t0003g0320 | 1 | NA18990.hp1 | intron_variant | MODIFIER | c.249-9437A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147225813 | |||||||
chr6:147226035 | G | A | 1 | a0001c0008t0001g0348 | 1 | HG04184.hp1 | intron_variant | MODIFIER | c.249-9215G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147226035 | |||||||
chr6:147226041 | G | A | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.249-9209G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147226041 | |||||||
chr6:147226298 | C | A | 1 | a0003c0005t0015g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.249-8952C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147226298 | |||||||
chr6:147226298 | C | CA | 23 | a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0013g0177 others(20): Show |
23 | HG00323.hp2 HG00673.hp2 HG01192.hp2 others(20): Show |
intron_variant | MODIFIER | c.249-8937dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147226298 | ||||||
chr6:147226298 | CA | C | 11 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(8): Show |
11 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(8): Show |
intron_variant | MODIFIER | c.249-8937delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147226298 | ||||||
chr6:147226423 | A | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.249-8827A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147226423 | |||||||
chr6:147226861 | A | G | 1 | a0001c0001t0010g0312 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.249-8389A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147226861 | |||||||
chr6:147227003 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.249-8247A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227003 | |||||||
chr6:147227384 | C | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-7866C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227384 | |||||||
chr6:147227722 | C | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.249-7528C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227722 | |||||||
chr6:147227727 | T | C | 1 | a0001c0003t0002g0295 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.249-7523T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227727 | |||||||
chr6:147227805 | T | G | 6 | a0001c0001t0001g0269 a0001c0001t0013g0177 a0001c0001t0013g0178 others(3): Show |
6 | HG00323.hp2 HG01109.hp1 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.249-7445T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227805 | |||||||
chr6:147227900 | C | T | 11 | a0001c0001t0023g0018 a0001c0003t0009g0186 a0001c0003t0009g0187 others(8): Show |
11 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(8): Show |
intron_variant | MODIFIER | c.249-7350C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227900 | |||||||
chr6:147227908 | C | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-7342C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227908 | |||||||
chr6:147227913 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.249-7337A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147227913 | |||||||
chr6:147228090 | A | T | 7 | a0001c0004t0007g0172 a0002c0002t0008g0142 a0002c0002t0008g0143 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.249-7160A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228090 | |||||||
chr6:147228161 | A | G | 233 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(230): Show |
233 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(230): Show |
intron_variant | MODIFIER | c.249-7089A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228161 | |||||||
chr6:147228203 | G | T | 1 | a0002c0002t0002g0033 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.249-7047G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228203 | |||||||
chr6:147228229 | G | A | 11 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(8): Show |
11 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(8): Show |
intron_variant | MODIFIER | c.249-7021G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228229 | |||||||
chr6:147228234 | A | G | 1 | a0001c0001t0001g0265 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.249-7016A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228234 | |||||||
chr6:147228419 | A | G | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.249-6831A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228419 | |||||||
chr6:147228466 | G | T | 175 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(172): Show |
175 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(172): Show |
intron_variant | MODIFIER | c.249-6784G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228466 | |||||||
chr6:147228479 | G | A | 1 | a0001c0006t0002g0007 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.249-6771G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228479 | |||||||
chr6:147228511 | C | T | 1 | a0002c0002t0002g0151 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.249-6739C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228511 | |||||||
chr6:147228530 | C | T | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-6720C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228530 | |||||||
chr6:147228568 | T | C | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-6682T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228568 | |||||||
chr6:147228776 | T | C | 5 | a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 others(2): Show |
5 | NA18612.hp2 NA18940.hp1 NA18947.hp2 others(2): Show |
intron_variant | MODIFIER | c.249-6474T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228776 | |||||||
chr6:147228823 | T | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.249-6427T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147228823 | |||||||
chr6:147229133 | G | A | 3 | a0003c0005t0015g0179 a0003c0005t0015g0182 a0003c0005t0015g0183 |
3 | HG02647.hp1 HG02886.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.249-6117G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147229133 | |||||||
chr6:147229551 | G | GTACTTTG others(6094): Show |
1 | a0001c0001t0006g0116 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.249-5684_249-5683i others(6103): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147229551 | ||||||
chr6:147229576 | G | A | 2 | a0001c0004t0007g0013 a0001c0004t0007g0172 |
2 | HG02257.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.249-5674G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147229576 | |||||||
chr6:147229743 | A | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.249-5507A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147229743 | |||||||
chr6:147229834 | A | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-5416A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147229834 | |||||||
chr6:147229888 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-5362A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147229888 | |||||||
chr6:147229988 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-5262A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147229988 | |||||||
chr6:147230085 | G | C | 1 | a0001c0001t0001g0214 | 1 | NA18946.hp2 | intron_variant | MODIFIER | c.249-5165G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230085 | |||||||
chr6:147230109 | G | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-5141G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230109 | |||||||
chr6:147230175 | A | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-5075A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230175 | |||||||
chr6:147230245 | T | C | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.249-5005T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230245 | |||||||
chr6:147230406 | A | G | 1 | a0001c0001t0001g0264 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.249-4844A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230406 | |||||||
chr6:147230505 | G | C | 1 | a0001c0001t0001g0199 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.249-4745G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230505 | |||||||
chr6:147230566 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.249-4684A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230566 | |||||||
chr6:147230661 | G | C | 1 | a0001c0001t0034g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.249-4589G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230661 | |||||||
chr6:147230850 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.249-4400C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147230850 | |||||||
chr6:147230941 | CTGGTGAT others(5): Show |
C | 5 | a0001c0001t0011g0263 a0001c0001t0018g0334 a0001c0001t0018g0335 others(2): Show |
5 | HG01081.hp2 HG02809.hp2 HG03130.hp2 others(2): Show |
intron_variant | MODIFIER | c.249-4288_249-4277d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147230941 | ||||||
chr6:147231057 | C | T | 1 | a0002c0002t0002g0032 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.249-4193C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231057 | |||||||
chr6:147231308 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.249-3942A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231308 | |||||||
chr6:147231319 | C | G | 1 | a0001c0001t0012g0346 | 1 | NA19030.hp1 | intron_variant | MODIFIER | c.249-3931C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231319 | |||||||
chr6:147231365 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-3885A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231365 | |||||||
chr6:147231448 | A | G | 1 | a0003c0005t0015g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.249-3802A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231448 | |||||||
chr6:147231512 | T | A | 1 | a0001c0001t0010g0312 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.249-3738T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231512 | |||||||
chr6:147231569 | A | T | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.249-3681A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231569 | |||||||
chr6:147231570 | G | A | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.249-3680G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231570 | |||||||
chr6:147231576 | A | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-3674A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231576 | |||||||
chr6:147231715 | T | C | 1 | a0002c0002t0001g0350 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.249-3535T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231715 | |||||||
chr6:147231734 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-3516C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147231734 | |||||||
chr6:147232129 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-3121A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232129 | |||||||
chr6:147232394 | T | A | 1 | a0002c0002t0002g0091 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.249-2856T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232394 | |||||||
chr6:147232423 | A | G | 1 | a0001c0001t0010g0327 | 1 | NA19060.hp1 | intron_variant | MODIFIER | c.249-2827A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232423 | |||||||
chr6:147232478 | A | G | 3 | a0001c0001t0003g0315 a0001c0001t0040g0313 a0007c0009t0003g0319 |
3 | HG00544.hp2 NA18960.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.249-2772A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232478 | |||||||
chr6:147232552 | A | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-2698A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232552 | |||||||
chr6:147232696 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.249-2554A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232696 | |||||||
chr6:147232849 | T | C | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.249-2401T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232849 | |||||||
chr6:147232874 | C | T | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.249-2376C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232874 | |||||||
chr6:147232908 | A | G | 1 | a0002c0002t0032g0080 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.249-2342A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232908 | |||||||
chr6:147232938 | T | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-2312T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232938 | |||||||
chr6:147232969 | A | G | 1 | a0001c0001t0038g0337 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.249-2281A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147232969 | |||||||
chr6:147233071 | C | G | 9 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(6): Show |
9 | NA18941.hp2 NA18953.hp1 NA18962.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-2179C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233071 | |||||||
chr6:147233073 | A | G | 1 | a0001c0001t0040g0313 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.249-2177A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233073 | |||||||
chr6:147233090 | T | A | 249 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(246): Show |
249 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(246): Show |
intron_variant | MODIFIER | c.249-2160T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233090 | |||||||
chr6:147233178 | G | A | 2 | a0002c0002t0002g0148 a0002c0002t0002g0149 |
2 | HG01934.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.249-2072G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233178 | |||||||
chr6:147233245 | A | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.249-2005A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233245 | |||||||
chr6:147233385 | C | CT | 4 | a0001c0001t0012g0034 a0001c0001t0012g0035 a0002c0002t0014g0019 others(1): Show |
4 | HG02055.hp1 HG03540.hp2 HG03579.hp1 others(1): Show |
intron_variant | MODIFIER | c.249-1864dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147233385 | ||||||
chr6:147233448 | C | A | 1 | a0002c0002t0004g0093 | 1 | NA19090.hp2 | intron_variant | MODIFIER | c.249-1802C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233448 | |||||||
chr6:147233460 | T | C | 2 | a0001c0008t0001g0347 a0001c0008t0001g0348 |
2 | HG01256.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.249-1790T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233460 | |||||||
chr6:147233540 | G | T | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.249-1710G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233540 | |||||||
chr6:147233734 | C | G | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.249-1516C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233734 | |||||||
chr6:147233764 | A | G | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.249-1486A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233764 | |||||||
chr6:147233780 | C | A | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.249-1470C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233780 | |||||||
chr6:147233864 | CTACTACT others(8): Show |
C | 1 | a0002c0002t0002g0094 | 1 | HG03491.hp2 | intron_variant | MODIFIER | c.249-1362_249-1348d others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147233864 | ||||||
chr6:147233944 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.249-1306A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147233944 | |||||||
chr6:147234142 | C | T | 2 | a0002c0002t0002g0164 a0002c0002t0002g0165 |
2 | HG01517.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.249-1108C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147234142 | |||||||
chr6:147234284 | A | G | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-966A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147234284 | |||||||
chr6:147234363 | G | GT | 11 | a0001c0001t0001g0235 a0001c0001t0005g0038 a0001c0001t0005g0040 others(8): Show |
11 | HG01978.hp1 HG02055.hp2 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.249-878dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr6 | 147234363 | ||||||
chr6:147234462 | G | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-788G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147234462 | |||||||
chr6:147234685 | A | G | 1 | a0001c0001t0001g0290 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.249-565A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147234685 | |||||||
chr6:147234715 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.249-535A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147234715 | |||||||
chr6:147234859 | T | C | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.249-391T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147234859 | |||||||
chr6:147235070 | G | A | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.249-180G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 2/27 | chr6 | 147235070 | |||||||
chr6:147235449 | A | G | 3 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0026g0176 |
3 | HG03834.hp2 HG03927.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.330+118A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147235449 | |||||||
chr6:147235639 | T | A | 2 | a0002c0002t0002g0130 a0002c0002t0002g0131 |
2 | HG00099.hp2 HG03017.hp2 |
intron_variant | MODIFIER | c.330+308T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147235639 | |||||||
chr6:147235677 | G | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.330+346G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147235677 | |||||||
chr6:147235770 | A | G | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.330+439A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147235770 | |||||||
chr6:147235824 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.330+493T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147235824 | |||||||
chr6:147236211 | A | G | 4 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(1): Show |
4 | HG02451.hp2 HG02809.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.330+880A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236211 | |||||||
chr6:147236273 | C | T | 1 | a0002c0002t0002g0082 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.330+942C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236273 | |||||||
chr6:147236314 | T | A | 46 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(43): Show |
46 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.330+983T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236314 | |||||||
chr6:147236320 | T | A | 1 | a0002c0002t0002g0024 | 1 | NA19077.hp2 | intron_variant | MODIFIER | c.330+989T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236320 | |||||||
chr6:147236404 | C | T | 1 | a0002c0002t0008g0142 | 1 | NA21309.hp2 | intron_variant | MODIFIER | c.330+1073C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236404 | |||||||
chr6:147236542 | A | G | 3 | a0001c0001t0003g0315 a0001c0001t0040g0313 a0007c0009t0003g0319 |
3 | HG00544.hp2 NA18960.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.330+1211A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236542 | |||||||
chr6:147236551 | A | G | 1 | a0001c0001t0040g0313 | 1 | NA19084.hp1 | intron_variant | MODIFIER | c.330+1220A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236551 | |||||||
chr6:147236556 | C | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.330+1225C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236556 | |||||||
chr6:147236597 | G | GTGTT | 199 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(196): Show |
199 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(196): Show |
intron_variant | MODIFIER | c.330+1269_330+1270i others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr6 | 147236597 | ||||||
chr6:147236717 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.330+1386A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236717 | |||||||
chr6:147236757 | G | C | 2 | a0001c0001t0001g0211 a0001c0001t0001g0270 |
2 | HG04204.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.330+1426G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236757 | |||||||
chr6:147236778 | C | CT | 25 | a0001c0001t0001g0289 a0001c0001t0003g0320 a0001c0001t0003g0325 others(22): Show |
25 | HG00438.hp1 HG01081.hp2 HG01123.hp2 others(22): Show |
intron_variant | MODIFIER | c.330+1465dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr6 | 147236778 | ||||||
chr6:147236778 | CT | C | 12 | a0001c0001t0001g0212 a0001c0001t0001g0241 a0001c0001t0001g0249 others(9): Show |
12 | HG00099.hp1 HG01109.hp2 HG01256.hp2 others(9): Show |
intron_variant | MODIFIER | c.330+1465delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | INFO_REALIGN_3_PRIME | chr6 | 147236778 | ||||||
chr6:147236804 | A | G | 1 | a0001c0001t0003g0202 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.330+1473A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236804 | |||||||
chr6:147236839 | C | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.330+1508C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236839 | |||||||
chr6:147236857 | C | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.330+1526C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236857 | |||||||
chr6:147236897 | A | G | 200 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(197): Show |
200 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(197): Show |
intron_variant | MODIFIER | c.330+1566A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236897 | |||||||
chr6:147236927 | T | C | 1 | a0001c0004t0007g0016 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.330+1596T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236927 | |||||||
chr6:147236947 | T | C | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.330+1616T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147236947 | |||||||
chr6:147237011 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.330+1680C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237011 | |||||||
chr6:147237132 | A | G | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.330+1801A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237132 | |||||||
chr6:147237256 | G | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.331-1914G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237256 | |||||||
chr6:147237393 | GT | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.331-1776delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237393 | |||||||
chr6:147237464 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.331-1706T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237464 | |||||||
chr6:147237584 | T | C | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.331-1586T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237584 | |||||||
chr6:147237631 | T | G | 9 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(6): Show |
9 | NA18941.hp2 NA18953.hp1 NA18962.hp2 others(6): Show |
intron_variant | MODIFIER | c.331-1539T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237631 | |||||||
chr6:147237740 | A | G | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.331-1430A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237740 | |||||||
chr6:147237859 | A | G | 3 | a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 |
3 | HG00738.hp2 HG01081.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.331-1311A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147237859 | |||||||
chr6:147238108 | G | A | 1 | a0001c0001t0001g0265 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.331-1062G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238108 | |||||||
chr6:147238280 | C | T | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.331-890C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238280 | |||||||
chr6:147238330 | A | G | 4 | a0002c0002t0002g0033 a0002c0002t0002g0137 a0002c0002t0002g0138 others(1): Show |
4 | HG01891.hp1 HG02109.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.331-840A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238330 | |||||||
chr6:147238354 | G | C | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.331-816G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238354 | |||||||
chr6:147238911 | T | C | 2 | a0002c0002t0002g0094 a0002c0002t0002g0096 |
2 | HG00741.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.331-259T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238911 | |||||||
chr6:147238984 | C | T | 10 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(7): Show |
10 | HG02451.hp2 HG02559.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.331-186C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238984 | |||||||
chr6:147238993 | C | A | 14 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(11): Show |
14 | HG01081.hp2 HG02451.hp2 HG02559.hp1 others(11): Show |
intron_variant | MODIFIER | c.331-177C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147238993 | |||||||
chr6:147239127 | T | G | 1 | a0002c0002t0002g0127 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.331-43T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 3/27 | chr6 | 147239127 | |||||||
chr6:147239463 | A | G | 1 | a0003c0005t0015g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.431+193A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147239463 | |||||||
chr6:147239694 | T | G | 1 | a0002c0002t0002g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.431+424T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147239694 | |||||||
chr6:147239759 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.431+489G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147239759 | |||||||
chr6:147239919 | A | G | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.431+649A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147239919 | |||||||
chr6:147240077 | G | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.431+807G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147240077 | |||||||
chr6:147240162 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.431+892G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147240162 | |||||||
chr6:147240166 | T | C | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.431+896T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147240166 | |||||||
chr6:147240691 | A | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.431+1421A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147240691 | |||||||
chr6:147240778 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.431+1508A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147240778 | |||||||
chr6:147241201 | A | G | 1 | a0001c0001t0001g0288 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.431+1931A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241201 | |||||||
chr6:147241276 | G | A | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.431+2006G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241276 | |||||||
chr6:147241277 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.431+2007A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241277 | |||||||
chr6:147241336 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.431+2066T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241336 | |||||||
chr6:147241661 | A | G | 1 | a0003c0005t0015g0179 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.431+2391A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241661 | |||||||
chr6:147241707 | T | TTA | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.431+2440_431+2441d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147241707 | ||||||
chr6:147241731 | A | G | 1 | a0002c0002t0002g0112 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.431+2461A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241731 | |||||||
chr6:147241745 | G | A | 1 | a0001c0001t0001g0215 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.431+2475G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241745 | |||||||
chr6:147241749 | G | A | 2 | a0001c0001t0005g0042 a0001c0001t0005g0043 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.431+2479G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241749 | |||||||
chr6:147241832 | T | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.431+2562T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147241832 | |||||||
chr6:147242171 | T | A | 4 | a0001c0003t0002g0009 a0001c0006t0002g0004 a0001c0006t0002g0005 others(1): Show |
4 | HG02896.hp1 HG03540.hp1 NA18522.hp1 others(1): Show |
intron_variant | MODIFIER | c.431+2901T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242171 | |||||||
chr6:147242171 | TA | T | 15 | a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0245 others(12): Show |
15 | HG00323.hp1 HG01175.hp1 HG01943.hp1 others(12): Show |
intron_variant | MODIFIER | c.431+2916delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147242171 | ||||||
chr6:147242339 | C | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+3069C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242339 | |||||||
chr6:147242422 | A | G | 3 | a0002c0002t0017g0066 a0002c0002t0017g0079 a0002c0002t0017g0125 |
3 | NA18967.hp1 NA18974.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.431+3152A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242422 | |||||||
chr6:147242566 | C | T | 1 | a0001c0001t0001g0268 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.431+3296C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242566 | |||||||
chr6:147242708 | A | G | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.431+3438A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242708 | |||||||
chr6:147242728 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.431+3458A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242728 | |||||||
chr6:147242730 | T | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+3460T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147242730 | |||||||
chr6:147243252 | G | A | 41 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(38): Show |
41 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(38): Show |
intron_variant | MODIFIER | c.431+3982G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147243252 | |||||||
chr6:147243322 | C | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.431+4052C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147243322 | |||||||
chr6:147243323 | G | A | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.431+4053G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147243323 | |||||||
chr6:147243741 | G | C | 2 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.431+4471G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147243741 | |||||||
chr6:147243837 | A | C | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.431+4567A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147243837 | |||||||
chr6:147243897 | A | G | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.431+4627A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147243897 | |||||||
chr6:147244099 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+4829A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244099 | |||||||
chr6:147244222 | T | C | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.431+4952T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244222 | |||||||
chr6:147244259 | A | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.431+4989A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244259 | |||||||
chr6:147244272 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.431+5002A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244272 | |||||||
chr6:147244328 | G | A | 3 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 |
3 | HG01993.hp2 HG02486.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.431+5058G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244328 | |||||||
chr6:147244586 | T | G | 1 | a0002c0002t0002g0151 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.431+5316T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244586 | |||||||
chr6:147244660 | T | C | 2 | a0002c0002t0002g0081 a0002c0002t0002g0082 |
2 | HG01255.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.431+5390T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244660 | |||||||
chr6:147244732 | A | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+5462A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147244732 | |||||||
chr6:147244987 | C | CT | 58 | a0001c0001t0001g0201 a0001c0001t0001g0231 a0001c0001t0001g0232 others(55): Show |
58 | HG00323.hp2 HG00621.hp2 HG01192.hp2 others(55): Show |
intron_variant | MODIFIER | c.431+5741dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147244987 | ||||||
chr6:147244987 | C | CTT | 7 | a0001c0001t0001g0012 a0001c0001t0006g0087 a0001c0001t0006g0115 others(4): Show |
7 | HG01109.hp2 HG01255.hp2 HG02717.hp2 others(4): Show |
intron_variant | MODIFIER | c.431+5740_431+5741d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147244987 | ||||||
chr6:147244987 | CT | C | 18 | a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0249 others(15): Show |
18 | HG00140.hp1 HG00438.hp2 HG01256.hp2 others(15): Show |
intron_variant | MODIFIER | c.431+5741delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147244987 | ||||||
chr6:147244987 | CTTTTTTT others(5): Show |
C | 2 | a0001c0003t0002g0008 a0001c0003t0002g0009 |
2 | HG02486.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.431+5730_431+5741d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147244987 | ||||||
chr6:147245005 | T | G | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.431+5735T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245005 | |||||||
chr6:147245011 | T | TTTA | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.431+5741_431+5742i others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245011 | |||||||
chr6:147245054 | G | A | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.431+5784G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245054 | |||||||
chr6:147245149 | C | T | 106 | a0001c0001t0001g0001 a0001c0001t0001g0197 a0001c0001t0001g0198 others(103): Show |
106 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(103): Show |
intron_variant | MODIFIER | c.431+5879C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245149 | |||||||
chr6:147245161 | C | A | 1 | a0002c0002t0002g0112 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.431+5891C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245161 | |||||||
chr6:147245312 | T | A | 2 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | HG01071.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.431+6042T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245312 | |||||||
chr6:147245413 | A | G | 1 | a0002c0002t0002g0109 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.431+6143A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245413 | |||||||
chr6:147245559 | T | C | 1 | a0002c0002t0004g0097 | 1 | NA19054.hp2 | intron_variant | MODIFIER | c.431+6289T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245559 | |||||||
chr6:147245619 | C | T | 2 | a0002c0002t0002g0062 a0002c0002t0002g0091 |
2 | HG01071.hp2 HG02257.hp1 |
intron_variant | MODIFIER | c.431+6349C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245619 | |||||||
chr6:147245786 | T | C | 1 | a0001c0001t0003g0307 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.431+6516T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147245786 | |||||||
chr6:147246008 | G | T | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.431+6738G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246008 | |||||||
chr6:147246189 | C | A | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.431+6919C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246189 | |||||||
chr6:147246312 | A | G | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.431+7042A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246312 | |||||||
chr6:147246520 | T | C | 1 | a0002c0002t0033g0349 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.431+7250T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246520 | |||||||
chr6:147246599 | G | A | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.431+7329G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246599 | |||||||
chr6:147246641 | A | G | 59 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(56): Show |
59 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(56): Show |
intron_variant | MODIFIER | c.431+7371A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246641 | |||||||
chr6:147246650 | T | G | 1 | a0002c0002t0002g0085 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.431+7380T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246650 | |||||||
chr6:147246690 | C | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+7420C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246690 | |||||||
chr6:147246767 | A | C | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.431+7497A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147246767 | |||||||
chr6:147247071 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.431+7801A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247071 | |||||||
chr6:147247087 | A | G | 1 | a0001c0001t0003g0059 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.431+7817A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247087 | |||||||
chr6:147247124 | A | G | 2 | a0001c0001t0001g0012 a0002c0002t0030g0023 |
2 | HG03098.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.431+7854A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247124 | |||||||
chr6:147247131 | T | C | 1 | a0001c0004t0021g0175 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.431+7861T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247131 | |||||||
chr6:147247131 | T | G | 1 | a0002c0002t0002g0074 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.431+7861T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247131 | |||||||
chr6:147247255 | T | C | 2 | a0001c0001t0022g0271 a0001c0001t0022g0296 |
2 | NA18967.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.431+7985T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247255 | |||||||
chr6:147247377 | T | C | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.431+8107T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247377 | |||||||
chr6:147247468 | A | G | 1 | a0001c0001t0001g0283 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.431+8198A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247468 | |||||||
chr6:147247563 | T | A | 1 | a0001c0001t0010g0312 | 1 | NA18980.hp1 | intron_variant | MODIFIER | c.431+8293T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247563 | |||||||
chr6:147247726 | C | T | 1 | a0001c0001t0012g0343 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.431+8456C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247726 | |||||||
chr6:147247893 | G | A | 1 | a0002c0002t0008g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.431+8623G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147247893 | |||||||
chr6:147248002 | CGGTGG | C | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.431+8738_431+8742d others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147248002 | ||||||
chr6:147248040 | G | T | 61 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(58): Show |
61 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(58): Show |
intron_variant | MODIFIER | c.431+8770G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248040 | |||||||
chr6:147248069 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+8799C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248069 | |||||||
chr6:147248072 | G | C | 1 | a0002c0002t0002g0109 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.431+8802G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248072 | |||||||
chr6:147248140 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.431+8870C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248140 | |||||||
chr6:147248157 | G | A | 2 | a0001c0001t0001g0236 a0001c0001t0001g0237 |
2 | HG01071.hp1 HG01243.hp2 |
intron_variant | MODIFIER | c.431+8887G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248157 | |||||||
chr6:147248280 | C | CA | 15 | a0001c0001t0001g0012 a0001c0001t0001g0200 a0001c0001t0001g0249 others(12): Show |
15 | HG00280.hp2 HG00423.hp1 HG01261.hp1 others(12): Show |
intron_variant | MODIFIER | c.431+9028dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147248280 | ||||||
chr6:147248280 | CA | C | 11 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(8): Show |
11 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(8): Show |
intron_variant | MODIFIER | c.431+9028delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147248280 | ||||||
chr6:147248417 | G | A | 1 | a0001c0001t0003g0307 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.431+9147G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248417 | |||||||
chr6:147248654 | C | T | 1 | a0002c0014t0002g0095 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.431+9384C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248654 | |||||||
chr6:147248676 | G | A | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.431+9406G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248676 | |||||||
chr6:147248726 | G | C | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.431+9456G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248726 | |||||||
chr6:147248893 | T | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.431+9623T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147248893 | |||||||
chr6:147249103 | G | T | 217 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(214): Show |
217 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.431+9833G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147249103 | |||||||
chr6:147249118 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.431+9848T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147249118 | |||||||
chr6:147249529 | G | T | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.431+10259G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147249529 | |||||||
chr6:147249587 | C | T | 119 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(116): Show |
119 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(116): Show |
intron_variant | MODIFIER | c.431+10317C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147249587 | |||||||
chr6:147249709 | AAG | A | 218 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(215): Show |
218 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(215): Show |
intron_variant | MODIFIER | c.431+10447_431+1044 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147249709 | ||||||
chr6:147249860 | G | A | 2 | a0002c0002t0002g0056 a0002c0002t0002g0167 |
2 | HG02056.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.431+10590G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147249860 | |||||||
chr6:147249933 | A | G | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.431+10663A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147249933 | |||||||
chr6:147250052 | C | T | 11 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(8): Show |
11 | HG02055.hp2 HG02145.hp1 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.432-10563C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250052 | |||||||
chr6:147250107 | A | G | 1 | a0002c0002t0002g0113 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.432-10508A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250107 | |||||||
chr6:147250112 | G | A | 1 | a0001c0001t0006g0116 | 1 | NA18944.hp2 | intron_variant | MODIFIER | c.432-10503G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250112 | |||||||
chr6:147250141 | A | C | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.432-10474A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250141 | |||||||
chr6:147250159 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.432-10456A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250159 | |||||||
chr6:147250318 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.432-10297A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250318 | |||||||
chr6:147250346 | A | G | 1 | a0001c0001t0001g0265 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.432-10269A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250346 | |||||||
chr6:147250398 | T | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.432-10217T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250398 | |||||||
chr6:147250562 | G | T | 1 | a0001c0001t0041g0141 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.432-10053G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250562 | |||||||
chr6:147250592 | C | T | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.432-10023C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250592 | |||||||
chr6:147250652 | G | A | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.432-9963G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250652 | |||||||
chr6:147250699 | A | G | 233 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(230): Show |
233 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(230): Show |
intron_variant | MODIFIER | c.432-9916A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250699 | |||||||
chr6:147250733 | G | C | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.432-9882G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250733 | |||||||
chr6:147250741 | A | G | 1 | a0002c0002t0002g0120 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.432-9874A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250741 | |||||||
chr6:147250900 | G | A | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.432-9715G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147250900 | |||||||
chr6:147250969 | C | CA | 70 | a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0200 others(67): Show |
70 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(67): Show |
intron_variant | MODIFIER | c.432-9622dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147250969 | ||||||
chr6:147250969 | C | CAAA | 7 | a0001c0001t0001g0029 a0002c0002t0002g0065 a0002c0002t0002g0098 others(4): Show |
7 | HG02965.hp1 NA18960.hp1 NA18972.hp1 others(4): Show |
intron_variant | MODIFIER | c.432-9624_432-9622d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147250969 | ||||||
chr6:147250969 | CA | C | 9 | a0001c0001t0001g0230 a0001c0001t0001g0292 a0001c0001t0006g0116 others(6): Show |
9 | HG00280.hp1 HG01515.hp2 HG01891.hp2 others(6): Show |
intron_variant | MODIFIER | c.432-9622delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147250969 | ||||||
chr6:147250969 | CAAAAAAA others(6): Show |
C | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.432-9634_432-9622d others(15): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147250969 | ||||||
chr6:147251021 | C | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.432-9594C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251021 | |||||||
chr6:147251183 | G | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.432-9432G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251183 | |||||||
chr6:147251186 | C | T | 1 | a0001c0001t0012g0035 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.432-9429C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251186 | |||||||
chr6:147251244 | T | G | 121 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(118): Show |
121 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(118): Show |
intron_variant | MODIFIER | c.432-9371T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251244 | |||||||
chr6:147251331 | CCCT | C | 230 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(227): Show |
230 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(227): Show |
intron_variant | MODIFIER | c.432-9280_432-9278d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147251331 | ||||||
chr6:147251379 | C | T | 2 | a0002c0002t0014g0156 a0002c0002t0014g0157 |
2 | HG01891.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.432-9236C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251379 | |||||||
chr6:147251510 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.432-9105C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251510 | |||||||
chr6:147251723 | A | C | 2 | a0002c0002t0002g0089 a0002c0002t0002g0090 |
2 | NA18947.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.432-8892A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251723 | |||||||
chr6:147251793 | T | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.432-8822T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251793 | |||||||
chr6:147251803 | C | CTCGCAGC others(5): Show |
5 | a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 others(2): Show |
5 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.432-8808_432-8797d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147251803 | ||||||
chr6:147251925 | G | A | 1 | a0002c0002t0002g0147 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.432-8690G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147251925 | |||||||
chr6:147252040 | A | C | 18 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(15): Show |
18 | HG00673.hp2 HG02027.hp1 HG02056.hp1 others(15): Show |
intron_variant | MODIFIER | c.432-8575A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252040 | |||||||
chr6:147252041 | A | C | 2 | a0001c0003t0009g0186 a0001c0003t0009g0190 |
2 | HG02717.hp2 HG02723.hp1 |
intron_variant | MODIFIER | c.432-8574A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252041 | |||||||
chr6:147252295 | G | A | 1 | a0002c0002t0002g0138 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.432-8320G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252295 | |||||||
chr6:147252368 | T | C | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.432-8247T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252368 | |||||||
chr6:147252448 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.432-8167G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252448 | |||||||
chr6:147252471 | A | G | 1 | a0001c0001t0001g0204 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.432-8144A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252471 | |||||||
chr6:147252508 | T | C | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.432-8107T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252508 | |||||||
chr6:147252558 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.432-8057A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252558 | |||||||
chr6:147252731 | C | T | 3 | a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0238 |
3 | NA18946.hp2 NA18982.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.432-7884C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252731 | |||||||
chr6:147252767 | A | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.432-7848A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252767 | |||||||
chr6:147252863 | C | T | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.432-7752C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252863 | |||||||
chr6:147252911 | A | C | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.432-7704A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147252911 | |||||||
chr6:147253056 | C | T | 72 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(69): Show |
72 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(69): Show |
intron_variant | MODIFIER | c.432-7559C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253056 | |||||||
chr6:147253240 | C | T | 1 | a0002c0002t0002g0121 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.432-7375C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253240 | |||||||
chr6:147253390 | C | T | 1 | a0001c0001t0003g0002 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.432-7225C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253390 | |||||||
chr6:147253424 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.432-7191C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253424 | |||||||
chr6:147253465 | G | T | 1 | a0002c0002t0002g0124 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.432-7150G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253465 | |||||||
chr6:147253474 | A | G | 2 | a0002c0002t0002g0056 a0002c0002t0002g0167 |
2 | HG02056.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.432-7141A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253474 | |||||||
chr6:147253843 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.432-6772C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147253843 | |||||||
chr6:147254037 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.432-6578A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254037 | |||||||
chr6:147254213 | G | A | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.432-6402G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254213 | |||||||
chr6:147254354 | A | G | 1 | a0001c0001t0001g0251 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.432-6261A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254354 | |||||||
chr6:147254609 | C | T | 1 | a0002c0002t0002g0127 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.432-6006C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254609 | |||||||
chr6:147254622 | G | A | 46 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(43): Show |
46 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.432-5993G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254622 | |||||||
chr6:147254635 | A | G | 3 | a0002c0002t0002g0032 a0002c0002t0014g0156 a0002c0002t0014g0157 |
3 | HG01891.hp2 HG02630.hp1 HG02717.hp1 |
intron_variant | MODIFIER | c.432-5980A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254635 | |||||||
chr6:147254716 | A | G | 59 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(56): Show |
59 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(56): Show |
intron_variant | MODIFIER | c.432-5899A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254716 | |||||||
chr6:147254851 | G | A | 1 | a0001c0001t0011g0331 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.432-5764G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254851 | |||||||
chr6:147254852 | C | T | 5 | a0002c0002t0002g0032 a0002c0002t0014g0019 a0002c0002t0014g0020 others(2): Show |
5 | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.432-5763C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254852 | |||||||
chr6:147254900 | A | C | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.432-5715A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147254900 | |||||||
chr6:147255136 | G | A | 3 | a0001c0004t0007g0016 a0001c0004t0007g0017 a0003c0005t0015g0183 |
3 | HG01884.hp1 HG02615.hp2 HG02886.hp1 |
intron_variant | MODIFIER | c.432-5479G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255136 | |||||||
chr6:147255287 | G | C | 232 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(229): Show |
232 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(229): Show |
intron_variant | MODIFIER | c.432-5328G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255287 | |||||||
chr6:147255292 | G | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.432-5323G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255292 | |||||||
chr6:147255444 | G | A | 194 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(191): Show |
194 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.432-5171G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255444 | |||||||
chr6:147255501 | T | TTTG | 73 | a0001c0004t0007g0017 a0002c0002t0001g0350 a0002c0002t0002g0024 others(70): Show |
73 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(70): Show |
intron_variant | MODIFIER | c.432-5087_432-5085d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147255501 | ||||||
chr6:147255501 | T | TTTGTTG | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.432-5090_432-5085d others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147255501 | ||||||
chr6:147255501 | TTTG | T | 194 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(191): Show |
194 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.432-5087_432-5085d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147255501 | ||||||
chr6:147255514 | T | C | 194 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(191): Show |
194 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.432-5101T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255514 | |||||||
chr6:147255580 | A | G | 1 | a0001c0001t0003g0048 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.432-5035A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255580 | |||||||
chr6:147255736 | A | G | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.432-4879A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147255736 | |||||||
chr6:147256146 | C | CT | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.432-4468dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147256146 | ||||||
chr6:147256156 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.432-4459A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256156 | |||||||
chr6:147256358 | A | AAGG | 346 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(343): Show |
346 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(343): Show |
intron_variant | MODIFIER | c.432-4255_432-4254i others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147256358 | ||||||
chr6:147256510 | C | A | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.432-4105C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256510 | |||||||
chr6:147256523 | C | T | 1 | a0001c0001t0001g0303 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.432-4092C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256523 | |||||||
chr6:147256595 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.432-4020A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256595 | |||||||
chr6:147256647 | T | G | 1 | a0002c0014t0002g0095 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.432-3968T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256647 | |||||||
chr6:147256667 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.432-3948A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256667 | |||||||
chr6:147256668 | T | C | 1 | a0002c0002t0001g0350 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.432-3947T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256668 | |||||||
chr6:147256715 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.432-3900A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256715 | |||||||
chr6:147256734 | G | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.432-3881G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256734 | |||||||
chr6:147256807 | T | C | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.432-3808T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256807 | |||||||
chr6:147256816 | G | A | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.432-3799G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147256816 | |||||||
chr6:147257006 | C | T | 1 | a0001c0001t0003g0307 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.432-3609C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257006 | |||||||
chr6:147257065 | A | G | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.432-3550A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257065 | |||||||
chr6:147257114 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.432-3501A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257114 | |||||||
chr6:147257210 | C | G | 5 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 others(2): Show |
5 | HG00438.hp2 HG02027.hp2 HG02083.hp1 others(2): Show |
intron_variant | MODIFIER | c.432-3405C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257210 | |||||||
chr6:147257219 | A | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.432-3396A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257219 | |||||||
chr6:147257226 | T | C | 8 | a0001c0001t0001g0197 a0001c0001t0001g0206 a0001c0001t0001g0207 others(5): Show |
8 | HG00735.hp2 HG01358.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.432-3389T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257226 | |||||||
chr6:147257563 | T | A | 196 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(193): Show |
196 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(193): Show |
intron_variant | MODIFIER | c.432-3052T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257563 | |||||||
chr6:147257661 | A | C | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.432-2954A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257661 | |||||||
chr6:147257691 | G | A | 3 | a0002c0002t0008g0173 a0002c0002t0008g0174 a0002c0002t0008g0181 |
3 | HG02258.hp2 HG02922.hp1 HG03098.hp2 |
intron_variant | MODIFIER | c.432-2924G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257691 | |||||||
chr6:147257697 | G | C | 212 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(209): Show |
212 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(209): Show |
intron_variant | MODIFIER | c.432-2918G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257697 | |||||||
chr6:147257848 | G | A | 1 | a0001c0001t0001g0288 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.432-2767G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147257848 | |||||||
chr6:147258060 | G | T | 1 | a0001c0001t0001g0235 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.432-2555G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258060 | |||||||
chr6:147258368 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.432-2247C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258368 | |||||||
chr6:147258376 | C | A | 2 | a0002c0002t0014g0156 a0002c0002t0014g0157 |
2 | HG01891.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.432-2239C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258376 | |||||||
chr6:147258383 | G | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.432-2232G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258383 | |||||||
chr6:147258422 | AGTTTTTT | A | 3 | a0001c0001t0001g0300 a0001c0001t0022g0271 a0001c0001t0022g0296 |
3 | HG02165.hp2 NA18967.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.432-2171_432-2165d others(9): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147258422 | ||||||
chr6:147258635 | G | A | 193 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(190): Show |
193 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.432-1980G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258635 | |||||||
chr6:147258694 | A | G | 63 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.432-1921A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258694 | |||||||
chr6:147258722 | C | T | 1 | a0002c0002t0002g0031 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.432-1893C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258722 | |||||||
chr6:147258724 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.432-1891C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258724 | |||||||
chr6:147258728 | C | T | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.432-1887C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258728 | |||||||
chr6:147258798 | G | T | 226 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(223): Show |
226 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(223): Show |
intron_variant | MODIFIER | c.432-1817G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258798 | |||||||
chr6:147258852 | T | G | 1 | a0001c0007t0019g0308 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.432-1763T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147258852 | |||||||
chr6:147259053 | A | G | 1 | a0001c0001t0016g0046 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.432-1562A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259053 | |||||||
chr6:147259311 | T | C | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.432-1304T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259311 | |||||||
chr6:147259315 | A | G | 1 | a0001c0001t0034g0162 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.432-1300A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259315 | |||||||
chr6:147259382 | C | T | 70 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(67): Show |
70 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.432-1233C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259382 | |||||||
chr6:147259533 | C | A | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.432-1082C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259533 | |||||||
chr6:147259561 | A | G | 347 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(344): Show |
347 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
intron_variant | MODIFIER | c.432-1054A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259561 | |||||||
chr6:147259737 | G | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.432-878G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259737 | |||||||
chr6:147259806 | G | T | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.432-809G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147259806 | |||||||
chr6:147260158 | T | A | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.432-457T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147260158 | |||||||
chr6:147260216 | A | C | 1 | a0002c0002t0002g0213 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.432-399A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147260216 | |||||||
chr6:147260317 | TA | T | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.432-295delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr6 | 147260317 | ||||||
chr6:147260447 | T | C | 2 | a0002c0002t0002g0164 a0002c0002t0002g0165 |
2 | HG01517.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.432-168T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147260447 | |||||||
chr6:147260520 | G | A | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.432-95G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147260520 | |||||||
chr6:147260533 | A | G | 2 | a0001c0001t0005g0161 a0001c0001t0024g0039 |
2 | HG03209.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.432-82A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147260533 | |||||||
chr6:147260557 | A | G | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.432-58A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 4/27 | chr6 | 147260557 | |||||||
chr6:147260810 | A | C | 4 | a0001c0001t0010g0312 a0002c0002t0002g0108 a0002c0002t0002g0126 others(1): Show |
4 | HG00558.hp1 NA18939.hp2 NA18941.hp1 others(1): Show |
intron_variant | MODIFIER | c.566+61A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147260810 | |||||||
chr6:147260828 | A | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.566+79A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147260828 | |||||||
chr6:147260839 | G | C | 1 | a0002c0002t0002g0083 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.566+90G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147260839 | |||||||
chr6:147260938 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.566+189A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147260938 | |||||||
chr6:147260953 | T | C | 1 | a0001c0001t0001g0289 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.566+204T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147260953 | |||||||
chr6:147260966 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.566+217C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147260966 | |||||||
chr6:147261027 | A | G | 1 | a0001c0006t0002g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.566+278A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147261027 | |||||||
chr6:147261393 | A | G | 1 | a0001c0001t0001g0299 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.566+644A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147261393 | |||||||
chr6:147261480 | A | G | 1 | a0002c0002t0002g0062 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.566+731A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147261480 | |||||||
chr6:147261627 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.567-663A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147261627 | |||||||
chr6:147261662 | T | C | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.567-628T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147261662 | |||||||
chr6:147261796 | A | G | 1 | a0001c0001t0011g0261 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.567-494A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 5/27 | chr6 | 147261796 | |||||||
chr6:147262431 | A | G | 1 | a0001c0001t0001g0300 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.630+78A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147262431 | |||||||
chr6:147262450 | A | T | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.630+97A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147262450 | |||||||
chr6:147262624 | C | T | 1 | a0001c0001t0001g0244 | 1 | NA19012.hp1 | intron_variant | MODIFIER | c.630+271C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147262624 | |||||||
chr6:147262732 | C | T | 105 | a0001c0001t0001g0001 a0001c0001t0001g0197 a0001c0001t0001g0198 others(102): Show |
105 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(102): Show |
intron_variant | MODIFIER | c.630+379C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147262732 | |||||||
chr6:147262804 | GT | G | 22 | a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0247 others(19): Show |
22 | HG01255.hp2 HG01943.hp2 HG02055.hp1 others(19): Show |
intron_variant | MODIFIER | c.630+459delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr6 | 147262804 | ||||||
chr6:147263091 | T | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.630+738T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263091 | |||||||
chr6:147263166 | A | C | 1 | a0001c0001t0001g0216 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.630+813A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263166 | |||||||
chr6:147263230 | G | A | 2 | a0002c0002t0002g0164 a0002c0002t0002g0165 |
2 | HG01517.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.630+877G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263230 | |||||||
chr6:147263257 | A | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.630+904A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263257 | |||||||
chr6:147263342 | C | CT | 9 | a0001c0001t0010g0323 a0001c0001t0012g0034 a0001c0001t0012g0342 others(6): Show |
9 | HG02559.hp1 HG03098.hp2 HG03130.hp1 others(6): Show |
intron_variant | MODIFIER | c.630+1008dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr6 | 147263342 | ||||||
chr6:147263342 | CT | C | 21 | a0001c0001t0001g0029 a0001c0001t0001g0205 a0001c0001t0001g0244 others(18): Show |
21 | HG00639.hp1 HG00673.hp2 HG01515.hp1 others(18): Show |
intron_variant | MODIFIER | c.630+1008delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr6 | 147263342 | ||||||
chr6:147263342 | CTT | C | 14 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(11): Show |
14 | HG01109.hp2 HG01192.hp2 HG02647.hp1 others(11): Show |
intron_variant | MODIFIER | c.630+1007_630+1008d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr6 | 147263342 | ||||||
chr6:147263342 | CTTT | C | 16 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(13): Show |
16 | HG01255.hp2 HG01884.hp1 HG01943.hp2 others(13): Show |
intron_variant | MODIFIER | c.630+1006_630+1008d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr6 | 147263342 | ||||||
chr6:147263362 | A | T | 4 | a0002c0002t0008g0142 a0002c0002t0008g0173 a0002c0002t0008g0174 others(1): Show |
4 | HG02258.hp2 HG02922.hp1 HG03098.hp2 others(1): Show |
intron_variant | MODIFIER | c.630+1009A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263362 | |||||||
chr6:147263457 | G | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.630+1104G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263457 | |||||||
chr6:147263490 | T | C | 30 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(27): Show |
30 | HG01109.hp2 HG01192.hp2 HG01255.hp2 others(27): Show |
intron_variant | MODIFIER | c.630+1137T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263490 | |||||||
chr6:147263518 | C | G | 1 | a0002c0002t0002g0165 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.630+1165C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263518 | |||||||
chr6:147263801 | A | G | 1 | a0002c0002t0002g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.630+1448A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263801 | |||||||
chr6:147263909 | C | G | 1 | a0002c0002t0002g0075 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.630+1556C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263909 | |||||||
chr6:147263972 | G | A | 1 | a0002c0002t0002g0112 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.630+1619G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263972 | |||||||
chr6:147263978 | G | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.630+1625G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147263978 | |||||||
chr6:147264241 | C | T | 42 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(39): Show |
42 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.630+1888C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147264241 | |||||||
chr6:147264302 | T | C | 1 | a0001c0001t0003g0048 | 1 | NA19006.hp2 | intron_variant | MODIFIER | c.630+1949T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147264302 | |||||||
chr6:147264460 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.630+2107A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147264460 | |||||||
chr6:147264917 | CTCT | C | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.631-2165_631-2163d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | INFO_REALIGN_3_PRIME | chr6 | 147264917 | ||||||
chr6:147264921 | T | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.631-2163T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147264921 | |||||||
chr6:147264922 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.631-2162A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147264922 | |||||||
chr6:147265280 | C | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.631-1804C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265280 | |||||||
chr6:147265372 | A | G | 1 | a0002c0002t0002g0140 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.631-1712A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265372 | |||||||
chr6:147265437 | A | C | 2 | a0001c0008t0001g0347 a0001c0008t0001g0348 |
2 | HG01256.hp2 HG04184.hp1 |
intron_variant | MODIFIER | c.631-1647A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265437 | |||||||
chr6:147265476 | G | A | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.631-1608G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265476 | |||||||
chr6:147265522 | A | G | 1 | a0001c0001t0001g0269 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.631-1562A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265522 | |||||||
chr6:147265560 | G | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.631-1524G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265560 | |||||||
chr6:147265666 | G | A | 3 | a0002c0002t0017g0066 a0002c0002t0017g0079 a0002c0002t0017g0125 |
3 | NA18967.hp1 NA18974.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.631-1418G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265666 | |||||||
chr6:147265783 | T | C | 2 | a0001c0004t0007g0016 a0001c0004t0007g0017 |
2 | HG01884.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.631-1301T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265783 | |||||||
chr6:147265855 | C | T | 1 | a0001c0007t0019g0309 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.631-1229C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147265855 | |||||||
chr6:147266089 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.631-995A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266089 | |||||||
chr6:147266195 | C | G | 197 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(194): Show |
197 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(194): Show |
intron_variant | MODIFIER | c.631-889C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266195 | |||||||
chr6:147266314 | C | T | 1 | a0002c0002t0002g0101 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.631-770C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266314 | |||||||
chr6:147266549 | G | A | 42 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(39): Show |
42 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.631-535G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266549 | |||||||
chr6:147266604 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.631-480A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266604 | |||||||
chr6:147266940 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.631-144A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266940 | |||||||
chr6:147266988 | C | T | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.631-96C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 6/27 | chr6 | 147266988 | |||||||
chr6:147267244 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.714+77A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147267244 | |||||||
chr6:147267295 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.714+128A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147267295 | |||||||
chr6:147267343 | T | C | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.714+176T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147267343 | |||||||
chr6:147268032 | C | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.714+865C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268032 | |||||||
chr6:147268094 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.714+927A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268094 | |||||||
chr6:147268255 | G | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.714+1088G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268255 | |||||||
chr6:147268298 | G | C | 2 | a0002c0002t0002g0056 a0002c0002t0002g0167 |
2 | HG02056.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.714+1131G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268298 | |||||||
chr6:147268317 | C | T | 1 | a0002c0014t0002g0095 | 1 | NA18982.hp1 | intron_variant | MODIFIER | c.714+1150C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268317 | |||||||
chr6:147268639 | G | T | 43 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(40): Show |
43 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.714+1472G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268639 | |||||||
chr6:147268838 | A | T | 1 | a0001c0001t0011g0260 | 1 | HG03471.hp2 | intron_variant | MODIFIER | c.714+1671A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268838 | |||||||
chr6:147268883 | T | C | 2 | a0001c0001t0001g0287 a0001c0001t0001g0290 |
2 | HG01175.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.714+1716T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268883 | |||||||
chr6:147268940 | C | G | 1 | a0002c0002t0002g0136 | 1 | HG00738.hp2 | intron_variant | MODIFIER | c.714+1773C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268940 | |||||||
chr6:147268969 | T | G | 1 | a0002c0002t0002g0213 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.714+1802T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147268969 | |||||||
chr6:147269222 | A | C | 1 | a0001c0001t0003g0326 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.714+2055A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269222 | |||||||
chr6:147269272 | G | T | 233 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(230): Show |
233 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(230): Show |
intron_variant | MODIFIER | c.714+2105G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269272 | |||||||
chr6:147269300 | CTAAAG | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.714+2134_714+2138d others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269300 | |||||||
chr6:147269355 | C | G | 112 | a0001c0001t0001g0001 a0001c0001t0001g0197 a0001c0001t0001g0198 others(109): Show |
112 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.714+2188C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269355 | |||||||
chr6:147269580 | A | G | 220 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(217): Show |
220 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.714+2413A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269580 | |||||||
chr6:147269630 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.714+2463A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269630 | |||||||
chr6:147269753 | G | A | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.714+2586G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269753 | |||||||
chr6:147269886 | G | A | 221 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(218): Show |
221 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(218): Show |
intron_variant | MODIFIER | c.714+2719G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147269886 | |||||||
chr6:147270180 | C | T | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG00280.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.714+3013C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270180 | |||||||
chr6:147270194 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.714+3027C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270194 | |||||||
chr6:147270206 | A | G | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.714+3039A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270206 | |||||||
chr6:147270235 | A | G | 194 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(191): Show |
194 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(191): Show |
intron_variant | MODIFIER | c.714+3068A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270235 | |||||||
chr6:147270268 | A | G | 63 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.714+3101A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270268 | |||||||
chr6:147270396 | C | CA | 191 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(188): Show |
191 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.714+3249dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147270396 | ||||||
chr6:147270396 | C | CAA | 9 | a0001c0001t0001g0054 a0001c0001t0001g0203 a0001c0001t0001g0232 others(6): Show |
9 | HG02027.hp2 HG02970.hp1 HG03516.hp1 others(6): Show |
intron_variant | MODIFIER | c.714+3248_714+3249d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147270396 | ||||||
chr6:147270475 | C | G | 1 | a0002c0002t0002g0100 | 1 | NA18972.hp1 | intron_variant | MODIFIER | c.714+3308C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270475 | |||||||
chr6:147270504 | A | G | 1 | a0001c0001t0001g0199 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.714+3337A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270504 | |||||||
chr6:147270528 | AT | A | 11 | a0001c0001t0001g0303 a0001c0001t0005g0038 a0001c0001t0005g0040 others(8): Show |
11 | HG00323.hp1 HG02055.hp2 HG02723.hp2 others(8): Show |
intron_variant | MODIFIER | c.714+3371delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147270528 | ||||||
chr6:147270596 | C | T | 1 | a0001c0001t0012g0342 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.714+3429C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270596 | |||||||
chr6:147270618 | T | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.714+3451T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270618 | |||||||
chr6:147270620 | T | C | 1 | a0001c0004t0021g0175 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.714+3453T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270620 | |||||||
chr6:147270653 | G | A | 1 | a0002c0002t0002g0140 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.714+3486G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270653 | |||||||
chr6:147270691 | A | G | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.714+3524A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270691 | |||||||
chr6:147270757 | C | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.714+3590C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147270757 | |||||||
chr6:147271017 | T | G | 1 | a0002c0002t0002g0103 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.714+3850T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271017 | |||||||
chr6:147271042 | G | A | 5 | a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 others(2): Show |
5 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.714+3875G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271042 | |||||||
chr6:147271049 | G | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.714+3882G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271049 | |||||||
chr6:147271122 | T | G | 3 | a0002c0002t0002g0137 a0002c0002t0002g0138 a0002c0002t0002g0158 |
3 | HG01891.hp1 HG02109.hp2 HG03225.hp1 |
intron_variant | MODIFIER | c.714+3955T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271122 | |||||||
chr6:147271164 | C | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.714+3997C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271164 | |||||||
chr6:147271241 | T | C | 6 | a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0342 others(3): Show |
6 | HG02559.hp1 HG03130.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.714+4074T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271241 | |||||||
chr6:147271475 | G | A | 248 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(245): Show |
248 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(245): Show |
intron_variant | MODIFIER | c.714+4308G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271475 | |||||||
chr6:147271598 | TG | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.714+4432delG | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271598 | |||||||
chr6:147271627 | G | T | 192 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(189): Show |
192 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(189): Show |
intron_variant | MODIFIER | c.714+4460G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271627 | |||||||
chr6:147271900 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.714+4733C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271900 | |||||||
chr6:147271967 | G | C | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.714+4800G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271967 | |||||||
chr6:147271979 | T | C | 1 | a0001c0001t0001g0217 | 1 | NA19062.hp1 | intron_variant | MODIFIER | c.714+4812T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147271979 | |||||||
chr6:147272244 | C | G | 1 | a0001c0001t0001g0289 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.714+5077C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272244 | |||||||
chr6:147272333 | C | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.714+5166C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272333 | |||||||
chr6:147272588 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.714+5421G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272588 | |||||||
chr6:147272748 | T | C | 8 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(5): Show |
8 | HG00735.hp2 HG01358.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.715-5333T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272748 | |||||||
chr6:147272841 | C | T | 1 | a0002c0002t0002g0111 | 1 | NA18980.hp2 | intron_variant | MODIFIER | c.715-5240C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272841 | |||||||
chr6:147272844 | C | T | 4 | a0002c0002t0002g0033 a0002c0002t0002g0137 a0002c0002t0002g0138 others(1): Show |
4 | HG01891.hp1 HG02109.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.715-5237C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272844 | |||||||
chr6:147272850 | G | A | 1 | a0002c0002t0002g0109 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.715-5231G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147272850 | |||||||
chr6:147273195 | T | TAAAAAAA others(5): Show |
15 | a0001c0001t0001g0282 a0001c0001t0001g0297 a0001c0003t0009g0186 others(12): Show |
15 | HG01884.hp1 HG01884.hp2 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.715-4884_715-4873d others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273195 | ||||||
chr6:147273195 | T | TAAAAAAA others(6): Show |
122 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0170 others(119): Show |
122 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(119): Show |
intron_variant | MODIFIER | c.715-4885_715-4873d others(15): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273195 | ||||||
chr6:147273195 | T | TAAAAAAA others(7): Show |
73 | a0001c0001t0001g0012 a0001c0001t0001g0204 a0001c0001t0001g0220 others(70): Show |
73 | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(70): Show |
intron_variant | MODIFIER | c.715-4873_715-4872i others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273195 | ||||||
chr6:147273195 | T | TAAAAAAA others(8): Show |
14 | a0001c0001t0001g0054 a0001c0001t0003g0021 a0001c0001t0003g0022 others(11): Show |
14 | HG02027.hp1 HG02559.hp2 HG02647.hp1 others(11): Show |
intron_variant | MODIFIER | c.715-4873_715-4872i others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273195 | ||||||
chr6:147273195 | T | TAAAAAAA others(9): Show |
1 | a0001c0001t0003g0050 | 1 | NA19090.hp1 | intron_variant | MODIFIER | c.715-4873_715-4872i others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273195 | ||||||
chr6:147273195 | T | TAAAAAAA others(10): Show |
1 | a0001c0001t0003g0051 | 1 | NA19088.hp2 | intron_variant | MODIFIER | c.715-4873_715-4872i others(19): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273195 | ||||||
chr6:147273334 | A | T | 1 | a0001c0001t0003g0057 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.715-4747A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273334 | |||||||
chr6:147273680 | G | A | 1 | a0002c0002t0002g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.715-4401G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273680 | |||||||
chr6:147273761 | G | C | 1 | a0001c0001t0001g0216 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.715-4320G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273761 | |||||||
chr6:147273767 | G | C | 1 | a0001c0001t0001g0216 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.715-4314G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273767 | |||||||
chr6:147273779 | A | G | 1 | a0002c0002t0002g0078 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.715-4302A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273779 | |||||||
chr6:147273877 | G | A | 10 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(7): Show |
10 | HG02451.hp2 HG02559.hp1 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.715-4204G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273877 | |||||||
chr6:147273949 | C | CA | 14 | a0001c0001t0001g0012 a0001c0001t0001g0235 a0001c0001t0001g0252 others(11): Show |
14 | HG01071.hp2 HG01978.hp1 HG02055.hp2 others(11): Show |
intron_variant | MODIFIER | c.715-4116dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147273949 | ||||||
chr6:147273950 | A | C | 1 | a0002c0002t0002g0088 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.715-4131A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273950 | |||||||
chr6:147273977 | A | G | 1 | a0001c0001t0003g0053 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.715-4104A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273977 | |||||||
chr6:147273990 | AC | A | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.715-4090delC | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147273990 | |||||||
chr6:147274383 | T | G | 3 | a0001c0001t0012g0342 a0001c0001t0012g0343 a0001c0001t0012g0346 |
3 | HG03130.hp1 HG03209.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.715-3698T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147274383 | |||||||
chr6:147274418 | G | A | 217 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(214): Show |
217 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(214): Show |
intron_variant | MODIFIER | c.715-3663G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147274418 | |||||||
chr6:147274512 | C | T | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.715-3569C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147274512 | |||||||
chr6:147274747 | G | C | 1 | a0001c0001t0001g0247 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.715-3334G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147274747 | |||||||
chr6:147274825 | A | G | 8 | a0002c0002t0002g0033 a0002c0002t0002g0134 a0002c0002t0002g0135 others(5): Show |
8 | HG00738.hp2 HG01081.hp1 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.715-3256A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147274825 | |||||||
chr6:147275286 | C | A | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.715-2795C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147275286 | |||||||
chr6:147275533 | T | A | 1 | a0002c0002t0002g0150 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.715-2548T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147275533 | |||||||
chr6:147275549 | C | CT | 33 | a0001c0001t0003g0055 a0001c0001t0003g0059 a0001c0001t0003g0317 others(30): Show |
33 | HG00423.hp2 HG00438.hp1 HG00741.hp2 others(30): Show |
intron_variant | MODIFIER | c.715-2506dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275549 | CT | C | 13 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(10): Show |
13 | HG01515.hp1 HG01517.hp1 HG02451.hp2 others(10): Show |
intron_variant | MODIFIER | c.715-2506delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275549 | CTT | C | 48 | a0001c0001t0001g0012 a0001c0001t0001g0204 a0001c0001t0001g0215 others(45): Show |
48 | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(45): Show |
intron_variant | MODIFIER | c.715-2507_715-2506d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275549 | CTTT | C | 84 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0170 others(81): Show |
84 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(81): Show |
intron_variant | MODIFIER | c.715-2508_715-2506d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275549 | CTTTT | C | 10 | a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0001g0200 others(7): Show |
10 | NA18612.hp1 NA18747.hp1 NA18968.hp2 others(7): Show |
intron_variant | MODIFIER | c.715-2509_715-2506d others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275549 | CTTTTTTT others(2): Show |
C | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.715-2514_715-2506d others(11): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275549 | CTTTTTTT others(8): Show |
C | 1 | a0001c0001t0001g0305 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.715-2520_715-2506d others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr6 | 147275549 | ||||||
chr6:147275745 | G | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.715-2336G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147275745 | |||||||
chr6:147275793 | A | G | 23 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(20): Show |
23 | HG01081.hp2 HG02109.hp1 HG02258.hp2 others(20): Show |
intron_variant | MODIFIER | c.715-2288A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147275793 | |||||||
chr6:147275803 | C | T | 1 | a0001c0001t0001g0207 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.715-2278C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147275803 | |||||||
chr6:147275837 | C | A | 1 | a0002c0002t0002g0033 | 1 | HG02809.hp1 | intron_variant | MODIFIER | c.715-2244C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147275837 | |||||||
chr6:147276002 | A | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.715-2079A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147276002 | |||||||
chr6:147276602 | C | A | 1 | a0001c0001t0001g0251 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.715-1479C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147276602 | |||||||
chr6:147276666 | A | G | 1 | a0001c0001t0001g0232 | 1 | HG02027.hp2 | intron_variant | MODIFIER | c.715-1415A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147276666 | |||||||
chr6:147277021 | A | G | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.715-1060A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277021 | |||||||
chr6:147277048 | G | A | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.715-1033G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277048 | |||||||
chr6:147277062 | G | A | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.715-1019G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277062 | |||||||
chr6:147277155 | C | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.715-926C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277155 | |||||||
chr6:147277450 | G | A | 109 | a0001c0001t0001g0001 a0001c0001t0001g0197 a0001c0001t0001g0198 others(106): Show |
109 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(106): Show |
intron_variant | MODIFIER | c.715-631G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277450 | |||||||
chr6:147277476 | T | G | 1 | a0001c0003t0009g0190 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.715-605T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277476 | |||||||
chr6:147277514 | C | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.715-567C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277514 | |||||||
chr6:147277717 | T | C | 63 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.715-364T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277717 | |||||||
chr6:147277718 | A | T | 63 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.715-363A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277718 | |||||||
chr6:147277843 | C | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0043 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.715-238C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277843 | |||||||
chr6:147277862 | G | A | 1 | a0001c0001t0013g0177 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.715-219G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277862 | |||||||
chr6:147277921 | T | G | 1 | a0001c0001t0001g0203 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.715-160T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 7/27 | chr6 | 147277921 | |||||||
chr6:147278363 | T | C | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.838+159T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147278363 | |||||||
chr6:147278374 | G | C | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.838+170G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147278374 | |||||||
chr6:147278436 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.838+232A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147278436 | |||||||
chr6:147278767 | C | A | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.838+563C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147278767 | |||||||
chr6:147278786 | C | A | 42 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(39): Show |
42 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.838+582C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147278786 | |||||||
chr6:147278789 | G | A | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.838+585G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147278789 | |||||||
chr6:147279007 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.838+803A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279007 | |||||||
chr6:147279066 | T | C | 131 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0197 others(128): Show |
131 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(128): Show |
intron_variant | MODIFIER | c.838+862T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279066 | |||||||
chr6:147279106 | A | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.838+902A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279106 | |||||||
chr6:147279371 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.838+1167A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279371 | |||||||
chr6:147279373 | A | G | 63 | a0001c0001t0001g0054 a0001c0001t0003g0002 a0001c0001t0003g0021 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.838+1169A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279373 | |||||||
chr6:147279443 | A | T | 4 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.838+1239A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279443 | |||||||
chr6:147279659 | C | T | 2 | a0002c0002t0002g0164 a0002c0002t0002g0165 |
2 | HG01517.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.838+1455C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279659 | |||||||
chr6:147279722 | G | A | 1 | a0001c0001t0001g0199 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.838+1518G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279722 | |||||||
chr6:147279765 | C | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.838+1561C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147279765 | |||||||
chr6:147280067 | C | CT | 231 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0054 others(228): Show |
231 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(228): Show |
intron_variant | MODIFIER | c.838+1874dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147280067 | ||||||
chr6:147280086 | A | G | 1 | a0001c0001t0001g0272 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.838+1882A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280086 | |||||||
chr6:147280270 | T | G | 1 | a0001c0001t0001g0234 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.838+2066T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280270 | |||||||
chr6:147280298 | A | C | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.838+2094A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280298 | |||||||
chr6:147280300 | G | A | 19 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(16): Show |
19 | HG01109.hp2 HG01884.hp1 HG02145.hp1 others(16): Show |
intron_variant | MODIFIER | c.838+2096G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280300 | |||||||
chr6:147280493 | T | C | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.838+2289T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280493 | |||||||
chr6:147280586 | G | A | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.838+2382G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280586 | |||||||
chr6:147280716 | A | G | 5 | a0001c0001t0001g0250 a0001c0001t0001g0279 a0001c0001t0001g0280 others(2): Show |
5 | HG00621.hp1 NA18977.hp1 NA19000.hp2 others(2): Show |
intron_variant | MODIFIER | c.838+2512A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280716 | |||||||
chr6:147280739 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.838+2535A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147280739 | |||||||
chr6:147281084 | A | G | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.838+2880A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281084 | |||||||
chr6:147281119 | C | T | 1 | a0001c0001t0038g0337 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.838+2915C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281119 | |||||||
chr6:147281402 | C | T | 1 | a0002c0002t0002g0124 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.838+3198C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281402 | |||||||
chr6:147281437 | A | T | 1 | a0002c0002t0002g0069 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.838+3233A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281437 | |||||||
chr6:147281714 | C | T | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.838+3510C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281714 | |||||||
chr6:147281775 | A | G | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG00280.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.838+3571A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281775 | |||||||
chr6:147281853 | T | A | 3 | a0001c0001t0003g0315 a0001c0001t0040g0313 a0007c0009t0003g0319 |
3 | HG00544.hp2 NA18960.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.838+3649T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281853 | |||||||
chr6:147281955 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.838+3751C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147281955 | |||||||
chr6:147282209 | A | G | 1 | a0001c0001t0010g0333 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.838+4005A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282209 | |||||||
chr6:147282227 | G | A | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.838+4023G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282227 | |||||||
chr6:147282320 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.838+4116C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282320 | |||||||
chr6:147282458 | T | G | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.838+4254T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282458 | |||||||
chr6:147282564 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.838+4360T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282564 | |||||||
chr6:147282595 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.838+4391A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282595 | |||||||
chr6:147282797 | G | T | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.838+4593G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147282797 | |||||||
chr6:147282977 | TA | T | 18 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(15): Show |
18 | HG01109.hp2 HG01884.hp1 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.838+4785delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147282977 | ||||||
chr6:147283107 | C | G | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.838+4903C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283107 | |||||||
chr6:147283167 | A | G | 12 | a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 others(9): Show |
12 | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(9): Show |
intron_variant | MODIFIER | c.838+4963A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283167 | |||||||
chr6:147283378 | C | T | 1 | a0001c0006t0002g0007 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.838+5174C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283378 | |||||||
chr6:147283399 | T | A | 1 | a0001c0001t0001g0288 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.838+5195T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283399 | |||||||
chr6:147283434 | C | G | 25 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(22): Show |
25 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(22): Show |
intron_variant | MODIFIER | c.838+5230C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283434 | |||||||
chr6:147283481 | A | G | 3 | a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 |
3 | HG00738.hp2 HG01081.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.838+5277A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283481 | |||||||
chr6:147283564 | C | T | 1 | a0002c0002t0002g0077 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.838+5360C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283564 | |||||||
chr6:147283613 | G | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.838+5409G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283613 | |||||||
chr6:147283656 | C | T | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.838+5452C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283656 | |||||||
chr6:147283683 | C | T | 1 | a0002c0002t0002g0031 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.838+5479C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283683 | |||||||
chr6:147283843 | T | A | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.838+5639T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283843 | |||||||
chr6:147283865 | C | T | 1 | a0001c0001t0001g0212 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.838+5661C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283865 | |||||||
chr6:147283994 | T | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.838+5790T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147283994 | |||||||
chr6:147284001 | A | C | 1 | a0001c0004t0007g0341 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.838+5797A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284001 | |||||||
chr6:147284013 | C | G | 1 | a0001c0001t0003g0057 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.838+5809C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284013 | |||||||
chr6:147284062 | C | A | 30 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(27): Show |
30 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.838+5858C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284062 | |||||||
chr6:147284108 | T | C | 1 | a0001c0001t0001g0279 | 1 | NA18977.hp1 | intron_variant | MODIFIER | c.838+5904T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284108 | |||||||
chr6:147284164 | G | T | 1 | a0001c0001t0001g0302 | 1 | NA18988.hp2 | intron_variant | MODIFIER | c.838+5960G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284164 | |||||||
chr6:147284184 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.838+5980T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284184 | |||||||
chr6:147284223 | G | A | 38 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(35): Show |
38 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(35): Show |
intron_variant | MODIFIER | c.838+6019G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284223 | |||||||
chr6:147284282 | A | G | 25 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(22): Show |
25 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(22): Show |
intron_variant | MODIFIER | c.838+6078A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284282 | |||||||
chr6:147284304 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.838+6100C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284304 | |||||||
chr6:147284367 | A | T | 227 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(224): Show |
227 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(224): Show |
intron_variant | MODIFIER | c.838+6163A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284367 | |||||||
chr6:147284400 | C | T | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.838+6196C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284400 | |||||||
chr6:147284625 | A | T | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.838+6421A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284625 | |||||||
chr6:147284845 | A | G | 1 | a0001c0001t0001g0264 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.839-6249A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284845 | |||||||
chr6:147284871 | T | A | 234 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(231): Show |
234 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(231): Show |
intron_variant | MODIFIER | c.839-6223T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284871 | |||||||
chr6:147284972 | A | G | 9 | a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 others(6): Show |
9 | HG01261.hp1 HG01993.hp1 HG02148.hp1 others(6): Show |
intron_variant | MODIFIER | c.839-6122A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147284972 | |||||||
chr6:147285024 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.839-6070A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147285024 | |||||||
chr6:147285249 | C | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.839-5845C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147285249 | |||||||
chr6:147285259 | A | G | 129 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0197 others(126): Show |
129 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(126): Show |
intron_variant | MODIFIER | c.839-5835A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147285259 | |||||||
chr6:147285317 | A | G | 1 | a0001c0001t0001g0289 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.839-5777A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147285317 | |||||||
chr6:147285694 | T | C | 1 | a0002c0002t0002g0096 | 1 | HG00741.hp1 | intron_variant | MODIFIER | c.839-5400T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147285694 | |||||||
chr6:147285729 | C | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-5365C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147285729 | |||||||
chr6:147286244 | C | T | 42 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(39): Show |
42 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.839-4850C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147286244 | |||||||
chr6:147286346 | C | A | 18 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(15): Show |
18 | HG01109.hp2 HG01884.hp1 HG02257.hp2 others(15): Show |
intron_variant | MODIFIER | c.839-4748C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147286346 | |||||||
chr6:147286897 | T | C | 4 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(1): Show |
4 | HG02451.hp2 HG02809.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.839-4197T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147286897 | |||||||
chr6:147287012 | ATTT | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.839-4078_839-4076d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287012 | ||||||
chr6:147287193 | C | CT | 4 | a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 others(1): Show |
4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-3901_839-3900i others(3): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287193 | |||||||
chr6:147287194 | A | AT | 176 | a0001c0001t0001g0029 a0001c0001t0001g0054 a0001c0001t0001g0208 others(173): Show |
176 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(173): Show |
intron_variant | MODIFIER | c.839-3874dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287194 | ||||||
chr6:147287194 | A | ATT | 45 | a0001c0001t0003g0050 a0001c0001t0003g0330 a0001c0001t0006g0087 others(42): Show |
45 | HG00323.hp2 HG00741.hp1 HG01071.hp2 others(42): Show |
intron_variant | MODIFIER | c.839-3875_839-3874d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287194 | ||||||
chr6:147287194 | A | ATTT | 10 | a0001c0001t0006g0153 a0001c0001t0013g0184 a0002c0002t0002g0026 others(7): Show |
10 | HG01192.hp2 HG01261.hp1 HG01993.hp1 others(7): Show |
intron_variant | MODIFIER | c.839-3876_839-3874d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287194 | ||||||
chr6:147287194 | A | T | 5 | a0002c0002t0002g0032 a0002c0002t0014g0019 a0002c0002t0014g0020 others(2): Show |
5 | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.839-3900A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287194 | |||||||
chr6:147287194 | AT | A | 9 | a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0001g0205 others(6): Show |
9 | HG00738.hp1 HG01496.hp1 HG01515.hp2 others(6): Show |
intron_variant | MODIFIER | c.839-3874delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287194 | ||||||
chr6:147287194 | ATTTTTTT others(4): Show |
A | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.839-3884_839-3874d others(13): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287194 | ||||||
chr6:147287271 | C | T | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.839-3823C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287271 | |||||||
chr6:147287347 | C | T | 1 | a0001c0001t0001g0206 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.839-3747C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287347 | |||||||
chr6:147287359 | C | T | 2 | a0002c0002t0002g0070 a0002c0002t0002g0071 |
2 | HG01099.hp2 HG01243.hp1 |
intron_variant | MODIFIER | c.839-3735C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287359 | |||||||
chr6:147287364 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.839-3730G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287364 | |||||||
chr6:147287403 | C | T | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.839-3691C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287403 | |||||||
chr6:147287423 | C | G | 193 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(190): Show |
193 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.839-3671C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287423 | |||||||
chr6:147287449 | G | A | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.839-3645G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287449 | |||||||
chr6:147287492 | G | A | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.839-3602G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287492 | |||||||
chr6:147287583 | G | A | 5 | a0002c0002t0002g0032 a0002c0002t0014g0019 a0002c0002t0014g0020 others(2): Show |
5 | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.839-3511G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287583 | |||||||
chr6:147287649 | A | C | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.839-3445A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287649 | |||||||
chr6:147287655 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-3439A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287655 | |||||||
chr6:147287799 | A | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.839-3295A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287799 | |||||||
chr6:147287809 | C | T | 2 | a0001c0001t0001g0300 a0001c0001t0023g0018 |
2 | HG02165.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.839-3285C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287809 | |||||||
chr6:147287850 | A | G | 1 | a0002c0002t0002g0165 | 1 | HG01517.hp1 | intron_variant | MODIFIER | c.839-3244A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287850 | |||||||
chr6:147287890 | A | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.839-3204A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287890 | |||||||
chr6:147287916 | G | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.839-3178G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287916 | |||||||
chr6:147287933 | A | G | 1 | a0002c0002t0002g0078 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.839-3161A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287933 | |||||||
chr6:147287953 | CT | C | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.839-3130delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147287953 | ||||||
chr6:147287982 | A | T | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG00280.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.839-3112A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287982 | |||||||
chr6:147287993 | G | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.839-3101G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147287993 | |||||||
chr6:147288009 | C | T | 1 | a0002c0002t0008g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.839-3085C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288009 | |||||||
chr6:147288060 | C | T | 22 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(19): Show |
22 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(19): Show |
intron_variant | MODIFIER | c.839-3034C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288060 | |||||||
chr6:147288240 | C | T | 223 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(220): Show |
223 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(220): Show |
intron_variant | MODIFIER | c.839-2854C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288240 | |||||||
chr6:147288318 | G | T | 2 | a0002c0002t0002g0081 a0002c0002t0002g0082 |
2 | HG01255.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.839-2776G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288318 | |||||||
chr6:147288419 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.839-2675A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288419 | |||||||
chr6:147288420 | A | G | 42 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(39): Show |
42 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.839-2674A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288420 | |||||||
chr6:147288680 | A | G | 1 | a0001c0003t0009g0191 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.839-2414A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288680 | |||||||
chr6:147288896 | C | G | 1 | a0002c0002t0002g0106 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.839-2198C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288896 | |||||||
chr6:147288981 | C | T | 42 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(39): Show |
42 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(39): Show |
intron_variant | MODIFIER | c.839-2113C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147288981 | |||||||
chr6:147289024 | C | T | 5 | a0002c0002t0002g0032 a0002c0002t0014g0019 a0002c0002t0014g0020 others(2): Show |
5 | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.839-2070C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289024 | |||||||
chr6:147289152 | C | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.839-1942C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289152 | |||||||
chr6:147289288 | T | C | 1 | a0001c0001t0012g0034 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.839-1806T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289288 | |||||||
chr6:147289455 | A | G | 3 | a0002c0002t0017g0066 a0002c0002t0017g0079 a0002c0002t0017g0125 |
3 | NA18967.hp1 NA18974.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.839-1639A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289455 | |||||||
chr6:147289584 | G | A | 222 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(219): Show |
222 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(219): Show |
intron_variant | MODIFIER | c.839-1510G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289584 | |||||||
chr6:147289616 | C | A | 43 | a0001c0001t0003g0307 a0001c0001t0003g0315 a0001c0001t0003g0316 others(40): Show |
43 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(40): Show |
intron_variant | MODIFIER | c.839-1478C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289616 | |||||||
chr6:147289617 | G | A | 30 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(27): Show |
30 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(27): Show |
intron_variant | MODIFIER | c.839-1477G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289617 | |||||||
chr6:147289681 | T | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-1413T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289681 | |||||||
chr6:147289832 | T | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-1262T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289832 | |||||||
chr6:147289834 | AC | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-1257delC | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147289834 | ||||||
chr6:147289837 | C | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-1257C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289837 | |||||||
chr6:147289839 | G | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-1255G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289839 | |||||||
chr6:147289867 | C | T | 1 | a0001c0001t0001g0199 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.839-1227C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289867 | |||||||
chr6:147289920 | G | A | 1 | a0001c0001t0001g0245 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.839-1174G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289920 | |||||||
chr6:147289961 | G | C | 1 | a0001c0001t0001g0215 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.839-1133G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289961 | |||||||
chr6:147289963 | G | A | 1 | a0001c0001t0001g0206 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.839-1131G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289963 | |||||||
chr6:147289963 | G | T | 4 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(1): Show |
4 | HG02257.hp2 HG02258.hp1 NA18906.hp1 others(1): Show |
intron_variant | MODIFIER | c.839-1131G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147289963 | |||||||
chr6:147290431 | G | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.839-663G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147290431 | |||||||
chr6:147290482 | T | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.839-612T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147290482 | |||||||
chr6:147290685 | G | C | 193 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(190): Show |
193 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(190): Show |
intron_variant | MODIFIER | c.839-409G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147290685 | |||||||
chr6:147290817 | T | C | 5 | a0002c0002t0002g0032 a0002c0002t0014g0019 a0002c0002t0014g0020 others(2): Show |
5 | HG01891.hp2 HG02055.hp1 HG02630.hp1 others(2): Show |
intron_variant | MODIFIER | c.839-277T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147290817 | |||||||
chr6:147290867 | T | C | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.839-227T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147290867 | |||||||
chr6:147290934 | T | TA | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.839-154dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | INFO_REALIGN_3_PRIME | chr6 | 147290934 | ||||||
chr6:147290942 | A | T | 2 | a0001c0001t0001g0205 a0001c0001t0001g0244 |
2 | NA19012.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.839-152A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 8/27 | chr6 | 147290942 | |||||||
chr6:147291380 | A | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+208A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147291380 | |||||||
chr6:147291399 | A | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.917+227A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147291399 | |||||||
chr6:147291475 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.917+303T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147291475 | |||||||
chr6:147291556 | T | G | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.917+384T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147291556 | |||||||
chr6:147291871 | C | CTATGGTT others(26): Show |
6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+702_917+703ins others(33): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147291871 | ||||||
chr6:147292092 | G | A | 1 | a0001c0001t0001g0204 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.917+920G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292092 | |||||||
chr6:147292322 | A | C | 1 | a0001c0001t0011g0331 | 1 | HG02630.hp2 | intron_variant | MODIFIER | c.917+1150A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292322 | |||||||
chr6:147292492 | G | A | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG00280.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.917+1320G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292492 | |||||||
chr6:147292503 | ACT | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+1334_917+1335d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147292503 | ||||||
chr6:147292509 | T | C | 1 | a0001c0001t0001g0212 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.917+1337T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292509 | |||||||
chr6:147292528 | T | G | 1 | a0001c0001t0001g0197 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.917+1356T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292528 | |||||||
chr6:147292557 | G | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.917+1385G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292557 | |||||||
chr6:147292645 | GA | G | 13 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(10): Show |
13 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(10): Show |
intron_variant | MODIFIER | c.917+1483delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147292645 | ||||||
chr6:147292741 | C | A | 1 | a0002c0002t0002g0151 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.917+1569C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292741 | |||||||
chr6:147292992 | C | T | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.917+1820C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147292992 | |||||||
chr6:147293257 | AT | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.917+2086delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147293257 | |||||||
chr6:147293371 | T | C | 7 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(4): Show |
7 | HG02055.hp2 HG02723.hp2 HG02970.hp1 others(4): Show |
intron_variant | MODIFIER | c.917+2199T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147293371 | |||||||
chr6:147293535 | C | A | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.917+2363C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147293535 | |||||||
chr6:147293809 | A | G | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.917+2637A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147293809 | |||||||
chr6:147293882 | TGAA | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.917+2719_917+2721d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147293882 | ||||||
chr6:147294109 | G | A | 3 | a0001c0001t0001g0054 a0001c0001t0001g0200 a0001c0001t0001g0201 |
3 | NA18968.hp2 NA18985.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.917+2937G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294109 | |||||||
chr6:147294129 | A | G | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.917+2957A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294129 | |||||||
chr6:147294259 | A | G | 54 | a0001c0001t0001g0211 a0001c0001t0001g0249 a0001c0001t0001g0250 others(51): Show |
54 | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(51): Show |
intron_variant | MODIFIER | c.917+3087A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294259 | |||||||
chr6:147294262 | T | G | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.917+3090T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294262 | |||||||
chr6:147294421 | C | T | 2 | a0002c0002t0002g0108 a0002c0002t0002g0126 |
2 | NA18939.hp2 NA18941.hp1 |
intron_variant | MODIFIER | c.917+3249C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294421 | |||||||
chr6:147294427 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.917+3255C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294427 | |||||||
chr6:147294437 | G | A | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.917+3265G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294437 | |||||||
chr6:147294551 | G | T | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.917+3379G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294551 | |||||||
chr6:147294574 | G | A | 214 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(211): Show |
214 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(211): Show |
intron_variant | MODIFIER | c.917+3402G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294574 | |||||||
chr6:147294611 | C | T | 1 | a0002c0002t0002g0117 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.917+3439C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294611 | |||||||
chr6:147294684 | C | A | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.917+3512C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294684 | |||||||
chr6:147294725 | G | A | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+3553G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294725 | |||||||
chr6:147294778 | T | C | 1 | a0001c0001t0010g0323 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.917+3606T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294778 | |||||||
chr6:147294901 | G | A | 2 | a0002c0002t0002g0056 a0002c0002t0002g0167 |
2 | HG02056.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.917+3729G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294901 | |||||||
chr6:147294995 | C | G | 1 | a0001c0001t0003g0316 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.917+3823C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147294995 | |||||||
chr6:147295200 | T | C | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.917+4028T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295200 | |||||||
chr6:147295289 | C | T | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.917+4117C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295289 | |||||||
chr6:147295362 | C | T | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.917+4190C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295362 | |||||||
chr6:147295452 | C | G | 1 | a0002c0002t0002g0105 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.917+4280C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295452 | |||||||
chr6:147295580 | C | T | 1 | a0002c0002t0002g0124 | 1 | NA18953.hp2 | intron_variant | MODIFIER | c.917+4408C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295580 | |||||||
chr6:147295592 | G | C | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.917+4420G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295592 | |||||||
chr6:147295685 | C | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.917+4513C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295685 | |||||||
chr6:147295807 | G | A | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.917+4635G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295807 | |||||||
chr6:147295822 | G | A | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.917+4650G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147295822 | |||||||
chr6:147296018 | A | T | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.917+4846A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296018 | |||||||
chr6:147296064 | A | C | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.917+4892A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296064 | |||||||
chr6:147296177 | G | C | 220 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(217): Show |
220 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(217): Show |
intron_variant | MODIFIER | c.917+5005G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296177 | |||||||
chr6:147296524 | G | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.917+5352G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296524 | |||||||
chr6:147296528 | A | G | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.917+5356A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296528 | |||||||
chr6:147296568 | T | C | 1 | a0002c0002t0020g0146 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.917+5396T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296568 | |||||||
chr6:147296888 | C | T | 244 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(241): Show |
244 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(241): Show |
intron_variant | MODIFIER | c.917+5716C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296888 | |||||||
chr6:147296891 | G | A | 191 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(188): Show |
191 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(188): Show |
intron_variant | MODIFIER | c.917+5719G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296891 | |||||||
chr6:147296997 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.917+5825A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147296997 | |||||||
chr6:147297251 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+6079C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297251 | |||||||
chr6:147297265 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.917+6093G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297265 | |||||||
chr6:147297377 | A | G | 2 | a0002c0002t0002g0094 a0002c0002t0002g0096 |
2 | HG00741.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.917+6205A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297377 | |||||||
chr6:147297389 | T | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+6217T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297389 | |||||||
chr6:147297561 | A | C | 226 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(223): Show |
226 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(223): Show |
intron_variant | MODIFIER | c.917+6389A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297561 | |||||||
chr6:147297564 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.917+6392A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297564 | |||||||
chr6:147297569 | A | G | 3 | a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 |
3 | NA18977.hp1 NA19065.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.917+6397A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297569 | |||||||
chr6:147297959 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.917+6787A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147297959 | |||||||
chr6:147298054 | G | A | 211 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(208): Show |
211 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(208): Show |
intron_variant | MODIFIER | c.917+6882G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298054 | |||||||
chr6:147298108 | C | T | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.917+6936C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298108 | |||||||
chr6:147298145 | G | A | 1 | a0002c0002t0008g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.917+6973G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298145 | |||||||
chr6:147298180 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.917+7008A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298180 | |||||||
chr6:147298255 | AT | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+7085delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147298255 | ||||||
chr6:147298306 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.917+7134A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298306 | |||||||
chr6:147298467 | A | G | 2 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.917+7295A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298467 | |||||||
chr6:147298525 | A | T | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.917+7353A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298525 | |||||||
chr6:147298582 | T | G | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.917+7410T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298582 | |||||||
chr6:147298680 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.917+7508C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298680 | |||||||
chr6:147298748 | C | T | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.917+7576C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298748 | |||||||
chr6:147298772 | T | G | 1 | a0001c0001t0001g0212 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.917+7600T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298772 | |||||||
chr6:147298797 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.917+7625A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147298797 | |||||||
chr6:147299193 | A | G | 112 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0197 others(109): Show |
112 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(109): Show |
intron_variant | MODIFIER | c.917+8021A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299193 | |||||||
chr6:147299229 | T | C | 1 | a0001c0001t0001g0291 | 1 | NA19088.hp1 | intron_variant | MODIFIER | c.917+8057T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299229 | |||||||
chr6:147299249 | T | TA | 201 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(198): Show |
201 | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(198): Show |
intron_variant | MODIFIER | c.917+8088dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147299249 | ||||||
chr6:147299265 | A | C | 195 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(192): Show |
195 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(192): Show |
intron_variant | MODIFIER | c.917+8093A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299265 | |||||||
chr6:147299309 | G | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.917+8137G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299309 | |||||||
chr6:147299342 | G | A | 1 | a0002c0002t0014g0156 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.917+8170G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299342 | |||||||
chr6:147299678 | A | G | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.917+8506A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299678 | |||||||
chr6:147299797 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.917+8625A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147299797 | |||||||
chr6:147300008 | A | G | 75 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(72): Show |
75 | HG00323.hp2 HG00438.hp1 HG00544.hp2 others(72): Show |
intron_variant | MODIFIER | c.917+8836A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147300008 | |||||||
chr6:147300615 | C | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.917+9443C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147300615 | |||||||
chr6:147300691 | G | A | 1 | a0002c0002t0002g0083 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.918-9393G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147300691 | |||||||
chr6:147300701 | A | G | 3 | a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 |
3 | NA18977.hp1 NA19065.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.918-9383A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147300701 | |||||||
chr6:147300729 | C | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.918-9355C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147300729 | |||||||
chr6:147300971 | G | A | 2 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.918-9113G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147300971 | |||||||
chr6:147301382 | G | C | 2 | a0001c0001t0001g0231 a0001c0001t0001g0238 |
2 | NA18982.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.918-8702G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147301382 | |||||||
chr6:147301436 | A | G | 244 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(241): Show |
244 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(241): Show |
intron_variant | MODIFIER | c.918-8648A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147301436 | |||||||
chr6:147301480 | C | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.918-8604C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147301480 | |||||||
chr6:147301692 | G | A | 1 | a0001c0001t0013g0177 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.918-8392G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147301692 | |||||||
chr6:147301720 | G | C | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.918-8364G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147301720 | |||||||
chr6:147301920 | G | A | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.918-8164G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147301920 | |||||||
chr6:147302051 | G | A | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.918-8033G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302051 | |||||||
chr6:147302231 | CCCTTTAG | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.918-7852_918-7846d others(9): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302231 | |||||||
chr6:147302239 | A | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.918-7845A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302239 | |||||||
chr6:147302241 | T | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.918-7843T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302241 | |||||||
chr6:147302356 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.918-7728C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302356 | |||||||
chr6:147302390 | C | T | 1 | a0001c0001t0003g0316 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.918-7694C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302390 | |||||||
chr6:147302443 | T | C | 7 | a0001c0004t0007g0014 a0001c0004t0007g0015 a0001c0004t0007g0016 others(4): Show |
7 | HG01884.hp1 HG02258.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.918-7641T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302443 | |||||||
chr6:147302548 | G | A | 7 | a0001c0004t0007g0014 a0001c0004t0007g0015 a0001c0004t0007g0016 others(4): Show |
7 | HG01884.hp1 HG02258.hp1 HG02615.hp2 others(4): Show |
intron_variant | MODIFIER | c.918-7536G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302548 | |||||||
chr6:147302549 | C | T | 5 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(2): Show |
5 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.918-7535C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302549 | |||||||
chr6:147302617 | CCAG | C | 70 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(67): Show |
70 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(67): Show |
intron_variant | MODIFIER | c.918-7465_918-7463d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | INFO_REALIGN_3_PRIME | chr6 | 147302617 | ||||||
chr6:147302682 | G | T | 1 | a0002c0002t0002g0032 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.918-7402G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302682 | |||||||
chr6:147302707 | C | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.918-7377C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302707 | |||||||
chr6:147302747 | G | A | 3 | a0001c0001t0001g0269 a0001c0001t0001g0293 a0001c0001t0001g0294 |
3 | HG01109.hp1 HG01433.hp1 NA18906.hp2 |
intron_variant | MODIFIER | c.918-7337G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302747 | |||||||
chr6:147302821 | G | A | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.918-7263G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302821 | |||||||
chr6:147302939 | A | G | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.918-7145A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147302939 | |||||||
chr6:147303195 | A | G | 2 | a0001c0001t0012g0034 a0001c0001t0012g0035 |
2 | HG03540.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.918-6889A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147303195 | |||||||
chr6:147303238 | G | T | 2 | a0001c0001t0005g0042 a0001c0001t0005g0043 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.918-6846G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147303238 | |||||||
chr6:147303318 | C | T | 4 | a0001c0001t0001g0054 a0001c0001t0001g0199 a0001c0001t0001g0200 others(1): Show |
4 | NA18612.hp1 NA18968.hp2 NA18985.hp2 others(1): Show |
intron_variant | MODIFIER | c.918-6766C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147303318 | |||||||
chr6:147303523 | G | A | 2 | a0001c0001t0001g0221 a0001c0001t0001g0233 |
2 | NA18972.hp2 NA19002.hp1 |
intron_variant | MODIFIER | c.918-6561G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147303523 | |||||||
chr6:147303599 | C | T | 1 | a0001c0001t0005g0038 | 1 | HG02723.hp2 | intron_variant | MODIFIER | c.918-6485C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147303599 | |||||||
chr6:147303610 | G | T | 1 | a0002c0002t0002g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.918-6474G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147303610 | |||||||
chr6:147304028 | A | T | 1 | a0001c0001t0001g0211 | 1 | NA20905.hp2 | intron_variant | MODIFIER | c.918-6056A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147304028 | |||||||
chr6:147304080 | A | C | 1 | a0001c0001t0001g0299 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.918-6004A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147304080 | |||||||
chr6:147304224 | C | T | 3 | a0002c0002t0002g0108 a0002c0002t0002g0126 a0002c0002t0002g0240 |
3 | HG00558.hp1 NA18939.hp2 NA18941.hp1 |
intron_variant | MODIFIER | c.918-5860C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147304224 | |||||||
chr6:147304324 | A | T | 1 | a0001c0001t0001g0239 | 1 | NA19005.hp2 | intron_variant | MODIFIER | c.918-5760A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147304324 | |||||||
chr6:147304514 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.918-5570G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147304514 | |||||||
chr6:147304888 | T | G | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.918-5196T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147304888 | |||||||
chr6:147305010 | C | A | 2 | a0002c0002t0014g0156 a0002c0002t0014g0157 |
2 | HG01891.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.918-5074C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147305010 | |||||||
chr6:147305017 | C | A | 2 | a0002c0002t0014g0156 a0002c0002t0014g0157 |
2 | HG01891.hp2 HG02717.hp1 |
intron_variant | MODIFIER | c.918-5067C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147305017 | |||||||
chr6:147305356 | T | G | 1 | a0002c0002t0002g0069 | 1 | HG04199.hp1 | intron_variant | MODIFIER | c.918-4728T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147305356 | |||||||
chr6:147306355 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.918-3729G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306355 | |||||||
chr6:147306519 | G | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.918-3565G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306519 | |||||||
chr6:147306634 | T | C | 2 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.918-3450T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306634 | |||||||
chr6:147306662 | T | C | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.918-3422T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306662 | |||||||
chr6:147306721 | A | T | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.918-3363A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306721 | |||||||
chr6:147306738 | T | C | 3 | a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0292 |
3 | NA18983.hp1 NA19003.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.918-3346T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306738 | |||||||
chr6:147306823 | C | T | 1 | a0002c0002t0017g0066 | 1 | NA18967.hp1 | intron_variant | MODIFIER | c.918-3261C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306823 | |||||||
chr6:147306840 | A | G | 1 | a0002c0002t0002g0032 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.918-3244A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306840 | |||||||
chr6:147306856 | T | C | 1 | a0002c0002t0002g0101 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.918-3228T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306856 | |||||||
chr6:147306857 | G | T | 1 | a0002c0002t0002g0101 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.918-3227G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306857 | |||||||
chr6:147306858 | C | G | 1 | a0002c0002t0002g0101 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.918-3226C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306858 | |||||||
chr6:147306995 | A | G | 1 | a0002c0002t0002g0103 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.918-3089A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147306995 | |||||||
chr6:147307018 | T | C | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.918-3066T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147307018 | |||||||
chr6:147307342 | A | G | 2 | a0001c0001t0001g0211 a0001c0001t0001g0270 |
2 | HG04204.hp1 NA20905.hp2 |
intron_variant | MODIFIER | c.918-2742A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147307342 | |||||||
chr6:147307567 | T | C | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.918-2517T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147307567 | |||||||
chr6:147307613 | A | G | 1 | a0002c0002t0002g0131 | 1 | HG03017.hp2 | intron_variant | MODIFIER | c.918-2471A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147307613 | |||||||
chr6:147307793 | T | A | 1 | a0001c0001t0001g0204 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.918-2291T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147307793 | |||||||
chr6:147307941 | G | A | 1 | a0003c0005t0015g0179 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.918-2143G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147307941 | |||||||
chr6:147308105 | A | T | 1 | a0002c0002t0033g0349 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.918-1979A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308105 | |||||||
chr6:147308282 | T | C | 240 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(237): Show |
240 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.918-1802T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308282 | |||||||
chr6:147308283 | G | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.918-1801G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308283 | |||||||
chr6:147308380 | T | C | 1 | a0001c0001t0001g0301 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.918-1704T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308380 | |||||||
chr6:147308623 | T | G | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.918-1461T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308623 | |||||||
chr6:147308808 | A | C | 11 | a0001c0003t0002g0295 a0002c0002t0002g0003 a0002c0002t0002g0030 others(8): Show |
11 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(8): Show |
intron_variant | MODIFIER | c.918-1276A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308808 | |||||||
chr6:147308908 | A | G | 3 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0172 |
3 | HG02257.hp2 HG02258.hp1 NA18906.hp1 |
intron_variant | MODIFIER | c.918-1176A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147308908 | |||||||
chr6:147309136 | G | A | 2 | a0001c0001t0001g0231 a0001c0001t0001g0238 |
2 | NA18982.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.918-948G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147309136 | |||||||
chr6:147309390 | A | T | 8 | a0002c0002t0002g0033 a0002c0002t0002g0134 a0002c0002t0002g0135 others(5): Show |
8 | HG00738.hp2 HG01081.hp1 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.918-694A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147309390 | |||||||
chr6:147309410 | T | C | 1 | a0001c0001t0038g0337 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.918-674T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147309410 | |||||||
chr6:147309671 | G | C | 121 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(118): Show |
121 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(118): Show |
intron_variant | MODIFIER | c.918-413G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147309671 | |||||||
chr6:147309742 | A | C | 3 | a0002c0002t0004g0093 a0002c0002t0004g0110 a0002c0002t0004g0118 |
3 | NA18945.hp1 NA18963.hp2 NA19090.hp2 |
intron_variant | MODIFIER | c.918-342A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147309742 | |||||||
chr6:147310065 | A | G | 125 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(122): Show |
125 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(122): Show |
intron_variant | MODIFIER | c.918-19A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 9/27 | chr6 | 147310065 | |||||||
chr6:147310285 | T | TA | 146 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(143): Show |
146 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(143): Show |
intron_variant | MODIFIER | c.1072+61dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | 147310285 | ||||||
chr6:147310303 | C | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1072+65C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310303 | |||||||
chr6:147310379 | A | G | 1 | a0001c0001t0001g0288 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1072+141A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310379 | |||||||
chr6:147310424 | G | A | 8 | a0002c0002t0002g0033 a0002c0002t0002g0134 a0002c0002t0002g0135 others(5): Show |
8 | HG00738.hp2 HG01081.hp1 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.1072+186G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310424 | |||||||
chr6:147310428 | A | T | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1072+190A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310428 | |||||||
chr6:147310436 | G | A | 1 | a0001c0001t0001g0203 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1072+198G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310436 | |||||||
chr6:147310529 | G | GTGAT | 144 | a0001c0001t0001g0054 a0001c0001t0001g0197 a0001c0001t0001g0198 others(141): Show |
144 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(141): Show |
intron_variant | MODIFIER | c.1072+325_1072+328d others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | 147310529 | ||||||
chr6:147310529 | G | GTGATTGA others(1): Show |
10 | a0001c0001t0001g0206 a0001c0001t0001g0267 a0001c0001t0001g0268 others(7): Show |
10 | HG01934.hp2 HG02148.hp2 NA18949.hp1 others(7): Show |
intron_variant | MODIFIER | c.1072+321_1072+328d others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | 147310529 | ||||||
chr6:147310529 | GTGAT | G | 137 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(134): Show |
137 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(134): Show |
intron_variant | MODIFIER | c.1072+325_1072+328d others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | 147310529 | ||||||
chr6:147310529 | GTGATTGA others(1): Show |
G | 7 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(4): Show |
7 | HG01255.hp1 HG02717.hp2 HG02723.hp1 others(4): Show |
intron_variant | MODIFIER | c.1072+321_1072+328d others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | INFO_REALIGN_3_PRIME | chr6 | 147310529 | ||||||
chr6:147310593 | G | T | 1 | a0002c0002t0037g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.1072+355G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310593 | |||||||
chr6:147310677 | A | C | 2 | a0002c0002t0002g0089 a0002c0002t0002g0090 |
2 | NA18947.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.1072+439A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310677 | |||||||
chr6:147310825 | G | A | 1 | a0001c0003t0002g0295 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1072+587G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310825 | |||||||
chr6:147310866 | A | G | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1073-589A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310866 | |||||||
chr6:147310955 | A | T | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.1073-500A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147310955 | |||||||
chr6:147311306 | G | A | 1 | a0002c0002t0002g0064 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1073-149G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147311306 | |||||||
chr6:147311360 | G | T | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.1073-95G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 10/27 | chr6 | 147311360 | |||||||
chr6:147311678 | A | G | 1 | a0001c0001t0001g0220 | 1 | NA19066.hp2 | intron_variant | MODIFIER | c.1145+151A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147311678 | |||||||
chr6:147311864 | C | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1145+337C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147311864 | |||||||
chr6:147311866 | A | G | 1 | a0002c0002t0002g0103 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1145+339A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147311866 | |||||||
chr6:147311868 | G | A | 1 | a0001c0001t0003g0002 | 1 | HG02056.hp1 | intron_variant | MODIFIER | c.1145+341G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147311868 | |||||||
chr6:147311899 | G | A | 2 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.1145+372G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147311899 | |||||||
chr6:147311983 | A | G | 126 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(123): Show |
126 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(123): Show |
intron_variant | MODIFIER | c.1145+456A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147311983 | |||||||
chr6:147312222 | G | C | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.1145+695G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312222 | |||||||
chr6:147312341 | A | G | 63 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.1145+814A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312341 | |||||||
chr6:147312377 | A | G | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.1145+850A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312377 | |||||||
chr6:147312470 | C | T | 2 | a0001c0001t0001g0301 a0001c0001t0001g0302 |
2 | NA18988.hp2 NA18990.hp2 |
intron_variant | MODIFIER | c.1145+943C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312470 | |||||||
chr6:147312565 | A | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1145+1038A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312565 | |||||||
chr6:147312577 | T | C | 126 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(123): Show |
126 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(123): Show |
intron_variant | MODIFIER | c.1145+1050T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312577 | |||||||
chr6:147312616 | A | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1145+1089A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312616 | |||||||
chr6:147312650 | A | G | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.1145+1123A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312650 | |||||||
chr6:147312685 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1145+1158A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312685 | |||||||
chr6:147312734 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.1146-1150A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312734 | |||||||
chr6:147312983 | A | T | 125 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(122): Show |
125 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(122): Show |
intron_variant | MODIFIER | c.1146-901A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147312983 | |||||||
chr6:147313008 | A | G | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1146-876A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147313008 | |||||||
chr6:147313179 | T | C | 1 | a0002c0002t0002g0064 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.1146-705T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147313179 | |||||||
chr6:147313213 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1146-671G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147313213 | |||||||
chr6:147313639 | A | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.1146-245A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147313639 | |||||||
chr6:147313701 | G | A | 1 | a0002c0002t0002g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1146-183G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147313701 | |||||||
chr6:147313715 | T | C | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1146-169T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 11/27 | chr6 | 147313715 | |||||||
chr6:147314141 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1293+110A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | chr6 | 147314141 | |||||||
chr6:147314175 | G | T | 60 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.1294-89G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | chr6 | 147314175 | |||||||
chr6:147314182 | T | TAC | 154 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0054 others(151): Show |
154 | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(151): Show |
intron_variant | MODIFIER | c.1294-55_1294-54dup others(2): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr6 | 147314182 | ||||||
chr6:147314182 | T | TACAC | 19 | a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0225 others(16): Show |
19 | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(16): Show |
intron_variant | MODIFIER | c.1294-57_1294-54dup others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr6 | 147314182 | ||||||
chr6:147314182 | T | TACACAC | 4 | a0001c0001t0001g0197 a0001c0001t0001g0288 a0001c0004t0021g0047 others(1): Show |
4 | HG02647.hp2 HG02922.hp2 HG04228.hp2 others(1): Show |
intron_variant | MODIFIER | c.1294-59_1294-54dup others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr6 | 147314182 | ||||||
chr6:147314182 | T | TACACACA others(1): Show |
6 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(3): Show |
6 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(3): Show |
intron_variant | MODIFIER | c.1294-61_1294-54dup others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr6 | 147314182 | ||||||
chr6:147314182 | TACACACA others(1): Show |
T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.1294-61_1294-54del others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | INFO_REALIGN_3_PRIME | chr6 | 147314182 | ||||||
chr6:147314249 | C | G | 152 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(149): Show |
152 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(149): Show |
intron_variant | MODIFIER | c.1294-15C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 12/27 | chr6 | 147314249 | |||||||
chr6:147314411 | C | T | 155 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(152): Show |
155 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(152): Show |
intron_variant | MODIFIER | c.1361+80C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 13/27 | chr6 | 147314411 | |||||||
chr6:147314504 | A | G | 6 | a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0342 others(3): Show |
6 | HG02559.hp1 HG03130.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.1362-92A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 13/27 | chr6 | 147314504 | |||||||
chr6:147314865 | A | G | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.1402+229A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 14/27 | chr6 | 147314865 | |||||||
chr6:147315059 | T | TG | 241 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(238): Show |
241 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(238): Show |
intron_variant | MODIFIER | c.1402+423_1402+424i others(3): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 14/27 | chr6 | 147315059 | |||||||
chr6:147315084 | A | G | 63 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.1403-431A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 14/27 | chr6 | 147315084 | |||||||
chr6:147315874 | C | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1623+139C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 15/27 | chr6 | 147315874 | |||||||
chr6:147315936 | G | A | 2 | a0002c0002t0002g0113 a0002c0002t0002g0121 |
2 | HG01175.hp2 HG03239.hp1 |
intron_variant | MODIFIER | c.1623+201G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 15/27 | chr6 | 147315936 | |||||||
chr6:147316130 | A | G | 1 | a0001c0001t0001g0242 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1624-99A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 15/27 | chr6 | 147316130 | |||||||
chr6:147316173 | T | C | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.1624-56T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 15/27 | chr6 | 147316173 | |||||||
chr6:147316503 | T | G | 1 | a0001c0001t0001g0222 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.1802+96T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147316503 | |||||||
chr6:147316567 | A | G | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(4): Show |
intron_variant | MODIFIER | c.1802+160A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147316567 | |||||||
chr6:147316768 | G | GTTTT | 231 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(228): Show |
231 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(228): Show |
intron_variant | MODIFIER | c.1802+364_1802+365i others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147316768 | ||||||
chr6:147316861 | G | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1802+454G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147316861 | |||||||
chr6:147316890 | T | A | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1802+483T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147316890 | |||||||
chr6:147316921 | A | T | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.1802+514A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147316921 | |||||||
chr6:147317025 | T | G | 56 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(53): Show |
56 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(53): Show |
intron_variant | MODIFIER | c.1802+618T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317025 | |||||||
chr6:147317174 | T | A | 64 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(61): Show |
intron_variant | MODIFIER | c.1802+767T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317174 | |||||||
chr6:147317318 | C | T | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.1802+911C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317318 | |||||||
chr6:147317413 | G | C | 1 | a0001c0001t0003g0318 | 1 | NA19081.hp1 | intron_variant | MODIFIER | c.1802+1006G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317413 | |||||||
chr6:147317438 | G | A | 1 | a0001c0001t0011g0263 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.1802+1031G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317438 | |||||||
chr6:147317550 | A | G | 1 | a0002c0002t0002g0083 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.1802+1143A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317550 | |||||||
chr6:147317631 | T | C | 2 | a0002c0002t0020g0073 a0002c0002t0020g0146 |
2 | HG01256.hp1 HG01515.hp1 |
intron_variant | MODIFIER | c.1802+1224T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147317631 | |||||||
chr6:147318062 | TA | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1802+1656delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318062 | |||||||
chr6:147318172 | C | T | 3 | a0001c0001t0001g0054 a0001c0001t0001g0200 a0001c0001t0001g0201 |
3 | NA18968.hp2 NA18985.hp2 NA19006.hp1 |
intron_variant | MODIFIER | c.1802+1765C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318172 | |||||||
chr6:147318268 | C | T | 1 | a0002c0002t0002g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1802+1861C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318268 | |||||||
chr6:147318299 | G | C | 1 | a0001c0003t0002g0008 | 1 | HG02486.hp2 | intron_variant | MODIFIER | c.1802+1892G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318299 | |||||||
chr6:147318398 | C | T | 100 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(97): Show |
100 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(97): Show |
intron_variant | MODIFIER | c.1802+1991C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318398 | |||||||
chr6:147318424 | C | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1802+2017C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318424 | |||||||
chr6:147318478 | C | T | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.1802+2071C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318478 | |||||||
chr6:147318550 | G | A | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1802+2143G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318550 | |||||||
chr6:147318611 | A | C | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.1802+2204A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318611 | |||||||
chr6:147318668 | CAG | C | 26 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(23): Show |
26 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(23): Show |
intron_variant | MODIFIER | c.1802+2266_1802+226 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147318668 | ||||||
chr6:147318698 | A | T | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1802+2291A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318698 | |||||||
chr6:147318807 | T | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1802+2400T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318807 | |||||||
chr6:147318932 | C | T | 6 | a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0217 others(3): Show |
6 | HG00558.hp2 HG00673.hp1 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.1802+2525C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147318932 | |||||||
chr6:147319036 | A | T | 6 | a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0217 others(3): Show |
6 | HG00558.hp2 HG00673.hp1 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.1802+2629A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319036 | |||||||
chr6:147319089 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1802+2682A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319089 | |||||||
chr6:147319205 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1802+2798A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319205 | |||||||
chr6:147319297 | A | G | 3 | a0002c0002t0002g0068 a0002c0002t0002g0074 a0002c0002t0002g0075 |
3 | HG00642.hp2 HG01346.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.1802+2890A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319297 | |||||||
chr6:147319364 | T | C | 1 | a0001c0001t0005g0161 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.1802+2957T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319364 | |||||||
chr6:147319397 | A | G | 1 | a0002c0002t0001g0350 | 1 | HG03490.hp1 | intron_variant | MODIFIER | c.1802+2990A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319397 | |||||||
chr6:147319463 | T | G | 224 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(221): Show |
224 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(221): Show |
intron_variant | MODIFIER | c.1802+3056T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319463 | |||||||
chr6:147319510 | T | C | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.1802+3103T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319510 | |||||||
chr6:147319608 | CTT | C | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.1802+3202_1802+320 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319608 | |||||||
chr6:147319783 | T | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.1802+3376T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319783 | |||||||
chr6:147319828 | C | CT | 21 | a0001c0001t0001g0012 a0001c0001t0001g0199 a0001c0001t0001g0203 others(18): Show |
21 | HG00735.hp2 HG01123.hp2 HG01175.hp1 others(18): Show |
intron_variant | MODIFIER | c.1802+3449dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147319828 | ||||||
chr6:147319828 | CT | C | 80 | a0001c0001t0001g0054 a0001c0001t0001g0170 a0001c0001t0001g0200 others(77): Show |
80 | HG00140.hp1 HG00544.hp2 HG00621.hp2 others(77): Show |
intron_variant | MODIFIER | c.1802+3449delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147319828 | ||||||
chr6:147319828 | CTT | C | 117 | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0202 others(114): Show |
117 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(114): Show |
intron_variant | MODIFIER | c.1802+3448_1802+344 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147319828 | ||||||
chr6:147319828 | CTTT | C | 19 | a0001c0001t0006g0087 a0001c0001t0006g0166 a0001c0003t0009g0186 others(16): Show |
19 | HG00323.hp2 HG01255.hp2 HG01515.hp1 others(16): Show |
intron_variant | MODIFIER | c.1802+3447_1802+344 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147319828 | ||||||
chr6:147319922 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1802+3515G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147319922 | |||||||
chr6:147320258 | T | A | 2 | a0001c0006t0002g0005 a0001c0006t0002g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.1802+3851T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320258 | |||||||
chr6:147320305 | C | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.1802+3898C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320305 | |||||||
chr6:147320364 | T | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1802+3957T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320364 | |||||||
chr6:147320454 | C | G | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.1802+4047C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320454 | |||||||
chr6:147320491 | A | C | 1 | a0001c0001t0001g0216 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.1802+4084A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320491 | |||||||
chr6:147320552 | A | AGT | 19 | a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0225 others(16): Show |
19 | HG00558.hp2 HG00673.hp1 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.1802+4186_1802+418 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320552 | ||||||
chr6:147320552 | A | AGTGT | 45 | a0001c0001t0001g0001 a0001c0001t0001g0197 a0001c0001t0001g0199 others(42): Show |
45 | HG00099.hp1 HG01071.hp1 HG01099.hp1 others(42): Show |
intron_variant | MODIFIER | c.1802+4184_1802+418 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320552 | ||||||
chr6:147320552 | A | AGTGTGT | 5 | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0229 others(2): Show |
5 | HG00738.hp1 HG02293.hp2 HG03017.hp1 others(2): Show |
intron_variant | MODIFIER | c.1802+4182_1802+418 others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320552 | ||||||
chr6:147320552 | A | AGTGTGTG others(1): Show |
4 | a0001c0001t0001g0204 a0001c0001t0001g0221 a0001c0001t0001g0233 others(1): Show |
4 | HG00544.hp1 HG02129.hp2 NA18972.hp2 others(1): Show |
intron_variant | MODIFIER | c.1802+4180_1802+418 others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320552 | ||||||
chr6:147320552 | AGT | A | 6 | a0001c0001t0001g0269 a0001c0001t0001g0292 a0001c0001t0001g0297 others(3): Show |
6 | HG00323.hp1 HG01109.hp1 HG02572.hp2 others(3): Show |
intron_variant | MODIFIER | c.1802+4186_1802+418 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320552 | ||||||
chr6:147320552 | AGTGTGTG others(9): Show |
A | 1 | a0001c0001t0001g0242 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.1802+4172_1802+418 others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320552 | ||||||
chr6:147320579 | G | GTGTGTGT others(2): Show |
4 | a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0149 others(1): Show |
4 | HG00642.hp1 HG01978.hp2 HG03831.hp1 others(1): Show |
intron_variant | MODIFIER | c.1802+4173_1802+418 others(13): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(11): Show |
2 | a0001c0001t0005g0042 a0001c0001t0005g0043 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.1802+4187_1802+418 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(9): Show |
4 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0044 others(1): Show |
4 | HG02723.hp2 HG02970.hp1 HG03195.hp1 others(1): Show |
intron_variant | MODIFIER | c.1802+4187_1802+418 others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(7): Show |
2 | a0001c0001t0005g0041 a0001c0001t0036g0169 |
2 | HG02055.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1802+4185_1802+418 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(5): Show |
6 | a0001c0001t0005g0161 a0001c0001t0013g0178 a0001c0001t0023g0018 others(3): Show |
6 | HG00323.hp2 HG03139.hp2 HG03209.hp1 others(3): Show |
intron_variant | MODIFIER | c.1802+4183_1802+418 others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(3): Show |
15 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(12): Show |
15 | HG01192.hp2 HG01255.hp2 HG01943.hp2 others(12): Show |
intron_variant | MODIFIER | c.1802+4181_1802+418 others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(1): Show |
71 | a0001c0001t0001g0012 a0001c0001t0003g0328 a0001c0001t0013g0177 others(68): Show |
71 | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(68): Show |
intron_variant | MODIFIER | c.1802+4179_1802+418 others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTGT others(5): Show |
2 | a0001c0004t0007g0016 a0001c0004t0021g0047 |
2 | HG02615.hp2 HG02922.hp2 |
intron_variant | MODIFIER | c.1802+4179_1802+418 others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTT | 83 | a0001c0001t0001g0029 a0001c0001t0001g0170 a0001c0001t0003g0002 others(80): Show |
83 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(80): Show |
intron_variant | MODIFIER | c.1802+4177_1802+417 others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTGTTT others(3): Show |
2 | a0001c0004t0007g0017 a0001c0004t0021g0175 |
2 | HG01884.hp1 HG02647.hp2 |
intron_variant | MODIFIER | c.1802+4177_1802+417 others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTGTT | 24 | a0001c0001t0003g0316 a0001c0001t0018g0334 a0001c0001t0038g0337 others(21): Show |
24 | HG00099.hp2 HG00558.hp1 HG01081.hp2 others(21): Show |
intron_variant | MODIFIER | c.1802+4175_1802+417 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320579 | G | GTT | 22 | a0001c0001t0018g0335 a0001c0001t0018g0336 a0001c0003t0009g0186 others(19): Show |
22 | HG00738.hp2 HG01081.hp1 HG01109.hp2 others(19): Show |
intron_variant | MODIFIER | c.1802+4173_1802+417 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147320579 | ||||||
chr6:147320879 | G | A | 1 | a0001c0003t0002g0010 | 1 | HG01993.hp2 | intron_variant | MODIFIER | c.1803-4080G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320879 | |||||||
chr6:147320933 | A | G | 1 | a0001c0001t0001g0203 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.1803-4026A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147320933 | |||||||
chr6:147321068 | G | A | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.1803-3891G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147321068 | |||||||
chr6:147321134 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1803-3825C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147321134 | |||||||
chr6:147321327 | A | G | 1 | a0002c0002t0008g0173 | 1 | HG02258.hp2 | intron_variant | MODIFIER | c.1803-3632A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147321327 | |||||||
chr6:147321569 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1803-3390C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147321569 | |||||||
chr6:147322054 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.1803-2905C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147322054 | |||||||
chr6:147322161 | A | T | 1 | a0001c0001t0001g0292 | 1 | NA19003.hp2 | intron_variant | MODIFIER | c.1803-2798A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147322161 | |||||||
chr6:147322275 | G | A | 3 | a0001c0001t0001g0029 a0001c0001t0016g0278 a0001c0001t0016g0286 |
3 | HG02965.hp1 NA18940.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.1803-2684G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147322275 | |||||||
chr6:147322318 | A | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1803-2641A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147322318 | |||||||
chr6:147322588 | C | T | 64 | a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0003g0002 others(61): Show |
64 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(61): Show |
intron_variant | MODIFIER | c.1803-2371C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147322588 | |||||||
chr6:147323171 | C | T | 1 | a0001c0001t0001g0229 | 1 | NA19081.hp2 | intron_variant | MODIFIER | c.1803-1788C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323171 | |||||||
chr6:147323356 | C | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1803-1603C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323356 | |||||||
chr6:147323369 | T | C | 156 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(153): Show |
156 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(153): Show |
intron_variant | MODIFIER | c.1803-1590T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323369 | |||||||
chr6:147323373 | C | T | 1 | a0002c0002t0002g0151 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.1803-1586C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323373 | |||||||
chr6:147323383 | C | A | 1 | a0002c0002t0002g0088 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1803-1576C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323383 | |||||||
chr6:147323453 | G | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1803-1506G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323453 | |||||||
chr6:147323471 | A | C | 1 | a0002c0002t0002g0121 | 1 | HG01175.hp2 | intron_variant | MODIFIER | c.1803-1488A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323471 | |||||||
chr6:147323580 | C | T | 1 | a0001c0001t0001g0288 | 1 | HG04228.hp2 | intron_variant | MODIFIER | c.1803-1379C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323580 | |||||||
chr6:147323583 | G | C | 4 | a0001c0001t0001g0250 a0001c0001t0001g0279 a0001c0001t0001g0280 others(1): Show |
4 | HG00621.hp1 NA18977.hp1 NA19065.hp2 others(1): Show |
intron_variant | MODIFIER | c.1803-1376G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323583 | |||||||
chr6:147323592 | A | T | 8 | a0002c0002t0004g0061 a0002c0002t0004g0093 a0002c0002t0004g0097 others(5): Show |
8 | NA18945.hp1 NA18946.hp1 NA18963.hp2 others(5): Show |
intron_variant | MODIFIER | c.1803-1367A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323592 | |||||||
chr6:147323834 | G | C | 1 | a0002c0012t0003g0123 | 1 | NA18979.hp2 | intron_variant | MODIFIER | c.1803-1125G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147323834 | |||||||
chr6:147324148 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1803-811G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324148 | |||||||
chr6:147324149 | C | T | 1 | a0002c0002t0002g0088 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.1803-810C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324149 | |||||||
chr6:147324175 | A | G | 1 | a0001c0001t0001g0001 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.1803-784A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324175 | |||||||
chr6:147324203 | T | G | 2 | a0002c0002t0002g0056 a0002c0002t0002g0167 |
2 | HG02056.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.1803-756T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324203 | |||||||
chr6:147324220 | G | A | 1 | a0002c0002t0002g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.1803-739G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324220 | |||||||
chr6:147324238 | T | C | 1 | a0001c0001t0010g0333 | 1 | HG02165.hp1 | intron_variant | MODIFIER | c.1803-721T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324238 | |||||||
chr6:147324254 | T | G | 6 | a0001c0001t0001g0293 a0001c0001t0018g0334 a0001c0001t0018g0335 others(3): Show |
6 | HG01081.hp2 HG03130.hp2 HG03453.hp2 others(3): Show |
intron_variant | MODIFIER | c.1803-705T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324254 | |||||||
chr6:147324263 | G | GT | 69 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(66): Show |
69 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(66): Show |
intron_variant | MODIFIER | c.1803-696_1803-695i others(3): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324263 | |||||||
chr6:147324263 | G | GTT | 28 | a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0032 others(25): Show |
28 | HG00423.hp2 HG01099.hp2 HG01123.hp1 others(25): Show |
intron_variant | MODIFIER | c.1803-696_1803-695i others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324263 | |||||||
chr6:147324263 | G | T | 4 | a0002c0002t0002g0069 a0002c0002t0002g0127 a0002c0002t0002g0140 others(1): Show |
4 | HG04199.hp1 HG04199.hp2 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.1803-696G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324263 | |||||||
chr6:147324263 | GGTT | G | 5 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(2): Show |
5 | HG02109.hp1 HG02258.hp2 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.1803-695_1803-693d others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324263 | |||||||
chr6:147324264 | G | GT | 42 | a0001c0001t0001g0054 a0001c0001t0001g0203 a0001c0001t0001g0205 others(39): Show |
42 | HG00423.hp1 HG00438.hp2 HG00621.hp1 others(39): Show |
intron_variant | MODIFIER | c.1803-670dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147324264 | ||||||
chr6:147324264 | G | GTT | 7 | a0001c0001t0001g0290 a0001c0004t0007g0013 a0001c0004t0007g0014 others(4): Show |
7 | HG01175.hp1 HG02257.hp2 HG02258.hp1 others(4): Show |
intron_variant | MODIFIER | c.1803-671_1803-670d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147324264 | ||||||
chr6:147324264 | G | T | 114 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(111): Show |
114 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(111): Show |
intron_variant | MODIFIER | c.1803-695G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324264 | |||||||
chr6:147324264 | GT | G | 58 | a0001c0001t0001g0029 a0001c0001t0001g0170 a0001c0001t0001g0243 others(55): Show |
58 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(55): Show |
intron_variant | MODIFIER | c.1803-670delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147324264 | ||||||
chr6:147324264 | GTTTTTTT others(4): Show |
G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.1803-680_1803-670d others(13): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | INFO_REALIGN_3_PRIME | chr6 | 147324264 | ||||||
chr6:147324303 | G | C | 2 | a0002c0002t0002g0108 a0002c0002t0002g0126 |
2 | NA18939.hp2 NA18941.hp1 |
intron_variant | MODIFIER | c.1803-656G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324303 | |||||||
chr6:147324335 | C | T | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.1803-624C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324335 | |||||||
chr6:147324336 | G | A | 105 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(102): Show |
105 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(102): Show |
intron_variant | MODIFIER | c.1803-623G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324336 | |||||||
chr6:147324341 | C | T | 1 | a0001c0003t0002g0295 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.1803-618C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324341 | |||||||
chr6:147324376 | G | A | 1 | a0001c0001t0003g0057 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.1803-583G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324376 | |||||||
chr6:147324413 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.1803-546C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324413 | |||||||
chr6:147324739 | C | T | 3 | a0001c0001t0001g0300 a0001c0001t0022g0271 a0001c0001t0022g0296 |
3 | HG02165.hp2 NA18967.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.1803-220C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324739 | |||||||
chr6:147324914 | A | G | 8 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(5): Show |
8 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.1803-45A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324914 | |||||||
chr6:147324947 | C | G | 1 | a0002c0002t0002g0171 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.1803-12C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 16/27 | chr6 | 147324947 | |||||||
chr6:147325100 | G | T | 1 | a0003c0005t0015g0180 | 1 | HG01109.hp2 | intron_variant | MODIFIER | c.1928+16G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147325100 | |||||||
chr6:147325551 | G | A | 153 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(150): Show |
153 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(150): Show |
intron_variant | MODIFIER | c.1928+467G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147325551 | |||||||
chr6:147325614 | T | A | 60 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.1928+530T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147325614 | |||||||
chr6:147325724 | G | T | 1 | a0002c0002t0002g0101 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.1928+640G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147325724 | |||||||
chr6:147325915 | T | A | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.1928+831T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147325915 | |||||||
chr6:147325993 | T | C | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.1928+909T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147325993 | |||||||
chr6:147326000 | G | A | 1 | a0001c0001t0003g0055 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.1928+916G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326000 | |||||||
chr6:147326094 | A | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1928+1010A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326094 | |||||||
chr6:147326232 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.1929-893C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326232 | |||||||
chr6:147326250 | A | G | 3 | a0001c0001t0005g0040 a0001c0001t0005g0041 a0001c0001t0005g0044 |
3 | HG02055.hp2 HG02970.hp1 NA19043.hp2 |
intron_variant | MODIFIER | c.1929-875A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326250 | |||||||
chr6:147326295 | A | G | 2 | a0001c0003t0009g0187 a0001c0003t0009g0188 |
2 | HG02895.hp1 HG02897.hp2 |
intron_variant | MODIFIER | c.1929-830A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326295 | |||||||
chr6:147326298 | A | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.1929-827A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326298 | |||||||
chr6:147326562 | T | C | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.1929-563T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326562 | |||||||
chr6:147326568 | C | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.1929-557C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326568 | |||||||
chr6:147326615 | C | T | 8 | a0002c0002t0002g0105 a0002c0002t0002g0108 a0002c0002t0002g0126 others(5): Show |
8 | HG00558.hp1 NA18939.hp2 NA18941.hp1 others(5): Show |
intron_variant | MODIFIER | c.1929-510C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326615 | |||||||
chr6:147326831 | C | T | 2 | a0002c0002t0002g0081 a0002c0002t0002g0082 |
2 | HG01255.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.1929-294C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 17/27 | chr6 | 147326831 | |||||||
chr6:147327594 | A | G | 1 | a0001c0001t0001g0203 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2080+318A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327594 | |||||||
chr6:147327602 | C | T | 1 | a0002c0002t0037g0133 | 1 | NA20905.hp1 | intron_variant | MODIFIER | c.2080+326C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327602 | |||||||
chr6:147327615 | G | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2080+339G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327615 | |||||||
chr6:147327623 | T | G | 1 | a0001c0001t0001g0287 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.2080+347T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327623 | |||||||
chr6:147327708 | C | A | 1 | a0001c0001t0013g0177 | 1 | HG03927.hp2 | intron_variant | MODIFIER | c.2080+432C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327708 | |||||||
chr6:147327852 | A | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2080+576A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327852 | |||||||
chr6:147327858 | G | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2080+582G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327858 | |||||||
chr6:147327909 | G | A | 234 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(231): Show |
234 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(231): Show |
intron_variant | MODIFIER | c.2080+633G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327909 | |||||||
chr6:147327941 | G | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2080+665G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327941 | |||||||
chr6:147327952 | A | G | 2 | a0002c0002t0002g0068 a0002c0002t0002g0074 |
2 | HG01346.hp1 HG02735.hp2 |
intron_variant | MODIFIER | c.2080+676A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147327952 | |||||||
chr6:147328120 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2080+844A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328120 | |||||||
chr6:147328141 | C | A | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2080+865C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328141 | |||||||
chr6:147328203 | G | A | 5 | a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 others(2): Show |
5 | NA18612.hp2 NA18940.hp1 NA18947.hp2 others(2): Show |
intron_variant | MODIFIER | c.2080+927G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328203 | |||||||
chr6:147328316 | A | C | 3 | a0002c0002t0002g0132 a0002c0002t0002g0139 a0002c0002t0037g0133 |
3 | HG03688.hp2 HG03834.hp1 NA20905.hp1 |
intron_variant | MODIFIER | c.2080+1040A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328316 | |||||||
chr6:147328488 | C | A | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2080+1212C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328488 | |||||||
chr6:147328678 | G | A | 1 | a0002c0002t0002g0213 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2080+1402G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328678 | |||||||
chr6:147328755 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2080+1479A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328755 | |||||||
chr6:147328908 | C | T | 1 | a0002c0002t0002g0213 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2080+1632C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147328908 | |||||||
chr6:147329272 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2080+1996T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329272 | |||||||
chr6:147329525 | G | C | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2080+2249G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329525 | |||||||
chr6:147329561 | G | A | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2080+2285G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329561 | |||||||
chr6:147329614 | AGGCTTTT others(7): Show |
A | 1 | a0001c0001t0010g0322 | 1 | NA19056.hp2 | intron_variant | MODIFIER | c.2080+2339_2080+235 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329614 | |||||||
chr6:147329617 | C | CT | 82 | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0170 others(79): Show |
82 | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(79): Show |
intron_variant | MODIFIER | c.2080+2367dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147329617 | ||||||
chr6:147329617 | C | CTT | 186 | a0001c0001t0001g0029 a0001c0001t0001g0203 a0001c0001t0001g0206 others(183): Show |
186 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(183): Show |
intron_variant | MODIFIER | c.2080+2366_2080+236 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147329617 | ||||||
chr6:147329617 | C | CTTT | 55 | a0001c0001t0001g0012 a0001c0001t0001g0287 a0001c0001t0003g0002 others(52): Show |
55 | HG00423.hp2 HG00621.hp2 HG00642.hp1 others(52): Show |
intron_variant | MODIFIER | c.2080+2365_2080+236 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147329617 | ||||||
chr6:147329617 | C | CTTTT | 8 | a0001c0001t0001g0250 a0001c0001t0003g0317 a0001c0001t0003g0318 others(5): Show |
8 | HG00621.hp1 HG02145.hp1 HG02615.hp2 others(5): Show |
intron_variant | MODIFIER | c.2080+2364_2080+236 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147329617 | ||||||
chr6:147329617 | C | CTTTTTTT others(2): Show |
6 | a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 others(3): Show |
6 | HG03927.hp2 HG04228.hp1 NA18944.hp2 others(3): Show |
intron_variant | MODIFIER | c.2080+2359_2080+236 others(13): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147329617 | ||||||
chr6:147329617 | C | CTTTTTTT others(3): Show |
3 | a0001c0001t0006g0087 a0001c0001t0006g0152 a0001c0001t0006g0166 |
3 | HG01255.hp2 HG01943.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.2080+2358_2080+236 others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147329617 | ||||||
chr6:147329725 | A | G | 2 | a0002c0002t0002g0089 a0002c0002t0002g0090 |
2 | NA18947.hp2 NA19002.hp2 |
intron_variant | MODIFIER | c.2080+2449A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329725 | |||||||
chr6:147329748 | C | A | 56 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(53): Show |
56 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(53): Show |
intron_variant | MODIFIER | c.2080+2472C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329748 | |||||||
chr6:147329780 | C | T | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2080+2504C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329780 | |||||||
chr6:147329784 | C | T | 4 | a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 others(1): Show |
4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2080+2508C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147329784 | |||||||
chr6:147330249 | T | G | 1 | a0001c0001t0001g0259 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.2080+2973T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147330249 | |||||||
chr6:147330410 | G | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2080+3134G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147330410 | |||||||
chr6:147330489 | A | G | 1 | a0001c0007t0019g0309 | 1 | HG02451.hp1 | intron_variant | MODIFIER | c.2080+3213A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147330489 | |||||||
chr6:147330490 | T | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2080+3214T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147330490 | |||||||
chr6:147331041 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2081-3116A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331041 | |||||||
chr6:147331163 | T | G | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2081-2994T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331163 | |||||||
chr6:147331232 | G | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2081-2925G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331232 | |||||||
chr6:147331345 | G | A | 1 | a0001c0001t0001g0247 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.2081-2812G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331345 | |||||||
chr6:147331734 | C | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2081-2423C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331734 | |||||||
chr6:147331735 | C | T | 4 | a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 others(1): Show |
4 | NA18970.hp1 NA18993.hp1 NA19077.hp2 others(1): Show |
intron_variant | MODIFIER | c.2081-2422C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331735 | |||||||
chr6:147331753 | G | A | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.2081-2404G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331753 | |||||||
chr6:147331804 | TTA | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2081-2352_2081-235 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331804 | |||||||
chr6:147331805 | T | A | 15 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(12): Show |
15 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.2081-2352T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331805 | |||||||
chr6:147331805 | T | TA | 103 | a0001c0001t0001g0012 a0001c0001t0001g0054 a0001c0001t0001g0219 others(100): Show |
103 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(100): Show |
intron_variant | MODIFIER | c.2081-2330dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147331805 | ||||||
chr6:147331805 | T | TAA | 24 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(21): Show |
24 | HG00642.hp2 HG00735.hp1 HG01256.hp1 others(21): Show |
intron_variant | MODIFIER | c.2081-2331_2081-233 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr6 | 147331805 | ||||||
chr6:147331825 | A | G | 1 | a0001c0001t0011g0262 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.2081-2332A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331825 | |||||||
chr6:147331826 | A | AC | 6 | a0001c0001t0001g0300 a0001c0001t0003g0050 a0001c0001t0003g0059 others(3): Show |
6 | HG02165.hp2 HG03516.hp1 NA18939.hp1 others(3): Show |
intron_variant | MODIFIER | c.2081-2331_2081-233 others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331826 | |||||||
chr6:147331826 | A | C | 62 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(59): Show |
62 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(59): Show |
intron_variant | MODIFIER | c.2081-2331A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147331826 | |||||||
chr6:147332036 | G | A | 4 | a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 others(1): Show |
4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2081-2121G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332036 | |||||||
chr6:147332039 | A | G | 4 | a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0127 others(1): Show |
4 | HG03688.hp1 HG04204.hp2 NA18949.hp2 others(1): Show |
intron_variant | MODIFIER | c.2081-2118A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332039 | |||||||
chr6:147332217 | T | C | 1 | a0001c0007t0019g0308 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2081-1940T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332217 | |||||||
chr6:147332268 | C | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2081-1889C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332268 | |||||||
chr6:147332333 | T | G | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2081-1824T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332333 | |||||||
chr6:147332351 | G | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2081-1806G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332351 | |||||||
chr6:147332396 | G | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2081-1761G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332396 | |||||||
chr6:147332447 | G | A | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2081-1710G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332447 | |||||||
chr6:147332447 | G | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2081-1710G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332447 | |||||||
chr6:147332513 | A | G | 1 | a0002c0002t0002g0091 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.2081-1644A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332513 | |||||||
chr6:147332687 | A | G | 8 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(5): Show |
8 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(5): Show |
intron_variant | MODIFIER | c.2081-1470A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332687 | |||||||
chr6:147332967 | G | T | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2081-1190G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147332967 | |||||||
chr6:147333005 | A | G | 1 | a0002c0002t0002g0150 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2081-1152A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333005 | |||||||
chr6:147333309 | G | A | 1 | a0001c0001t0001g0197 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.2081-848G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333309 | |||||||
chr6:147333424 | C | T | 3 | a0002c0002t0002g0094 a0002c0002t0002g0096 a0002c0002t0002g0104 |
3 | HG00735.hp1 HG00741.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.2081-733C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333424 | |||||||
chr6:147333425 | G | A | 2 | a0002c0002t0002g0056 a0002c0002t0002g0167 |
2 | HG02056.hp2 HG02083.hp2 |
intron_variant | MODIFIER | c.2081-732G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333425 | |||||||
chr6:147333438 | C | T | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2081-719C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333438 | |||||||
chr6:147333589 | T | C | 1 | a0001c0004t0021g0175 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2081-568T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333589 | |||||||
chr6:147333591 | T | C | 1 | a0002c0002t0002g0031 | 1 | NA20752.hp1 | intron_variant | MODIFIER | c.2081-566T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333591 | |||||||
chr6:147333610 | C | G | 8 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(5): Show |
8 | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(5): Show |
intron_variant | MODIFIER | c.2081-547C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333610 | |||||||
chr6:147333617 | T | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2081-540T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333617 | |||||||
chr6:147333764 | T | C | 1 | a0002c0002t0002g0120 | 1 | NA18612.hp2 | intron_variant | MODIFIER | c.2081-393T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333764 | |||||||
chr6:147333879 | G | A | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2081-278G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147333879 | |||||||
chr6:147334035 | C | A | 2 | a0002c0002t0002g0108 a0002c0002t0002g0126 |
2 | NA18939.hp2 NA18941.hp1 |
intron_variant | MODIFIER | c.2081-122C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147334035 | |||||||
chr6:147334065 | T | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2081-92T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 18/27 | chr6 | 147334065 | |||||||
chr6:147334399 | T | C | 3 | a0002c0002t0017g0066 a0002c0002t0017g0079 a0002c0002t0017g0125 |
3 | NA18967.hp1 NA18974.hp2 NA18977.hp2 |
intron_variant | MODIFIER | c.2146+177T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334399 | |||||||
chr6:147334485 | T | G | 3 | a0001c0001t0003g0315 a0001c0001t0040g0313 a0007c0009t0003g0319 |
3 | HG00544.hp2 NA18960.hp2 NA19084.hp1 |
intron_variant | MODIFIER | c.2146+263T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334485 | |||||||
chr6:147334588 | G | T | 1 | a0001c0001t0001g0203 | 1 | NA19083.hp1 | intron_variant | MODIFIER | c.2146+366G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334588 | |||||||
chr6:147334593 | T | C | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.2146+371T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334593 | |||||||
chr6:147334745 | G | A | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2146+523G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334745 | |||||||
chr6:147334848 | A | G | 1 | a0002c0002t0002g0127 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.2146+626A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334848 | |||||||
chr6:147334867 | T | C | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2146+645T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147334867 | |||||||
chr6:147335172 | T | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2146+950T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335172 | |||||||
chr6:147335294 | G | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2146+1072G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335294 | |||||||
chr6:147335415 | A | G | 3 | a0001c0004t0007g0016 a0001c0004t0007g0017 a0006c0015t0027g0036 |
3 | HG01884.hp1 HG02572.hp1 HG02615.hp2 |
intron_variant | MODIFIER | c.2146+1193A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335415 | |||||||
chr6:147335480 | A | G | 1 | a0002c0002t0002g0151 | 1 | NA19060.hp2 | intron_variant | MODIFIER | c.2146+1258A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335480 | |||||||
chr6:147335531 | A | G | 1 | a0002c0002t0002g0138 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.2146+1309A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335531 | |||||||
chr6:147335630 | C | T | 5 | a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0194 others(2): Show |
5 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(2): Show |
intron_variant | MODIFIER | c.2146+1408C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335630 | |||||||
chr6:147335770 | C | T | 60 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.2146+1548C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335770 | |||||||
chr6:147335888 | T | C | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2146+1666T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147335888 | |||||||
chr6:147336141 | GT | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2146+1927delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147336141 | ||||||
chr6:147336376 | T | A | 123 | a0002c0002t0001g0350 a0002c0002t0002g0003 a0002c0002t0002g0024 others(120): Show |
123 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(120): Show |
intron_variant | MODIFIER | c.2146+2154T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147336376 | |||||||
chr6:147336515 | A | T | 60 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.2146+2293A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147336515 | |||||||
chr6:147336531 | TGAAGTGA others(7): Show |
T | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2146+2313_2146+232 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147336531 | ||||||
chr6:147336955 | G | C | 1 | a0001c0001t0001g0259 | 1 | NA19077.hp1 | intron_variant | MODIFIER | c.2147-2224G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147336955 | |||||||
chr6:147337056 | C | T | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2147-2123C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337056 | |||||||
chr6:147337112 | T | C | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.2147-2067T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337112 | |||||||
chr6:147337192 | G | GACACACA others(5): Show |
4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.2147-1975_2147-196 others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337192 | G | GACACACA others(7): Show |
2 | a0001c0001t0001g0170 a0001c0001t0003g0002 |
2 | HG02056.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.2147-1977_2147-196 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337192 | G | GACACACA others(9): Show |
6 | a0001c0001t0001g0012 a0001c0001t0011g0331 a0001c0003t0002g0008 others(3): Show |
6 | HG01993.hp2 HG02486.hp2 HG02630.hp2 others(3): Show |
intron_variant | MODIFIER | c.2147-1979_2147-196 others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337192 | G | GACACACA others(11): Show |
29 | a0001c0001t0003g0048 a0001c0001t0003g0145 a0001c0001t0003g0307 others(26): Show |
29 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(26): Show |
intron_variant | MODIFIER | c.2147-1981_2147-196 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337192 | G | GACACACA others(13): Show |
10 | a0001c0001t0003g0049 a0001c0001t0003g0059 a0001c0001t0011g0260 others(7): Show |
10 | HG00673.hp2 HG02451.hp2 HG02809.hp2 others(7): Show |
intron_variant | MODIFIER | c.2147-1983_2147-196 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337192 | G | GACACACA others(15): Show |
27 | a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0050 others(24): Show |
27 | HG02027.hp1 HG02055.hp2 HG02155.hp1 others(24): Show |
intron_variant | MODIFIER | c.2147-1985_2147-196 others(26): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337192 | G | GACACACA others(17): Show |
2 | a0001c0001t0001g0029 a0001c0001t0003g0053 |
2 | HG02965.hp1 NA18983.hp2 |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(28): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337192 | ||||||
chr6:147337214 | C | CACACACA others(9): Show |
2 | a0002c0002t0002g0092 a0002c0002t0002g0104 |
2 | HG00735.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337214 | C | CACACACA others(11): Show |
13 | a0001c0001t0003g0328 a0001c0001t0042g0321 a0001c0004t0007g0013 others(10): Show |
13 | HG01891.hp2 HG02055.hp1 HG02257.hp2 others(10): Show |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337214 | C | CACACACA others(13): Show |
100 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(97): Show |
100 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(97): Show |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337214 | C | CACACACA others(15): Show |
19 | a0002c0002t0001g0350 a0002c0002t0002g0026 a0002c0002t0002g0064 others(16): Show |
19 | HG00639.hp2 HG00642.hp1 HG00642.hp2 others(16): Show |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(26): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337214 | C | CACACACA others(17): Show |
9 | a0001c0001t0013g0177 a0002c0002t0002g0147 a0002c0002t0002g0154 others(6): Show |
9 | HG02004.hp1 HG02109.hp1 HG02258.hp2 others(6): Show |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(28): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337214 | C | CACACACA others(19): Show |
7 | a0001c0001t0006g0152 a0001c0001t0013g0178 a0001c0001t0013g0184 others(4): Show |
7 | HG01192.hp2 HG01433.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(30): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337214 | C | CACACACA others(21): Show |
8 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(5): Show |
8 | HG00323.hp2 HG01255.hp2 HG01943.hp2 others(5): Show |
intron_variant | MODIFIER | c.2147-1964_2147-196 others(32): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147337214 | ||||||
chr6:147337277 | G | A | 1 | a0001c0001t0001g0233 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.2147-1902G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337277 | |||||||
chr6:147337585 | A | G | 1 | a0001c0001t0001g0222 | 1 | NA19058.hp2 | intron_variant | MODIFIER | c.2147-1594A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337585 | |||||||
chr6:147337931 | C | T | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2147-1248C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337931 | |||||||
chr6:147337949 | C | T | 1 | a0002c0002t0002g0137 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.2147-1230C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337949 | |||||||
chr6:147337977 | G | A | 1 | a0002c0002t0002g0030 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.2147-1202G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147337977 | |||||||
chr6:147338225 | C | T | 5 | a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0232 others(2): Show |
5 | HG00438.hp2 HG02027.hp2 HG02083.hp1 others(2): Show |
intron_variant | MODIFIER | c.2147-954C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338225 | |||||||
chr6:147338450 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2147-729C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338450 | |||||||
chr6:147338451 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2147-728T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338451 | |||||||
chr6:147338617 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2147-562C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338617 | |||||||
chr6:147338631 | G | A | 3 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0026g0176 |
3 | HG03834.hp2 HG03927.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.2147-548G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338631 | |||||||
chr6:147338713 | A | G | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.2147-466A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338713 | |||||||
chr6:147338731 | A | AATATATA others(12): Show |
12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2147-431_2147-430i others(21): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147338731 | ||||||
chr6:147338731 | A | AATATATA others(12): Show |
324 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(321): Show |
324 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(321): Show |
intron_variant | MODIFIER | c.2147-431_2147-430i others(21): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147338731 | ||||||
chr6:147338731 | A | AATATATA others(12): Show |
8 | a0001c0001t0003g0053 a0001c0001t0005g0038 a0001c0001t0005g0040 others(5): Show |
8 | HG02055.hp2 HG02723.hp2 HG02970.hp1 others(5): Show |
intron_variant | MODIFIER | c.2147-447_2147-429d others(21): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147338731 | ||||||
chr6:147338731 | A | AATATATA others(12): Show |
3 | a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0238 |
3 | NA18946.hp2 NA18982.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.2147-433_2147-432i others(21): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147338731 | ||||||
chr6:147338860 | C | T | 2 | a0002c0002t0002g0094 a0002c0002t0002g0096 |
2 | HG00741.hp1 HG03491.hp2 |
intron_variant | MODIFIER | c.2147-319C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338860 | |||||||
chr6:147338864 | G | A | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2147-315G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338864 | |||||||
chr6:147338887 | G | GT | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2147-284dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chr6 | 147338887 | ||||||
chr6:147338903 | T | C | 2 | a0001c0001t0016g0046 a0001c0001t0034g0162 |
2 | HG02572.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.2147-276T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338903 | |||||||
chr6:147338930 | T | G | 1 | a0002c0002t0002g0105 | 1 | NA19066.hp1 | intron_variant | MODIFIER | c.2147-249T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 19/27 | chr6 | 147338930 | |||||||
chr6:147339297 | G | C | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 HG03516.hp1 others(1): Show |
intron_variant | MODIFIER | c.2207-40G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 20/27 | chr6 | 147339297 | |||||||
chr6:147340494 | G | A | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2254+1110G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147340494 | |||||||
chr6:147340518 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2254+1134C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147340518 | |||||||
chr6:147340713 | T | C | 1 | a0001c0001t0001g0289 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2254+1329T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147340713 | |||||||
chr6:147340726 | G | A | 99 | a0002c0002t0001g0350 a0002c0002t0002g0024 a0002c0002t0002g0025 others(96): Show |
99 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(96): Show |
intron_variant | MODIFIER | c.2254+1342G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147340726 | |||||||
chr6:147340782 | A | G | 1 | a0001c0001t0003g0332 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.2254+1398A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147340782 | |||||||
chr6:147341286 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2254+1902A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147341286 | |||||||
chr6:147341308 | A | G | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2254+1924A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147341308 | |||||||
chr6:147341321 | G | A | 4 | a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0233 others(1): Show |
4 | NA18963.hp1 NA18972.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.2254+1937G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147341321 | |||||||
chr6:147341405 | G | T | 146 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(143): Show |
146 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(143): Show |
intron_variant | MODIFIER | c.2254+2021G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147341405 | |||||||
chr6:147341559 | A | G | 1 | a0002c0002t0002g0027 | 1 | HG00423.hp2 | intron_variant | MODIFIER | c.2254+2175A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147341559 | |||||||
chr6:147341908 | C | G | 1 | a0002c0002t0002g0032 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.2254+2524C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147341908 | |||||||
chr6:147342207 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2254+2823C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342207 | |||||||
chr6:147342225 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2254+2841A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342225 | |||||||
chr6:147342317 | C | T | 2 | a0001c0001t0001g0223 a0001c0001t0001g0230 |
2 | HG01515.hp2 HG01517.hp2 |
intron_variant | MODIFIER | c.2254+2933C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342317 | |||||||
chr6:147342379 | ATGAATGA others(3): Show |
A | 3 | a0001c0001t0001g0001 a0001c0001t0001g0198 a0001c0001t0001g0245 |
3 | HG01346.hp2 HG01943.hp1 HG03453.hp1 |
intron_variant | MODIFIER | c.2254+2999_2254+300 others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr6 | 147342379 | ||||||
chr6:147342535 | T | C | 1 | a0002c0002t0002g0164 | 1 | HG02976.hp2 | intron_variant | MODIFIER | c.2254+3151T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342535 | |||||||
chr6:147342558 | T | C | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.2254+3174T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342558 | |||||||
chr6:147342576 | T | C | 2 | a0001c0003t0009g0189 a0001c0003t0009g0191 |
2 | HG02976.hp1 HG06807.hp2 |
intron_variant | MODIFIER | c.2254+3192T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342576 | |||||||
chr6:147342866 | C | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(6): Show |
intron_variant | MODIFIER | c.2254+3482C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342866 | |||||||
chr6:147342984 | T | C | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.2254+3600T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147342984 | |||||||
chr6:147343031 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2254+3647G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147343031 | |||||||
chr6:147343059 | A | G | 5 | a0001c0004t0007g0016 a0001c0004t0007g0017 a0001c0004t0021g0047 others(2): Show |
5 | HG01884.hp1 HG02145.hp1 HG02615.hp2 others(2): Show |
intron_variant | MODIFIER | c.2254+3675A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147343059 | |||||||
chr6:147343268 | A | C | 62 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(59): Show |
62 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(59): Show |
intron_variant | MODIFIER | c.2254+3884A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147343268 | |||||||
chr6:147343580 | GTTTT | G | 9 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(6): Show |
9 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(6): Show |
intron_variant | MODIFIER | c.2254+4197_2254+420 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147343580 | |||||||
chr6:147343749 | T | C | 1 | a0001c0001t0001g0238 | 1 | NA18982.hp2 | intron_variant | MODIFIER | c.2254+4365T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147343749 | |||||||
chr6:147343888 | A | G | 1 | a0002c0002t0002g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2254+4504A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147343888 | |||||||
chr6:147344183 | T | C | 6 | a0001c0001t0001g0197 a0001c0001t0001g0215 a0001c0001t0001g0217 others(3): Show |
6 | HG00558.hp2 HG00673.hp1 NA18747.hp1 others(3): Show |
intron_variant | MODIFIER | c.2254+4799T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344183 | |||||||
chr6:147344274 | A | G | 8 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(5): Show |
8 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(5): Show |
intron_variant | MODIFIER | c.2254+4890A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344274 | |||||||
chr6:147344479 | G | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2254+5095G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344479 | |||||||
chr6:147344497 | G | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2254+5113G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344497 | |||||||
chr6:147344586 | G | C | 135 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(132): Show |
135 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(132): Show |
intron_variant | MODIFIER | c.2254+5202G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344586 | |||||||
chr6:147344670 | T | G | 1 | a0001c0001t0001g0241 | 1 | HG02132.hp2 | intron_variant | MODIFIER | c.2254+5286T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344670 | |||||||
chr6:147344796 | G | A | 347 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(344): Show |
347 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(344): Show |
intron_variant | MODIFIER | c.2254+5412G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344796 | |||||||
chr6:147344800 | C | CACTT | 136 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(133): Show |
136 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(133): Show |
intron_variant | MODIFIER | c.2254+5419_2254+542 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr6 | 147344800 | ||||||
chr6:147344947 | G | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.2254+5563G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344947 | |||||||
chr6:147344991 | T | C | 1 | a0002c0002t0032g0080 | 1 | NA18940.hp1 | intron_variant | MODIFIER | c.2254+5607T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147344991 | |||||||
chr6:147345207 | T | C | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2254+5823T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147345207 | |||||||
chr6:147345299 | G | A | 1 | a0001c0001t0003g0057 | 1 | HG02155.hp1 | intron_variant | MODIFIER | c.2254+5915G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147345299 | |||||||
chr6:147345440 | G | A | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2254+6056G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147345440 | |||||||
chr6:147345581 | G | A | 131 | a0001c0004t0007g0016 a0001c0004t0007g0017 a0001c0004t0007g0341 others(128): Show |
131 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(128): Show |
intron_variant | MODIFIER | c.2254+6197G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147345581 | |||||||
chr6:147345801 | T | G | 1 | a0002c0002t0017g0079 | 1 | NA18974.hp2 | intron_variant | MODIFIER | c.2254+6417T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147345801 | |||||||
chr6:147345928 | T | C | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.2254+6544T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147345928 | |||||||
chr6:147346080 | T | C | 2 | a0001c0001t0005g0042 a0001c0001t0005g0043 |
2 | HG02895.hp2 HG02896.hp2 |
intron_variant | MODIFIER | c.2254+6696T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346080 | |||||||
chr6:147346106 | T | G | 1 | a0001c0001t0001g0299 | 1 | HG00140.hp2 | intron_variant | MODIFIER | c.2254+6722T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346106 | |||||||
chr6:147346214 | G | A | 1 | a0002c0002t0002g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2254+6830G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346214 | |||||||
chr6:147346214 | G | C | 1 | a0002c0002t0002g0112 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.2254+6830G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346214 | |||||||
chr6:147346262 | A | G | 1 | a0001c0001t0016g0046 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.2254+6878A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346262 | |||||||
chr6:147346416 | C | T | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.2255-6907C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346416 | |||||||
chr6:147346419 | G | A | 7 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(4): Show |
7 | HG01255.hp2 HG01943.hp2 NA18944.hp2 others(4): Show |
intron_variant | MODIFIER | c.2255-6904G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346419 | |||||||
chr6:147346464 | C | T | 9 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(6): Show |
9 | HG01255.hp2 HG01943.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.2255-6859C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346464 | |||||||
chr6:147346542 | C | T | 1 | a0001c0006t0002g0004 | 1 | HG03540.hp1 | intron_variant | MODIFIER | c.2255-6781C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346542 | |||||||
chr6:147346570 | C | G | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2255-6753C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346570 | |||||||
chr6:147346800 | C | CCTA | 10 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(7): Show |
10 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.2255-6523_2255-652 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147346800 | |||||||
chr6:147347038 | G | A | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2255-6285G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347038 | |||||||
chr6:147347105 | C | G | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2255-6218C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347105 | |||||||
chr6:147347164 | A | G | 1 | a0001c0004t0007g0016 | 1 | HG02615.hp2 | intron_variant | MODIFIER | c.2255-6159A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347164 | |||||||
chr6:147347373 | C | CA | 75 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(72): Show |
75 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(72): Show |
intron_variant | MODIFIER | c.2255-5949dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr6 | 147347373 | ||||||
chr6:147347378 | A | G | 243 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(240): Show |
243 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(240): Show |
intron_variant | MODIFIER | c.2255-5945A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347378 | |||||||
chr6:147347406 | T | C | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.2255-5917T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347406 | |||||||
chr6:147347581 | C | A | 3 | a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0244 |
3 | NA19012.hp1 NA19056.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.2255-5742C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347581 | |||||||
chr6:147347613 | A | C | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2255-5710A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347613 | |||||||
chr6:147347672 | T | C | 1 | a0001c0001t0001g0289 | 1 | HG01123.hp2 | intron_variant | MODIFIER | c.2255-5651T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347672 | |||||||
chr6:147347691 | A | G | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.2255-5632A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347691 | |||||||
chr6:147347795 | T | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2255-5528T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347795 | |||||||
chr6:147347975 | T | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2255-5348T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147347975 | |||||||
chr6:147348950 | T | C | 94 | a0001c0003t0002g0295 a0002c0002t0001g0350 a0002c0002t0002g0024 others(91): Show |
94 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(91): Show |
intron_variant | MODIFIER | c.2255-4373T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147348950 | |||||||
chr6:147349088 | A | G | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2255-4235A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147349088 | |||||||
chr6:147349136 | A | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.2255-4187A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147349136 | |||||||
chr6:147349216 | G | A | 1 | a0001c0001t0003g0325 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.2255-4107G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147349216 | |||||||
chr6:147349370 | T | G | 1 | a0001c0001t0001g0054 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.2255-3953T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147349370 | |||||||
chr6:147349465 | A | T | 98 | a0001c0003t0002g0295 a0002c0002t0001g0350 a0002c0002t0002g0024 others(95): Show |
98 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(95): Show |
intron_variant | MODIFIER | c.2255-3858A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147349465 | |||||||
chr6:147349932 | A | C | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2255-3391A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147349932 | |||||||
chr6:147350201 | T | G | 1 | a0002c0002t0002g0213 | 1 | HG02155.hp2 | intron_variant | MODIFIER | c.2255-3122T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350201 | |||||||
chr6:147350382 | T | G | 4 | a0001c0001t0011g0260 a0001c0001t0011g0261 a0001c0001t0011g0262 others(1): Show |
4 | HG02451.hp2 HG02809.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.2255-2941T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350382 | |||||||
chr6:147350576 | G | A | 2 | a0001c0001t0001g0231 a0001c0001t0001g0238 |
2 | NA18982.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.2255-2747G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350576 | |||||||
chr6:147350593 | T | C | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.2255-2730T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350593 | |||||||
chr6:147350611 | A | G | 46 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(43): Show |
46 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(43): Show |
intron_variant | MODIFIER | c.2255-2712A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350611 | |||||||
chr6:147350693 | T | A | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2255-2630T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350693 | |||||||
chr6:147350697 | C | T | 238 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(235): Show |
238 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(235): Show |
intron_variant | MODIFIER | c.2255-2626C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350697 | |||||||
chr6:147350759 | CCTT | C | 6 | a0001c0001t0001g0054 a0001c0001t0001g0200 a0001c0001t0001g0201 others(3): Show |
6 | HG01517.hp1 HG02886.hp2 HG02976.hp2 others(3): Show |
intron_variant | MODIFIER | c.2255-2563_2255-256 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350759 | |||||||
chr6:147350858 | G | A | 233 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(230): Show |
233 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(230): Show |
intron_variant | MODIFIER | c.2255-2465G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350858 | |||||||
chr6:147350862 | T | G | 6 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(3): Show |
6 | NA18944.hp1 NA18983.hp1 NA18998.hp1 others(3): Show |
intron_variant | MODIFIER | c.2255-2461T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147350862 | |||||||
chr6:147351327 | G | A | 1 | a0001c0001t0001g0301 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.2255-1996G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147351327 | |||||||
chr6:147351329 | G | A | 1 | a0001c0001t0001g0301 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.2255-1994G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147351329 | |||||||
chr6:147351422 | A | G | 1 | a0002c0002t0002g0168 | 1 | HG02886.hp2 | intron_variant | MODIFIER | c.2255-1901A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147351422 | |||||||
chr6:147351975 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2255-1348A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147351975 | |||||||
chr6:147352375 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2255-948C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147352375 | |||||||
chr6:147352376 | C | T | 1 | a0001c0007t0019g0308 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2255-947C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147352376 | |||||||
chr6:147352406 | C | T | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2255-917C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147352406 | |||||||
chr6:147352449 | A | G | 10 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(7): Show |
10 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(7): Show |
intron_variant | MODIFIER | c.2255-874A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147352449 | |||||||
chr6:147352542 | C | T | 1 | a0001c0001t0001g0269 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2255-781C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147352542 | |||||||
chr6:147352621 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2255-702A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147352621 | |||||||
chr6:147353027 | C | A | 2 | a0001c0001t0001g0267 a0001c0001t0001g0292 |
2 | NA19003.hp2 NA19004.hp2 |
intron_variant | MODIFIER | c.2255-296C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147353027 | |||||||
chr6:147353259 | A | T | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2255-64A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 21/27 | chr6 | 147353259 | |||||||
chr6:147353404 | A | T | 1 | a0001c0001t0001g0234 | 1 | HG02083.hp1 | intron_variant | MODIFIER | c.2305+31A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353404 | |||||||
chr6:147353418 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+45G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353418 | |||||||
chr6:147353580 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+207G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353580 | |||||||
chr6:147353670 | TAA | T | 3 | a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0244 |
3 | NA19012.hp1 NA19056.hp1 NA19058.hp2 |
intron_variant | MODIFIER | c.2305+300_2305+301d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr6 | 147353670 | ||||||
chr6:147353889 | A | G | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2305+516A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353889 | |||||||
chr6:147353907 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+534C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353907 | |||||||
chr6:147353935 | G | A | 240 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(237): Show |
240 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(237): Show |
intron_variant | MODIFIER | c.2305+562G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353935 | |||||||
chr6:147353956 | T | C | 2 | a0001c0001t0001g0282 a0001c0001t0025g0281 |
2 | HG01192.hp1 HG01884.hp2 |
intron_variant | MODIFIER | c.2305+583T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147353956 | |||||||
chr6:147354084 | G | GAA | 76 | a0001c0003t0002g0295 a0002c0002t0001g0350 a0002c0002t0002g0024 others(73): Show |
76 | HG00423.hp2 HG00558.hp1 HG00639.hp2 others(73): Show |
intron_variant | MODIFIER | c.2305+711_2305+712i others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147354084 | |||||||
chr6:147354425 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.2305+1052G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147354425 | |||||||
chr6:147354839 | C | T | 1 | a0002c0002t0002g0078 | 1 | HG03927.hp1 | intron_variant | MODIFIER | c.2305+1466C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147354839 | |||||||
chr6:147354863 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2305+1490A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147354863 | |||||||
chr6:147354866 | A | G | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.2305+1493A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147354866 | |||||||
chr6:147355164 | T | C | 1 | a0002c0002t0002g0150 | 1 | HG03688.hp1 | intron_variant | MODIFIER | c.2305+1791T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355164 | |||||||
chr6:147355322 | C | T | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.2305+1949C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355322 | |||||||
chr6:147355367 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+1994G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355367 | |||||||
chr6:147355390 | C | G | 1 | a0001c0001t0001g0301 | 1 | NA18990.hp2 | intron_variant | MODIFIER | c.2305+2017C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355390 | |||||||
chr6:147355420 | G | A | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.2305+2047G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355420 | |||||||
chr6:147355487 | C | A | 1 | a0001c0004t0021g0047 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.2305+2114C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355487 | |||||||
chr6:147355623 | C | G | 1 | a0001c0001t0001g0269 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.2305+2250C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355623 | |||||||
chr6:147355697 | G | T | 1 | a0001c0001t0001g0218 | 1 | HG03017.hp1 | intron_variant | MODIFIER | c.2305+2324G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355697 | |||||||
chr6:147355769 | TGCC | T | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+2397_2305+239 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355769 | |||||||
chr6:147355773 | T | A | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+2400T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355773 | |||||||
chr6:147355776 | C | G | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.2305+2403C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355776 | |||||||
chr6:147355776 | CA | C | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+2404delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355776 | |||||||
chr6:147355779 | A | T | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.2305+2406A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147355779 | |||||||
chr6:147356305 | A | G | 1 | a0002c0002t0014g0019 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.2306-2779A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147356305 | |||||||
chr6:147356389 | T | A | 1 | a0001c0007t0019g0308 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.2306-2695T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147356389 | |||||||
chr6:147356758 | G | A | 232 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(229): Show |
232 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.2306-2326G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147356758 | |||||||
chr6:147356775 | A | C | 4 | a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 others(1): Show |
4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2306-2309A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147356775 | |||||||
chr6:147356932 | C | T | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2306-2152C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147356932 | |||||||
chr6:147356933 | T | C | 1 | a0003c0005t0015g0182 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2306-2151T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147356933 | |||||||
chr6:147357359 | G | A | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2306-1725G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147357359 | |||||||
chr6:147357550 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2306-1534T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147357550 | |||||||
chr6:147357650 | A | T | 1 | a0002c0002t0035g0063 | 1 | HG04184.hp2 | intron_variant | MODIFIER | c.2306-1434A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147357650 | |||||||
chr6:147357821 | C | T | 2 | a0001c0001t0003g0002 a0001c0001t0003g0145 |
2 | HG02056.hp1 NA19079.hp1 |
intron_variant | MODIFIER | c.2306-1263C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147357821 | |||||||
chr6:147357880 | A | G | 1 | a0002c0002t0002g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.2306-1204A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147357880 | |||||||
chr6:147358125 | T | C | 1 | a0001c0001t0001g0198 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.2306-959T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358125 | |||||||
chr6:147358180 | A | G | 166 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(163): Show |
166 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(163): Show |
intron_variant | MODIFIER | c.2306-904A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358180 | |||||||
chr6:147358211 | G | GA | 11 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(8): Show |
11 | HG01109.hp2 HG01993.hp2 HG02145.hp1 others(8): Show |
intron_variant | MODIFIER | c.2306-862dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr6 | 147358211 | ||||||
chr6:147358211 | GA | G | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.2306-862delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | INFO_REALIGN_3_PRIME | chr6 | 147358211 | ||||||
chr6:147358402 | G | A | 1 | a0003c0005t0015g0182 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.2306-682G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358402 | |||||||
chr6:147358495 | T | G | 144 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(141): Show |
144 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(141): Show |
intron_variant | MODIFIER | c.2306-589T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358495 | |||||||
chr6:147358529 | T | C | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2306-555T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358529 | |||||||
chr6:147358597 | C | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2306-487C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358597 | |||||||
chr6:147358729 | G | T | 2 | a0002c0002t0002g0159 a0002c0002t0002g0160 |
2 | HG02615.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.2306-355G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358729 | |||||||
chr6:147358972 | G | A | 1 | a0002c0002t0002g0068 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.2306-112G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147358972 | |||||||
chr6:147359057 | A | G | 7 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(4): Show |
7 | HG02109.hp1 HG02145.hp1 HG02258.hp2 others(4): Show |
intron_variant | MODIFIER | c.2306-27A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 22/27 | chr6 | 147359057 | |||||||
chr6:147359506 | A | G | 4 | a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 others(1): Show |
4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2545+183A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147359506 | |||||||
chr6:147359506 | A | T | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.2545+183A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147359506 | |||||||
chr6:147359574 | A | G | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2545+251A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147359574 | |||||||
chr6:147359730 | G | A | 2 | a0002c0002t0002g0076 a0002c0002t0002g0077 |
2 | HG00280.hp1 HG01123.hp1 |
intron_variant | MODIFIER | c.2545+407G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147359730 | |||||||
chr6:147359856 | A | G | 1 | a0002c0002t0002g0117 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2545+533A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147359856 | |||||||
chr6:147360125 | G | A | 10 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(7): Show |
10 | HG01109.hp2 HG02647.hp1 HG02717.hp2 others(7): Show |
intron_variant | MODIFIER | c.2545+802G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147360125 | |||||||
chr6:147360540 | A | T | 1 | a0001c0001t0001g0228 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.2545+1217A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147360540 | |||||||
chr6:147360635 | T | TAA | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.2545+1312_2545+131 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147360635 | |||||||
chr6:147360757 | A | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.2545+1434A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147360757 | |||||||
chr6:147360757 | AT | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2545+1436delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr6 | 147360757 | ||||||
chr6:147360974 | C | G | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.2545+1651C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147360974 | |||||||
chr6:147361087 | T | C | 11 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(8): Show |
11 | HG01884.hp1 HG02145.hp1 HG02257.hp2 others(8): Show |
intron_variant | MODIFIER | c.2545+1764T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147361087 | |||||||
chr6:147361134 | C | G | 1 | a0002c0002t0008g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.2545+1811C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147361134 | |||||||
chr6:147361209 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.2545+1886A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147361209 | |||||||
chr6:147361331 | A | G | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.2546-2004A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147361331 | |||||||
chr6:147361936 | C | A | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.2546-1399C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147361936 | |||||||
chr6:147362068 | C | T | 1 | a0002c0002t0002g0158 | 1 | HG03225.hp1 | intron_variant | MODIFIER | c.2546-1267C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362068 | |||||||
chr6:147362069 | G | A | 1 | a0001c0003t0002g0009 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2546-1266G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362069 | |||||||
chr6:147362121 | T | TTGTTTAT others(1): Show |
3 | a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 |
3 | NA18977.hp1 NA19065.hp2 NA19068.hp2 |
intron_variant | MODIFIER | c.2546-1211_2546-120 others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr6 | 147362121 | ||||||
chr6:147362156 | A | T | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2546-1179A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362156 | |||||||
chr6:147362159 | A | T | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2546-1176A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362159 | |||||||
chr6:147362161 | A | T | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2546-1174A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362161 | |||||||
chr6:147362163 | G | T | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2546-1172G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362163 | |||||||
chr6:147362164 | G | T | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.2546-1171G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362164 | |||||||
chr6:147362170 | A | G | 63 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(60): Show |
63 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(60): Show |
intron_variant | MODIFIER | c.2546-1165A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362170 | |||||||
chr6:147362281 | A | G | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.2546-1054A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362281 | |||||||
chr6:147362843 | A | G | 1 | a0001c0006t0002g0007 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.2546-492A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147362843 | |||||||
chr6:147363077 | G | T | 1 | a0001c0001t0001g0306 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.2546-258G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147363077 | |||||||
chr6:147363182 | C | T | 232 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(229): Show |
232 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(229): Show |
intron_variant | MODIFIER | c.2546-153C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147363182 | |||||||
chr6:147363227 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2546-108A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 23/27 | chr6 | 147363227 | |||||||
chr6:147363734 | A | G | 4 | a0002c0002t0014g0019 a0002c0002t0014g0020 a0002c0002t0014g0156 others(1): Show |
4 | HG01891.hp2 HG02055.hp1 HG02717.hp1 others(1): Show |
intron_variant | MODIFIER | c.2915+30A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 24/27 | chr6 | 147363734 | |||||||
chr6:147363799 | A | G | 1 | a0001c0001t0001g0277 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.2915+95A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 24/27 | chr6 | 147363799 | |||||||
chr6:147363829 | TTC | T | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.2915+127_2915+128d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 24/27 | INFO_REALIGN_3_PRIME | chr6 | 147363829 | ||||||
chr6:147363841 | T | G | 57 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(54): Show |
57 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.2915+137T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 24/27 | chr6 | 147363841 | |||||||
chr6:147363889 | T | C | 1 | a0001c0001t0001g0285 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.2916-112T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 24/27 | chr6 | 147363889 | |||||||
chr6:147364224 | C | T | 1 | a0001c0001t0010g0323 | 1 | NA19068.hp1 | intron_variant | MODIFIER | c.3081+58C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364224 | |||||||
chr6:147364330 | T | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3081+164T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364330 | |||||||
chr6:147364344 | A | G | 297 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(294): Show |
297 | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
intron_variant | MODIFIER | c.3081+178A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364344 | |||||||
chr6:147364391 | G | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3081+225G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364391 | |||||||
chr6:147364663 | A | G | 1 | a0002c0002t0030g0023 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3081+497A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364663 | |||||||
chr6:147364770 | T | C | 1 | a0001c0001t0001g0294 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.3081+604T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364770 | |||||||
chr6:147364822 | A | C | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3081+656A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364822 | |||||||
chr6:147364946 | A | G | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.3081+780A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147364946 | |||||||
chr6:147365100 | C | CAG | 8 | a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 others(5): Show |
8 | HG00735.hp2 HG01358.hp1 HG01978.hp1 others(5): Show |
intron_variant | MODIFIER | c.3081+937_3081+938d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147365100 | ||||||
chr6:147365138 | G | A | 237 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(234): Show |
237 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(234): Show |
intron_variant | MODIFIER | c.3081+972G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365138 | |||||||
chr6:147365183 | C | T | 2 | a0001c0001t0003g0328 a0001c0001t0042g0321 |
2 | NA18988.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.3081+1017C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365183 | |||||||
chr6:147365388 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.3081+1222A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365388 | |||||||
chr6:147365489 | A | G | 2 | a0001c0001t0003g0050 a0001c0001t0003g0052 |
2 | NA18974.hp1 NA19090.hp1 |
intron_variant | MODIFIER | c.3081+1323A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365489 | |||||||
chr6:147365790 | T | C | 1 | a0002c0002t0002g0083 | 1 | NA18998.hp2 | intron_variant | MODIFIER | c.3081+1624T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365790 | |||||||
chr6:147365885 | A | G | 2 | a0001c0001t0001g0012 a0001c0001t0036g0169 |
2 | HG03098.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.3081+1719A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365885 | |||||||
chr6:147365952 | T | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3081+1786T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147365952 | |||||||
chr6:147366128 | T | C | 1 | a0002c0002t0002g0149 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.3081+1962T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366128 | |||||||
chr6:147366137 | C | G | 5 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(2): Show |
5 | HG01109.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.3081+1971C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366137 | |||||||
chr6:147366167 | A | G | 2 | a0001c0001t0003g0328 a0001c0001t0042g0321 |
2 | NA18988.hp1 NA19072.hp2 |
intron_variant | MODIFIER | c.3081+2001A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366167 | |||||||
chr6:147366228 | C | T | 1 | a0001c0001t0013g0184 | 1 | HG01192.hp2 | intron_variant | MODIFIER | c.3081+2062C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366228 | |||||||
chr6:147366390 | A | G | 1 | a0001c0001t0001g0282 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.3081+2224A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366390 | |||||||
chr6:147366692 | A | G | 1 | a0002c0002t0002g0122 | 1 | NA18949.hp2 | intron_variant | MODIFIER | c.3081+2526A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366692 | |||||||
chr6:147366732 | CTTGCCAG others(7): Show |
C | 1 | a0001c0001t0011g0261 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.3081+2570_3081+258 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147366732 | ||||||
chr6:147366799 | A | G | 1 | a0001c0001t0001g0293 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.3081+2633A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366799 | |||||||
chr6:147366951 | T | A | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.3081+2785T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147366951 | |||||||
chr6:147367054 | G | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3081+2888G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367054 | |||||||
chr6:147367252 | A | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.3081+3086A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367252 | |||||||
chr6:147367488 | T | C | 1 | a0001c0001t0001g0265 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.3081+3322T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367488 | |||||||
chr6:147367548 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3081+3382G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367548 | |||||||
chr6:147367553 | G | A | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3081+3387G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367553 | |||||||
chr6:147367562 | C | T | 1 | a0002c0002t0002g0137 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.3081+3396C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367562 | |||||||
chr6:147367570 | G | A | 1 | a0001c0001t0022g0271 | 1 | NA19064.hp2 | intron_variant | MODIFIER | c.3081+3404G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367570 | |||||||
chr6:147367617 | G | A | 2 | a0002c0002t0002g0192 a0002c0002t0002g0193 |
2 | HG03491.hp1 HG03492.hp1 |
intron_variant | MODIFIER | c.3081+3451G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367617 | |||||||
chr6:147367629 | T | C | 165 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(162): Show |
165 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(162): Show |
intron_variant | MODIFIER | c.3081+3463T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367629 | |||||||
chr6:147367841 | A | G | 1 | a0001c0001t0001g0198 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.3081+3675A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367841 | |||||||
chr6:147367914 | A | G | 3 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0026g0176 |
3 | HG03834.hp2 HG03927.hp2 HG04228.hp1 |
intron_variant | MODIFIER | c.3081+3748A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367914 | |||||||
chr6:147367971 | T | A | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.3081+3805T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367971 | |||||||
chr6:147367983 | A | T | 1 | a0001c0001t0001g0265 | 1 | NA18998.hp1 | intron_variant | MODIFIER | c.3081+3817A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147367983 | |||||||
chr6:147368101 | C | T | 2 | a0001c0001t0001g0276 a0001c0001t0001g0283 |
2 | HG00423.hp1 NA18970.hp2 |
intron_variant | MODIFIER | c.3081+3935C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368101 | |||||||
chr6:147368182 | A | G | 1 | a0002c0002t0014g0020 | 1 | NA19043.hp1 | intron_variant | MODIFIER | c.3081+4016A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368182 | |||||||
chr6:147368216 | C | G | 2 | a0001c0001t0001g0287 a0001c0001t0001g0290 |
2 | HG01175.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.3081+4050C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368216 | |||||||
chr6:147368258 | TA | T | 128 | a0001c0001t0001g0238 a0001c0001t0006g0152 a0001c0003t0002g0295 others(125): Show |
128 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(125): Show |
intron_variant | MODIFIER | c.3081+4104delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147368258 | ||||||
chr6:147368270 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3081+4104A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368270 | |||||||
chr6:147368321 | C | A | 21 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(18): Show |
21 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.3081+4155C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368321 | |||||||
chr6:147368346 | T | C | 2 | a0002c0002t0002g0092 a0002c0014t0002g0095 |
2 | NA18982.hp1 NA19000.hp2 |
intron_variant | MODIFIER | c.3081+4180T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368346 | |||||||
chr6:147368403 | A | T | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.3081+4237A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368403 | |||||||
chr6:147368490 | T | C | 3 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 |
3 | HG01081.hp2 HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.3081+4324T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368490 | |||||||
chr6:147368564 | A | G | 134 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(131): Show |
134 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(131): Show |
intron_variant | MODIFIER | c.3081+4398A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368564 | |||||||
chr6:147368598 | G | A | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3081+4432G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368598 | |||||||
chr6:147368671 | A | G | 1 | a0002c0002t0002g0067 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.3081+4505A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368671 | |||||||
chr6:147368892 | A | G | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3081+4726A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368892 | |||||||
chr6:147368936 | A | T | 1 | a0001c0001t0001g0199 | 1 | NA18612.hp1 | intron_variant | MODIFIER | c.3081+4770A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147368936 | |||||||
chr6:147369013 | C | T | 1 | a0002c0002t0002g0104 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3082-4718C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369013 | |||||||
chr6:147369294 | G | A | 5 | a0001c0001t0013g0177 a0001c0001t0013g0178 a0001c0001t0013g0184 others(2): Show |
5 | HG00323.hp2 HG01192.hp2 HG03834.hp2 others(2): Show |
intron_variant | MODIFIER | c.3082-4437G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369294 | |||||||
chr6:147369389 | C | A | 10 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(7): Show |
10 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(7): Show |
intron_variant | MODIFIER | c.3082-4342C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369389 | |||||||
chr6:147369429 | A | T | 1 | a0002c0002t0002g0109 | 1 | NA19058.hp1 | intron_variant | MODIFIER | c.3082-4302A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369429 | |||||||
chr6:147369472 | A | G | 57 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(54): Show |
57 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.3082-4259A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369472 | |||||||
chr6:147369507 | T | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3082-4224T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369507 | |||||||
chr6:147369593 | A | T | 2 | a0001c0001t0001g0228 a0001c0001t0001g0234 |
2 | HG02083.hp1 NA18961.hp1 |
intron_variant | MODIFIER | c.3082-4138A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369593 | |||||||
chr6:147369799 | A | G | 1 | a0001c0001t0001g0245 | 1 | HG01943.hp1 | intron_variant | MODIFIER | c.3082-3932A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369799 | |||||||
chr6:147369897 | T | G | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3082-3834T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369897 | |||||||
chr6:147369927 | T | A | 1 | a0001c0001t0003g0332 | 1 | HG01934.hp2 | intron_variant | MODIFIER | c.3082-3804T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369927 | |||||||
chr6:147369932 | TA | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3082-3796delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147369932 | ||||||
chr6:147369933 | A | T | 222 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(219): Show |
222 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(219): Show |
intron_variant | MODIFIER | c.3082-3798A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147369933 | |||||||
chr6:147370015 | C | T | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3082-3716C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370015 | |||||||
chr6:147370057 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3082-3674A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370057 | |||||||
chr6:147370232 | G | A | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3082-3499G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370232 | |||||||
chr6:147370235 | G | T | 1 | a0001c0001t0003g0326 | 1 | NA19070.hp2 | intron_variant | MODIFIER | c.3082-3496G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370235 | |||||||
chr6:147370351 | G | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3082-3380G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370351 | |||||||
chr6:147370551 | C | T | 60 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.3082-3180C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370551 | |||||||
chr6:147370571 | CTG | C | 4 | a0001c0006t0002g0004 a0001c0006t0002g0005 a0001c0006t0002g0006 others(1): Show |
4 | HG02896.hp1 HG02897.hp1 HG03540.hp1 others(1): Show |
intron_variant | MODIFIER | c.3082-3158_3082-315 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147370571 | ||||||
chr6:147370678 | G | T | 1 | a0002c0002t0002g0140 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3082-3053G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370678 | |||||||
chr6:147370679 | T | G | 1 | a0002c0002t0002g0140 | 1 | NA19091.hp1 | intron_variant | MODIFIER | c.3082-3052T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370679 | |||||||
chr6:147370907 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3082-2824A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370907 | |||||||
chr6:147370953 | C | T | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3082-2778C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370953 | |||||||
chr6:147370961 | T | C | 1 | a0002c0002t0002g0085 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.3082-2770T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147370961 | |||||||
chr6:147371245 | C | T | 60 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(57): Show |
60 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(57): Show |
intron_variant | MODIFIER | c.3082-2486C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371245 | |||||||
chr6:147371302 | T | C | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3082-2429T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371302 | |||||||
chr6:147371754 | C | A | 1 | a0001c0001t0001g0298 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.3082-1977C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371754 | |||||||
chr6:147371782 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3082-1949A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371782 | |||||||
chr6:147371824 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3082-1907C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371824 | |||||||
chr6:147371866 | C | T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3082-1865C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371866 | |||||||
chr6:147371884 | G | A | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3082-1847G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371884 | |||||||
chr6:147371967 | G | T | 1 | a0002c0002t0002g0081 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.3082-1764G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371967 | |||||||
chr6:147371979 | G | A | 8 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(5): Show |
8 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.3082-1752G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147371979 | |||||||
chr6:147372194 | T | G | 4 | a0001c0003t0002g0295 a0002c0002t0002g0103 a0002c0002t0002g0147 others(1): Show |
4 | HG00639.hp2 HG02004.hp2 HG02293.hp1 others(1): Show |
intron_variant | MODIFIER | c.3082-1537T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372194 | |||||||
chr6:147372239 | G | A | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3082-1492G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372239 | |||||||
chr6:147372254 | T | A | 1 | a0001c0003t0002g0011 | 1 | HG03041.hp2 | intron_variant | MODIFIER | c.3082-1477T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372254 | |||||||
chr6:147372303 | A | G | 1 | a0002c0002t0002g0076 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.3082-1428A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372303 | |||||||
chr6:147372401 | CTTTTCCT others(6): Show |
C | 1 | a0001c0001t0001g0247 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3082-1325_3082-131 others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147372401 | ||||||
chr6:147372405 | TC | T | 9 | a0001c0001t0001g0205 a0001c0001t0001g0244 a0001c0001t0001g0273 others(6): Show |
9 | HG01099.hp1 HG01192.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.3082-1324delC | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147372405 | ||||||
chr6:147372406 | C | CT | 6 | a0001c0001t0001g0264 a0001c0001t0001g0292 a0001c0001t0001g0294 others(3): Show |
6 | HG00639.hp1 HG01433.hp1 NA18940.hp2 others(3): Show |
intron_variant | MODIFIER | c.3082-1325_3082-132 others(5): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | C | CTT | 5 | a0001c0001t0001g0251 a0001c0001t0001g0265 a0001c0001t0001g0267 others(2): Show |
5 | HG01109.hp1 HG01261.hp2 NA18950.hp1 others(2): Show |
intron_variant | MODIFIER | c.3082-1325_3082-132 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | C | CTTT | 3 | a0001c0001t0001g0249 a0001c0001t0001g0280 a0001c0001t0001g0298 |
3 | NA19063.hp2 NA19065.hp2 NA19072.hp1 |
intron_variant | MODIFIER | c.3082-1325_3082-132 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | C | CTTTT | 6 | a0001c0001t0001g0207 a0001c0001t0001g0250 a0001c0001t0001g0279 others(3): Show |
6 | HG00621.hp1 HG00735.hp2 HG02273.hp2 others(3): Show |
intron_variant | MODIFIER | c.3082-1325_3082-132 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | C | CTTTTT | 4 | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0275 others(1): Show |
4 | HG01358.hp1 HG02148.hp2 HG02976.hp2 others(1): Show |
intron_variant | MODIFIER | c.3082-1325_3082-132 others(9): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | C | CTTTTTTT others(7): Show |
1 | a0001c0001t0001g0228 | 1 | NA18961.hp1 | intron_variant | MODIFIER | c.3082-1325_3082-132 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | C | CTTTTTTT others(13): Show |
1 | a0002c0002t0002g0076 | 1 | HG01123.hp1 | intron_variant | MODIFIER | c.3082-1325_3082-132 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCT | C | 7 | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 others(4): Show |
7 | HG01496.hp1 HG02083.hp1 HG02976.hp1 others(4): Show |
intron_variant | MODIFIER | c.3082-1324_3082-132 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTT | C | 14 | a0001c0001t0001g0215 a0001c0001t0001g0218 a0001c0001t0001g0219 others(11): Show |
14 | HG00558.hp2 HG00673.hp1 HG01256.hp2 others(11): Show |
intron_variant | MODIFIER | c.3082-1324_3082-132 others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTT | C | 15 | a0001c0001t0001g0197 a0001c0001t0001g0211 a0001c0001t0001g0212 others(12): Show |
15 | HG00099.hp1 HG01943.hp1 HG01993.hp2 others(12): Show |
intron_variant | MODIFIER | c.3082-1324_3082-132 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTT | C | 3 | a0001c0003t0009g0191 a0002c0002t0002g0131 a0002c0002t0008g0174 |
3 | HG02922.hp1 HG03017.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.3082-1324_3082-132 others(9): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTT | C | 6 | a0001c0001t0016g0046 a0001c0001t0034g0162 a0001c0003t0009g0187 others(3): Show |
6 | HG00099.hp2 HG02572.hp2 HG02886.hp2 others(3): Show |
intron_variant | MODIFIER | c.3082-1324_3082-131 others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(3): Show |
C | 1 | a0002c0002t0014g0157 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.3082-1324_3082-131 others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(4): Show |
C | 1 | a0001c0001t0001g0277 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.3082-1324_3082-131 others(15): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(5): Show |
C | 3 | a0002c0002t0002g0092 a0002c0002t0002g0159 a0002c0002t0008g0143 |
3 | HG02615.hp1 HG02965.hp2 NA19000.hp2 |
intron_variant | MODIFIER | c.3082-1324_3082-131 others(16): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(6): Show |
C | 3 | a0002c0002t0002g0160 a0002c0002t0002g0165 a0002c0002t0008g0142 |
3 | HG01517.hp1 HG03195.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.3082-1324_3082-131 others(17): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(7): Show |
C | 1 | a0001c0001t0001g0266 | 1 | NA18944.hp1 | intron_variant | MODIFIER | c.3082-1324_3082-131 others(18): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(8): Show |
C | 2 | a0001c0001t0001g0272 a0001c0001t0001g0288 |
2 | HG04228.hp2 NA18947.hp1 |
intron_variant | MODIFIER | c.3082-1324_3082-131 others(19): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(9): Show |
C | 1 | a0005c0010t0028g0224 | 1 | HG00738.hp1 | intron_variant | MODIFIER | c.3082-1324_3082-130 others(20): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(11): Show |
C | 3 | a0001c0001t0001g0237 a0001c0001t0001g0274 a0001c0001t0006g0152 |
3 | HG00280.hp2 HG01243.hp2 NA19064.hp1 |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(22): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(12): Show |
C | 4 | a0001c0004t0007g0013 a0002c0002t0002g0083 a0002c0002t0002g0121 others(1): Show |
4 | HG01175.hp2 HG02257.hp2 NA18998.hp2 others(1): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(23): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(13): Show |
C | 24 | a0001c0001t0006g0114 a0001c0001t0006g0115 a0001c0001t0006g0116 others(21): Show |
24 | HG00423.hp2 HG01192.hp2 HG01433.hp2 others(21): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(24): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(14): Show |
C | 67 | a0001c0001t0001g0221 a0001c0001t0001g0239 a0001c0001t0001g0246 others(64): Show |
67 | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(64): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(25): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(15): Show |
C | 13 | a0001c0001t0001g0241 a0001c0001t0001g0283 a0001c0001t0001g0285 others(10): Show |
13 | HG00323.hp1 HG00735.hp1 HG02083.hp2 others(10): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(26): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(16): Show |
C | 19 | a0001c0001t0001g0012 a0001c0001t0003g0339 a0001c0001t0003g0340 others(16): Show |
19 | HG01256.hp1 HG01515.hp1 HG02055.hp1 others(16): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(27): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(17): Show |
C | 62 | a0001c0001t0001g0001 a0001c0001t0001g0242 a0001c0001t0001g0270 others(59): Show |
62 | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(59): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(28): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(18): Show |
C | 7 | a0001c0001t0001g0204 a0001c0001t0003g0057 a0001c0001t0003g0307 others(4): Show |
7 | HG00544.hp1 HG01081.hp2 HG01243.hp1 others(4): Show |
intron_variant | MODIFIER | c.3082-1324_3082-130 others(29): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(19): Show |
C | 6 | a0001c0001t0001g0198 a0001c0001t0001g0268 a0002c0002t0002g0068 others(3): Show |
6 | HG00642.hp2 HG01346.hp1 HG01346.hp2 others(3): Show |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(30): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(20): Show |
C | 3 | a0001c0001t0001g0258 a0002c0002t0002g0071 a0002c0002t0029g0045 |
3 | HG01099.hp2 HG03225.hp2 NA19000.hp1 |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(31): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(21): Show |
C | 1 | a0001c0001t0001g0276 | 1 | HG00423.hp1 | intron_variant | MODIFIER | c.3082-1324_3082-129 others(32): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(22): Show |
C | 8 | a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 others(5): Show |
8 | NA18941.hp2 NA18953.hp1 NA18962.hp2 others(5): Show |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(33): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(23): Show |
C | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(34): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(24): Show |
C | 2 | a0001c0001t0001g0170 a0001c0001t0001g0236 |
2 | HG01071.hp1 HG02970.hp2 |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(35): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(25): Show |
C | 4 | a0001c0001t0001g0029 a0001c0001t0001g0231 a0001c0001t0001g0238 others(1): Show |
4 | HG02145.hp2 HG02965.hp1 NA18982.hp2 others(1): Show |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(36): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372406 | CCTTTTTT others(26): Show |
C | 8 | a0001c0001t0001g0214 a0002c0002t0002g0033 a0002c0002t0002g0134 others(5): Show |
8 | HG00738.hp2 HG01081.hp1 HG01891.hp1 others(5): Show |
intron_variant | MODIFIER | c.3082-1324_3082-129 others(37): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372406 | |||||||
chr6:147372407 | C | T | 37 | a0001c0001t0001g0054 a0001c0001t0001g0203 a0001c0001t0001g0206 others(34): Show |
37 | HG00140.hp2 HG00621.hp1 HG00639.hp1 others(34): Show |
intron_variant | MODIFIER | c.3082-1324C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372407 | |||||||
chr6:147372428 | T | C | 1 | a0001c0006t0002g0007 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.3082-1303T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372428 | |||||||
chr6:147372429 | T | C | 7 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(4): Show |
7 | HG01993.hp2 HG02486.hp2 HG02896.hp1 others(4): Show |
intron_variant | MODIFIER | c.3082-1302T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372429 | |||||||
chr6:147372480 | G | A | 1 | a0001c0001t0001g0029 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.3082-1251G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372480 | |||||||
chr6:147372591 | C | T | 1 | a0002c0002t0008g0311 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.3082-1140C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372591 | |||||||
chr6:147372626 | G | T | 2 | a0001c0006t0002g0005 a0001c0006t0002g0006 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.3082-1105G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147372626 | |||||||
chr6:147373091 | C | G | 1 | a0002c0002t0002g0154 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.3082-640C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147373091 | |||||||
chr6:147373198 | T | C | 129 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3082-533T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147373198 | |||||||
chr6:147373320 | C | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3082-411C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147373320 | |||||||
chr6:147373363 | C | CA | 29 | a0001c0001t0001g0207 a0001c0001t0001g0216 a0001c0001t0001g0220 others(26): Show |
29 | HG00438.hp2 HG00735.hp2 HG01099.hp1 others(26): Show |
intron_variant | MODIFIER | c.3082-343dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147373363 | ||||||
chr6:147373363 | CA | C | 180 | a0001c0001t0001g0277 a0001c0001t0001g0298 a0001c0001t0003g0002 others(177): Show |
180 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(177): Show |
intron_variant | MODIFIER | c.3082-343delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147373363 | ||||||
chr6:147373363 | CAA | C | 10 | a0001c0001t0003g0340 a0001c0004t0007g0013 a0001c0004t0007g0014 others(7): Show |
10 | HG01934.hp1 HG02257.hp2 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.3082-344_3082-343d others(4): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | INFO_REALIGN_3_PRIME | chr6 | 147373363 | ||||||
chr6:147373382 | A | C | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3082-349A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147373382 | |||||||
chr6:147373384 | A | C | 1 | a0001c0001t0012g0342 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3082-347A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147373384 | |||||||
chr6:147373443 | A | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3082-288A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 25/27 | chr6 | 147373443 | |||||||
chr6:147373915 | G | C | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.3193+73G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147373915 | |||||||
chr6:147374167 | A | G | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3193+325A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374167 | |||||||
chr6:147374334 | G | C | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3193+492G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374334 | |||||||
chr6:147374545 | G | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3193+703G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374545 | |||||||
chr6:147374582 | T | C | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3193+740T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374582 | |||||||
chr6:147374610 | C | T | 12 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(9): Show |
12 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(9): Show |
intron_variant | MODIFIER | c.3193+768C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374610 | |||||||
chr6:147374611 | G | A | 1 | a0002c0002t0002g0163 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.3193+769G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374611 | |||||||
chr6:147374825 | A | C | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.3193+983A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374825 | |||||||
chr6:147374905 | C | A | 6 | a0001c0001t0012g0034 a0001c0001t0012g0035 a0001c0001t0012g0342 others(3): Show |
6 | HG02559.hp1 HG03130.hp1 HG03209.hp2 others(3): Show |
intron_variant | MODIFIER | c.3193+1063C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374905 | |||||||
chr6:147374940 | A | G | 5 | a0002c0002t0004g0061 a0002c0002t0004g0097 a0002c0002t0004g0102 others(2): Show |
5 | NA18946.hp1 NA19003.hp1 NA19005.hp1 others(2): Show |
intron_variant | MODIFIER | c.3193+1098A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147374940 | |||||||
chr6:147375061 | C | T | 32 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(29): Show |
32 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(29): Show |
intron_variant | MODIFIER | c.3193+1219C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375061 | |||||||
chr6:147375137 | C | A | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3193+1295C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375137 | |||||||
chr6:147375378 | G | A | 1 | a0001c0001t0003g0060 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.3193+1536G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375378 | |||||||
chr6:147375411 | A | G | 2 | a0001c0001t0001g0215 a0001c0001t0001g0217 |
2 | NA18969.hp1 NA19062.hp1 |
intron_variant | MODIFIER | c.3193+1569A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375411 | |||||||
chr6:147375485 | T | C | 57 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(54): Show |
57 | HG00438.hp1 HG00544.hp2 HG00621.hp2 others(54): Show |
intron_variant | MODIFIER | c.3193+1643T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375485 | |||||||
chr6:147375675 | A | T | 1 | a0001c0001t0003g0344 | 1 | HG01496.hp2 | intron_variant | MODIFIER | c.3193+1833A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375675 | |||||||
chr6:147375730 | A | T | 1 | a0001c0001t0018g0336 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3193+1888A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375730 | |||||||
chr6:147375986 | C | T | 1 | a0002c0002t0008g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3193+2144C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147375986 | |||||||
chr6:147376014 | T | A | 1 | a0002c0002t0002g0084 | 1 | HG02132.hp1 | intron_variant | MODIFIER | c.3193+2172T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147376014 | |||||||
chr6:147376304 | T | A | 6 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(3): Show |
6 | HG02109.hp1 HG02258.hp2 HG02922.hp1 others(3): Show |
intron_variant | MODIFIER | c.3193+2462T>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147376304 | |||||||
chr6:147376546 | G | A | 5 | a0001c0001t0001g0029 a0003c0005t0015g0179 a0003c0005t0015g0180 others(2): Show |
5 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(2): Show |
intron_variant | MODIFIER | c.3193+2704G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147376546 | |||||||
chr6:147376950 | A | G | 1 | a0002c0002t0014g0156 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.3193+3108A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147376950 | |||||||
chr6:147377000 | A | G | 1 | a0001c0001t0001g0268 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.3193+3158A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377000 | |||||||
chr6:147377008 | T | C | 1 | a0001c0001t0001g0170 | 1 | HG02970.hp2 | intron_variant | MODIFIER | c.3193+3166T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377008 | |||||||
chr6:147377269 | A | G | 1 | a0002c0002t0008g0248 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.3193+3427A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377269 | |||||||
chr6:147377641 | T | C | 3 | a0001c0001t0001g0214 a0001c0001t0001g0231 a0001c0001t0001g0238 |
3 | NA18946.hp2 NA18982.hp2 NA19011.hp1 |
intron_variant | MODIFIER | c.3193+3799T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377641 | |||||||
chr6:147377649 | A | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3193+3807A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377649 | |||||||
chr6:147377705 | A | G | 1 | a0001c0001t0036g0169 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.3193+3863A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377705 | |||||||
chr6:147377707 | A | G | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3193+3865A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377707 | |||||||
chr6:147377728 | A | G | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3193+3886A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377728 | |||||||
chr6:147377730 | G | C | 3 | a0001c0007t0019g0308 a0001c0007t0019g0309 a0001c0007t0019g0310 |
3 | HG02451.hp1 HG02559.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.3193+3888G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377730 | |||||||
chr6:147377779 | A | G | 1 | a0002c0002t0002g0101 | 1 | NA19075.hp1 | intron_variant | MODIFIER | c.3193+3937A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377779 | |||||||
chr6:147377848 | G | T | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.3193+4006G>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377848 | |||||||
chr6:147377987 | C | A | 161 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(158): Show |
161 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(158): Show |
intron_variant | MODIFIER | c.3193+4145C>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147377987 | |||||||
chr6:147378180 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3193+4338T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378180 | |||||||
chr6:147378400 | A | T | 1 | a0001c0001t0012g0035 | 1 | HG03540.hp2 | intron_variant | MODIFIER | c.3194-4378A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378400 | |||||||
chr6:147378409 | T | TA | 16 | a0001c0001t0003g0145 a0001c0001t0003g0329 a0001c0001t0003g0330 others(13): Show |
16 | HG01109.hp2 HG02109.hp1 HG02258.hp2 others(13): Show |
intron_variant | MODIFIER | c.3194-4350dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147378409 | ||||||
chr6:147378409 | TA | T | 152 | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0029 others(149): Show |
152 | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(149): Show |
intron_variant | MODIFIER | c.3194-4350delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147378409 | ||||||
chr6:147378438 | G | A | 1 | a0001c0001t0003g0307 | 1 | NA18939.hp1 | intron_variant | MODIFIER | c.3194-4340G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378438 | |||||||
chr6:147378627 | T | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3194-4151T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378627 | |||||||
chr6:147378707 | A | T | 1 | a0001c0001t0005g0041 | 1 | HG02055.hp2 | intron_variant | MODIFIER | c.3194-4071A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378707 | |||||||
chr6:147378720 | T | C | 1 | a0001c0001t0001g0212 | 1 | HG00099.hp1 | intron_variant | MODIFIER | c.3194-4058T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378720 | |||||||
chr6:147378927 | T | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3194-3851T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147378927 | |||||||
chr6:147379034 | A | AT | 3 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 |
3 | HG01081.hp2 HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.3194-3742dupT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147379034 | ||||||
chr6:147379082 | A | C | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3194-3696A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379082 | |||||||
chr6:147379107 | G | GA | 238 | a0001c0001t0001g0012 a0001c0001t0001g0029 a0001c0001t0001g0170 others(235): Show |
238 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(235): Show |
intron_variant | MODIFIER | c.3194-3659dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147379107 | ||||||
chr6:147379120 | C | T | 1 | a0002c0002t0008g0174 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.3194-3658C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379120 | |||||||
chr6:147379287 | G | A | 1 | a0001c0001t0023g0018 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3194-3491G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379287 | |||||||
chr6:147379349 | A | C | 1 | a0006c0015t0027g0036 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.3194-3429A>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379349 | |||||||
chr6:147379389 | T | C | 3 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 |
3 | HG01993.hp2 HG02486.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3194-3389T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379389 | |||||||
chr6:147379416 | G | C | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3194-3362G>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379416 | |||||||
chr6:147379496 | T | C | 1 | a0002c0002t0029g0045 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.3194-3282T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379496 | |||||||
chr6:147379517 | C | G | 1 | a0002c0002t0002g0003 | 1 | HG03831.hp2 | intron_variant | MODIFIER | c.3194-3261C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379517 | |||||||
chr6:147379782 | GT | G | 3 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 |
3 | HG01081.hp2 HG03130.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.3194-2992delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147379782 | ||||||
chr6:147379801 | AT | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3194-2976delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379801 | |||||||
chr6:147379997 | T | G | 225 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(222): Show |
225 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.3194-2781T>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147379997 | |||||||
chr6:147380081 | A | G | 193 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(190): Show |
193 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(190): Show |
intron_variant | MODIFIER | c.3194-2697A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380081 | |||||||
chr6:147380085 | A | G | 225 | a0001c0001t0003g0002 a0001c0001t0003g0021 a0001c0001t0003g0022 others(222): Show |
225 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(222): Show |
intron_variant | MODIFIER | c.3194-2693A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380085 | |||||||
chr6:147380173 | T | TAC | 96 | a0001c0001t0001g0001 a0001c0001t0001g0170 a0001c0001t0001g0198 others(93): Show |
96 | HG00280.hp2 HG00323.hp2 HG00544.hp2 others(93): Show |
intron_variant | MODIFIER | c.3194-2569_3194-256 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380173 | T | TACAC | 24 | a0001c0001t0003g0325 a0001c0001t0003g0332 a0001c0003t0009g0186 others(21): Show |
24 | HG00438.hp1 HG01109.hp2 HG01934.hp2 others(21): Show |
intron_variant | MODIFIER | c.3194-2571_3194-256 others(8): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380173 | T | TACACAC | 4 | a0001c0001t0018g0334 a0001c0001t0018g0335 a0001c0001t0018g0336 others(1): Show |
4 | HG01081.hp2 HG03130.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.3194-2573_3194-256 others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380173 | TAC | T | 25 | a0001c0001t0001g0306 a0001c0001t0003g0057 a0001c0001t0005g0038 others(22): Show |
25 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(22): Show |
intron_variant | MODIFIER | c.3194-2569_3194-256 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380173 | TACACAC | T | 10 | a0002c0002t0002g0027 a0002c0002t0002g0065 a0002c0002t0002g0069 others(7): Show |
10 | HG00423.hp2 HG03688.hp2 HG03834.hp1 others(7): Show |
intron_variant | MODIFIER | c.3194-2573_3194-256 others(10): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380173 | TACACACA others(1): Show |
T | 94 | a0001c0001t0001g0293 a0001c0003t0002g0295 a0002c0002t0002g0024 others(91): Show |
94 | HG00099.hp2 HG00280.hp1 HG00558.hp1 others(91): Show |
intron_variant | MODIFIER | c.3194-2575_3194-256 others(12): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380173 | TACACACA others(3): Show |
T | 1 | a0001c0001t0001g0012 | 1 | HG03098.hp1 | intron_variant | MODIFIER | c.3194-2577_3194-256 others(14): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380173 | ||||||
chr6:147380395 | C | T | 5 | a0001c0001t0001g0054 a0001c0001t0001g0200 a0001c0001t0001g0201 others(2): Show |
5 | NA18968.hp2 NA18982.hp2 NA18985.hp2 others(2): Show |
intron_variant | MODIFIER | c.3194-2383C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380395 | |||||||
chr6:147380448 | A | G | 1 | a0001c0001t0006g0114 | 1 | NA18961.hp2 | intron_variant | MODIFIER | c.3194-2330A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380448 | |||||||
chr6:147380453 | C | CA | 12 | a0001c0001t0001g0228 a0001c0001t0001g0265 a0001c0001t0003g0002 others(9): Show |
12 | HG01109.hp2 HG02055.hp2 HG02056.hp1 others(9): Show |
intron_variant | MODIFIER | c.3194-2308dupA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380453 | ||||||
chr6:147380645 | G | A | 10 | a0001c0001t0005g0038 a0001c0001t0005g0040 a0001c0001t0005g0041 others(7): Show |
10 | HG02055.hp2 HG02723.hp2 HG02895.hp2 others(7): Show |
intron_variant | MODIFIER | c.3194-2133G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380645 | |||||||
chr6:147380645 | GA | G | 18 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(15): Show |
18 | HG00323.hp2 HG01192.hp2 HG01255.hp2 others(15): Show |
intron_variant | MODIFIER | c.3194-2123delA | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380645 | ||||||
chr6:147380645 | GAA | G | 9 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(6): Show |
9 | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(6): Show |
intron_variant | MODIFIER | c.3194-2124_3194-212 others(6): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147380645 | ||||||
chr6:147380962 | A | G | 31 | a0001c0001t0006g0087 a0001c0001t0006g0114 a0001c0001t0006g0115 others(28): Show |
31 | HG00323.hp2 HG01109.hp2 HG01192.hp2 others(28): Show |
intron_variant | MODIFIER | c.3194-1816A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380962 | |||||||
chr6:147380978 | G | A | 11 | a0001c0004t0007g0013 a0001c0004t0007g0014 a0001c0004t0007g0015 others(8): Show |
11 | HG01255.hp1 HG01433.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.3194-1800G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147380978 | |||||||
chr6:147381011 | A | G | 103 | a0001c0003t0002g0295 a0002c0002t0002g0024 a0002c0002t0002g0025 others(100): Show |
103 | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(100): Show |
intron_variant | MODIFIER | c.3194-1767A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147381011 | |||||||
chr6:147381023 | A | T | 3 | a0001c0001t0001g0241 a0001c0001t0022g0271 a0001c0001t0022g0296 |
3 | HG02132.hp2 NA18967.hp2 NA19064.hp2 |
intron_variant | MODIFIER | c.3194-1755A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147381023 | |||||||
chr6:147381450 | G | A | 2 | a0002c0002t0014g0019 a0002c0002t0014g0020 |
2 | HG02055.hp1 NA19043.hp1 |
intron_variant | MODIFIER | c.3194-1328G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147381450 | |||||||
chr6:147381538 | C | T | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3194-1240C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147381538 | |||||||
chr6:147381592 | T | C | 1 | a0002c0002t0020g0146 | 1 | HG01515.hp1 | intron_variant | MODIFIER | c.3194-1186T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147381592 | |||||||
chr6:147381695 | C | T | 1 | a0001c0001t0001g0215 | 1 | NA18969.hp1 | intron_variant | MODIFIER | c.3194-1083C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147381695 | |||||||
chr6:147382163 | A | T | 129 | a0001c0003t0002g0008 a0001c0003t0002g0009 a0001c0003t0002g0010 others(126): Show |
129 | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(126): Show |
intron_variant | MODIFIER | c.3194-615A>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147382163 | |||||||
chr6:147382271 | AT | A | 6 | a0001c0003t0009g0186 a0001c0003t0009g0187 a0001c0003t0009g0188 others(3): Show |
6 | HG02717.hp2 HG02723.hp1 HG02895.hp1 others(3): Show |
intron_variant | MODIFIER | c.3194-502delT | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | 147382271 | ||||||
chr6:147382391 | G | A | 1 | a0002c0002t0008g0143 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.3194-387G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147382391 | |||||||
chr6:147382566 | G | A | 9 | a0002c0002t0002g0003 a0002c0002t0002g0030 a0002c0002t0002g0031 others(6): Show |
9 | HG00140.hp1 HG00642.hp1 HG00741.hp2 others(6): Show |
intron_variant | MODIFIER | c.3194-212G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147382566 | |||||||
chr6:147382710 | T | C | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3194-68T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 26/27 | chr6 | 147382710 | |||||||
chr6:147383019 | T | C | 2 | a0001c0001t0003g0329 a0001c0001t0003g0330 |
2 | HG03490.hp2 HG03492.hp2 |
intron_variant | MODIFIER | c.3414+21T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383019 | |||||||
chr6:147383254 | C | G | 4 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(1): Show |
4 | HG01109.hp2 HG02647.hp1 HG02886.hp1 others(1): Show |
intron_variant | MODIFIER | c.3414+256C>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383254 | |||||||
chr6:147383283 | G | A | 5 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(2): Show |
5 | HG01109.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.3414+285G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383283 | |||||||
chr6:147383497 | A | G | 5 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(2): Show |
5 | HG01109.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.3414+499A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383497 | |||||||
chr6:147383535 | C | T | 1 | a0002c0002t0002g0032 | 1 | HG02630.hp1 | intron_variant | MODIFIER | c.3414+537C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383535 | |||||||
chr6:147383540 | A | ACTGGC | 5 | a0002c0002t0008g0142 a0002c0002t0008g0143 a0002c0002t0008g0173 others(2): Show |
5 | HG02258.hp2 HG02922.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.3414+544_3414+548d others(7): Show |
STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr6 | 147383540 | ||||||
chr6:147383595 | C | T | 3 | a0002c0002t0002g0134 a0002c0002t0002g0135 a0002c0002t0002g0136 |
3 | HG00738.hp2 HG01081.hp1 HG02145.hp2 |
intron_variant | MODIFIER | c.3414+597C>T | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383595 | |||||||
chr6:147383693 | G | A | 4 | a0001c0003t0002g0295 a0002c0002t0002g0103 a0002c0002t0002g0147 others(1): Show |
4 | HG00639.hp2 HG02004.hp2 HG02293.hp1 others(1): Show |
intron_variant | MODIFIER | c.3414+695G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383693 | |||||||
chr6:147383834 | G | A | 2 | a0002c0002t0002g0108 a0002c0002t0002g0126 |
2 | NA18939.hp2 NA18941.hp1 |
intron_variant | MODIFIER | c.3414+836G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147383834 | |||||||
chr6:147384186 | G | A | 1 | a0002c0002t0002g0106 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3415-528G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147384186 | |||||||
chr6:147384306 | A | G | 1 | a0001c0001t0001g0250 | 1 | HG00621.hp1 | intron_variant | MODIFIER | c.3415-408A>G | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147384306 | |||||||
chr6:147384344 | T | C | 5 | a0003c0005t0015g0179 a0003c0005t0015g0180 a0003c0005t0015g0182 others(2): Show |
5 | HG01109.hp2 HG02572.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.3415-370T>C | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147384344 | |||||||
chr6:147384396 | G | A | 1 | a0002c0002t0002g0128 | 1 | NA18971.hp1 | intron_variant | MODIFIER | c.3415-318G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147384396 | |||||||
chr6:147384635 | G | A | 1 | a0002c0002t0002g0075 | 1 | HG00642.hp2 | intron_variant | MODIFIER | c.3415-79G>A | STXBP5 | ENSG00000164506.16 | transcript | ENST00000321680.11 | protein_coding | 27/27 | chr6 | 147384635 |