Item | Value |
---|---|
geneid | 10513 |
ensemblid | ENSG00000062725.10 |
hgncid | 622 |
symbol | APPBP2 |
name | amyloid beta precursor protein binding protein 2 |
refseq_nuc | NM_006380.5 |
refseq_prot | NP_006371.2 |
ensembl_nuc | ENST00000083182.8 |
ensembl_prot | ENSP00000083182.3 |
mane_status | MANE Select |
chr | chr17 |
start | 60443158 |
end | 60526242 |
strand | - |
ver | v1.2 |
region | chr17:60443158-60526242 |
region5000 | chr17:60438158-60531242 |
regionname0 | APPBP2_chr17_60443158_60526242 |
regionname5000 | APPBP2_chr17_60438158_60531242 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 585 | 102 | 38 | 22 | 38 | 0 | 4 | 22 | APPBP2_chr17_60438158_60531242 | APPBP2 | MAAVE others(580): Show |
chr17 | 60438158 | 60531242 |
a0002 | 0/0 | 585 | 42 | 36 | 6 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | MAAVE others(580): Show |
chr17 | 60438158 | 60531242 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1755 | 102 | 38 | 22 | 38 | 0 | 4 | APPBP2_chr17_60438158_60531242 | APPBP2 | ATGGC others(1750): Show |
chr17 | 60438158 | 60531242 | ||
a0002c0002 | 0/0 | 1755 | 25 | 20 | 5 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | ATGGC others(1750): Show |
chr17 | 60438158 | 60531242 | ||
a0002c0003 | 0/0 | 1755 | 17 | 16 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | ATGGC others(1750): Show |
chr17 | 60438158 | 60531242 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 6492 | 48 | 10 | 17 | 20 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0002 | 0/0 | 6492 | 17 | 0 | 3 | 13 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0005 | 0/0 | 6493 | 7 | 7 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0006 | 0/0 | 6493 | 6 | 6 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0011 | 0/0 | 6493 | 3 | 3 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0012 | 0/0 | 6492 | 3 | 3 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0015 | 0/0 | 6493 | 2 | 2 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0021 | 0/0 | 6493 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0022 | 0/0 | 6492 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0023 | 0/0 | 6492 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0024 | 0/0 | 6493 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0026 | 0/0 | 6492 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0028 | 0/0 | 6493 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0029 | 0/0 | 6493 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0030 | 0/0 | 6493 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0031 | 0/0 | 6492 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0032 | 0/0 | 6492 | 1 | 0 | 0 | 0 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0033 | 0/0 | 6492 | 1 | 0 | 0 | 0 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0034 | 0/0 | 6493 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0035 | 0/0 | 6492 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0036 | 0/0 | 6492 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0037 | 0/0 | 6492 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0001c0001t0038 | 0/0 | 6492 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0003 | 0/0 | 6494 | 8 | 6 | 2 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6489): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0004 | 0/0 | 6493 | 7 | 5 | 2 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0009 | 0/0 | 6492 | 3 | 3 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0014 | 0/0 | 6492 | 2 | 2 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0018 | 0/0 | 6492 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0019 | 0/0 | 6492 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0020 | 0/0 | 6492 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0025 | 0/0 | 6493 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6488): Show |
chr17 | 60438158 | 60531242 |
a0002c0002t0027 | 0/0 | 6492 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0007 | 0/0 | 6492 | 5 | 5 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0008 | 0/0 | 6492 | 3 | 2 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0010 | 0/0 | 6491 | 3 | 3 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6486): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0013 | 0/0 | 6492 | 2 | 2 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0016 | 0/0 | 6492 | 2 | 2 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0017 | 0/0 | 6492 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6487): Show |
chr17 | 60438158 | 60531242 |
a0002c0003t0039 | 0/0 | 6491 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | GCACA others(6486): Show |
chr17 | 60438158 | 60531242 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0066 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0067 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0069 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0070 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0074 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0076 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0077 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0079 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0082 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0084 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0086 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0087 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0093 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0094 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0096 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0097 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0101 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0102 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0103 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0104 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0105 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0108 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0109 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0111 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0112 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0114 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0115 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0118 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0120 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0124 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0125 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0126 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0128 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0129 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0130 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0131 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0135 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0001g0136 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0085 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0106 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0110 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0117 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0119 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0121 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0122 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0123 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0127 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0132 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0002g0133 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0061 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0062 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0065 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0005g0137 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0006g0042 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0006g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0006g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0006g0047 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0006g0048 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0006g0049 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0011g0055 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0011g0057 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0011g0058 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0012g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0012g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0012g0134 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0015g0051 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0015g0052 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0021g0054 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0022g0078 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0023g0040 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0024g0050 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0026g0053 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0028g0056 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0029g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0030g0043 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0031g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0032g0068 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0033g0088 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0034g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0035g0091 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0036g0113 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0037g0072 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0001c0001t0038g0107 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0003g0001 | 0/0 | 3 | 3 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0003g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0003g0027 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0003g0028 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0003g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0003g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0033 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0035 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0036 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0037 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0038 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0004g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0009g0011 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0009g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0009g0019 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0014g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0014g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0018g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0019g0023 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0020g0018 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0025g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0002t0027g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0007g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0007g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0007g0015 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0007g0016 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0007g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0008g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0008g0006 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0008g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0010g0010 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0010g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0010g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0013g0024 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0013g0025 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0016g0138 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0016g0139 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0017g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
a0002c0003t0039g0140 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00558 | hp1 | a0001 | c0001 | t0002 | g0119 | EAS | CHS | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00558 | hp2 | a0001 | c0001 | t0001 | g0080 | EAS | CHS | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00609 | hp1 | a0001 | c0001 | t0002 | g0003 | EAS | CHS | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00609 | hp2 | a0001 | c0001 | t0001 | g0135 | EAS | CHS | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00639 | hp1 | a0001 | c0001 | t0001 | g0074 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00639 | hp2 | a0002 | c0002 | t0018 | g0022 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00673 | hp1 | a0001 | c0001 | t0001 | g0114 | EAS | CHS | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00673 | hp2 | a0001 | c0001 | t0002 | g0003 | EAS | CHS | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00741 | hp1 | a0001 | c0001 | t0001 | g0095 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG00741 | hp2 | a0001 | c0001 | t0037 | g0072 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01071 | hp1 | a0001 | c0001 | t0002 | g0110 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01071 | hp2 | a0001 | c0001 | t0001 | g0094 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01099 | hp1 | a0002 | c0002 | t0003 | g0028 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01099 | hp2 | a0001 | c0001 | t0001 | g0111 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01109 | hp1 | a0002 | c0003 | t0008 | g0007 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01109 | hp2 | a0001 | c0001 | t0001 | g0118 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01168 | hp1 | a0001 | c0001 | t0001 | g0075 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01168 | hp2 | a0002 | c0002 | t0004 | g0038 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01243 | hp1 | a0002 | c0002 | t0004 | g0035 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01243 | hp2 | a0001 | c0001 | t0001 | g0104 | AMR | PUR | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01257 | hp1 | a0001 | c0001 | t0002 | g0132 | AMR | CLM | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01257 | hp2 | a0001 | c0001 | t0001 | g0071 | AMR | CLM | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01258 | hp1 | a0001 | c0001 | t0001 | g0126 | AMR | CLM | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01258 | hp2 | a0001 | c0001 | t0002 | g0133 | AMR | CLM | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01346 | hp1 | a0001 | c0001 | t0028 | g0056 | AMR | CLM | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01346 | hp2 | a0001 | c0001 | t0001 | g0129 | AMR | CLM | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01884 | hp1 | a0001 | c0001 | t0024 | g0050 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01884 | hp2 | a0001 | c0001 | t0023 | g0040 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01891 | hp1 | a0002 | c0002 | t0014 | g0020 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01891 | hp2 | a0001 | c0001 | t0006 | g0049 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01952 | hp1 | a0002 | c0002 | t0003 | g0027 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01952 | hp2 | a0001 | c0001 | t0001 | g0125 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0070 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0081 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02004 | hp1 | a0001 | c0001 | t0001 | g0112 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02004 | hp2 | a0001 | c0001 | t0001 | g0093 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02027 | hp1 | a0001 | c0001 | t0001 | g0079 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02027 | hp2 | a0001 | c0001 | t0038 | g0107 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02055 | hp1 | a0001 | c0001 | t0006 | g0048 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02055 | hp2 | a0002 | c0003 | t0016 | g0139 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02056 | hp1 | a0001 | c0001 | t0002 | g0085 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02056 | hp2 | a0001 | c0001 | t0001 | g0090 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02071 | hp1 | a0001 | c0001 | t0002 | g0106 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02071 | hp2 | a0001 | c0001 | t0035 | g0091 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02080 | hp1 | a0001 | c0001 | t0001 | g0115 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02080 | hp2 | a0001 | c0001 | t0001 | g0108 | EAS | KHV | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02145 | hp1 | a0001 | c0001 | t0001 | g0097 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02145 | hp2 | a0002 | c0003 | t0039 | g0140 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02148 | hp1 | a0001 | c0001 | t0001 | g0098 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02148 | hp2 | a0001 | c0001 | t0001 | g0102 | AMR | PEL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02280 | hp1 | a0001 | c0001 | t0001 | g0084 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02280 | hp2 | a0001 | c0001 | t0034 | g0045 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02451 | hp1 | a0001 | c0001 | t0006 | g0042 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02451 | hp2 | a0001 | c0001 | t0030 | g0043 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02572 | hp1 | a0002 | c0002 | t0004 | g0039 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02572 | hp2 | a0001 | c0001 | t0005 | g0062 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02622 | hp1 | a0001 | c0001 | t0026 | g0053 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02622 | hp2 | a0001 | c0001 | t0001 | g0101 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02717 | hp1 | a0001 | c0001 | t0021 | g0054 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02717 | hp2 | a0001 | c0001 | t0015 | g0051 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02723 | hp1 | a0002 | c0002 | t0004 | g0036 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02723 | hp2 | a0002 | c0003 | t0017 | g0004 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02735 | hp1 | a0001 | c0001 | t0032 | g0068 | SAS | PJL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02735 | hp2 | a0001 | c0001 | t0001 | g0067 | SAS | PJL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02809 | hp1 | a0002 | c0003 | t0008 | g0006 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02809 | hp2 | a0001 | c0001 | t0005 | g0064 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02886 | hp1 | a0002 | c0003 | t0007 | g0009 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02886 | hp2 | a0002 | c0002 | t0003 | g0001 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02895 | hp1 | a0001 | c0001 | t0001 | g0087 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02895 | hp2 | a0001 | c0001 | t0012 | g0134 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02896 | hp1 | a0002 | c0003 | t0013 | g0025 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02896 | hp2 | a0002 | c0003 | t0007 | g0017 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02897 | hp1 | a0002 | c0003 | t0013 | g0024 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02897 | hp2 | a0001 | c0001 | t0012 | g0116 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02965 | hp1 | a0001 | c0001 | t0011 | g0058 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02965 | hp2 | a0002 | c0002 | t0025 | g0031 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03041 | hp1 | a0002 | c0002 | t0004 | g0033 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03041 | hp2 | a0002 | c0003 | t0010 | g0014 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03098 | hp1 | a0002 | c0002 | t0009 | g0013 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03098 | hp2 | a0002 | c0003 | t0010 | g0012 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03139 | hp1 | a0002 | c0002 | t0003 | g0001 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03139 | hp2 | a0001 | c0001 | t0005 | g0060 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03195 | hp1 | a0002 | c0002 | t0003 | g0001 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03195 | hp2 | a0001 | c0001 | t0011 | g0055 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03209 | hp1 | a0001 | c0001 | t0005 | g0065 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03209 | hp2 | a0002 | c0002 | t0009 | g0011 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03225 | hp1 | a0001 | c0001 | t0006 | g0046 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03225 | hp2 | a0002 | c0002 | t0003 | g0026 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03453 | hp1 | a0002 | c0002 | t0004 | g0037 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03453 | hp2 | a0002 | c0002 | t0027 | g0032 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03486 | hp1 | a0001 | c0001 | t0006 | g0047 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03486 | hp2 | a0002 | c0003 | t0007 | g0008 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03516 | hp1 | a0002 | c0003 | t0007 | g0015 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03516 | hp2 | a0001 | c0001 | t0001 | g0105 | AFR | ESN | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03540 | hp1 | a0001 | c0001 | t0006 | g0044 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03540 | hp2 | a0002 | c0002 | t0014 | g0021 | AFR | GWD | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03579 | hp1 | a0002 | c0003 | t0008 | g0005 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03579 | hp2 | a0002 | c0002 | t0003 | g0029 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03704 | hp1 | a0001 | c0001 | t0002 | g0092 | SAS | PJL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03704 | hp2 | a0001 | c0001 | t0033 | g0088 | SAS | PJL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18522 | hp1 | a0002 | c0002 | t0003 | g0030 | AFR | YRI | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18522 | hp2 | a0002 | c0003 | t0010 | g0010 | AFR | YRI | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18747 | hp1 | a0001 | c0001 | t0001 | g0077 | EAS | CHB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18747 | hp2 | a0001 | c0001 | t0001 | g0103 | EAS | CHB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18906 | hp1 | a0002 | c0003 | t0016 | g0138 | AFR | YRI | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18906 | hp2 | a0001 | c0001 | t0029 | g0059 | AFR | YRI | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18941 | hp1 | a0001 | c0001 | t0001 | g0131 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18941 | hp2 | a0001 | c0001 | t0002 | g0117 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18968 | hp1 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18968 | hp2 | a0001 | c0001 | t0001 | g0083 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18971 | hp1 | a0001 | c0001 | t0002 | g0123 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18971 | hp2 | a0001 | c0001 | t0001 | g0124 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18983 | hp1 | a0001 | c0001 | t0001 | g0109 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18983 | hp2 | a0001 | c0001 | t0001 | g0076 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18985 | hp1 | a0001 | c0001 | t0001 | g0099 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18985 | hp2 | a0001 | c0001 | t0036 | g0113 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18995 | hp1 | a0001 | c0001 | t0001 | g0130 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18995 | hp2 | a0001 | c0001 | t0001 | g0120 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19007 | hp1 | a0001 | c0001 | t0002 | g0121 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19007 | hp2 | a0001 | c0001 | t0022 | g0078 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19011 | hp1 | a0001 | c0001 | t0001 | g0128 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19011 | hp2 | a0001 | c0001 | t0002 | g0041 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19030 | hp1 | a0001 | c0001 | t0001 | g0069 | AFR | LWK | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19030 | hp2 | a0002 | c0002 | t0019 | g0023 | AFR | LWK | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19056 | hp1 | a0001 | c0001 | t0002 | g0127 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19056 | hp2 | a0001 | c0001 | t0002 | g0002 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19074 | hp1 | a0001 | c0001 | t0001 | g0066 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19074 | hp2 | a0001 | c0001 | t0031 | g0100 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19240 | hp1 | a0002 | c0002 | t0020 | g0018 | AFR | YRI | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA19240 | hp2 | a0001 | c0001 | t0012 | g0073 | AFR | YRI | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02109 | hp1 | a0001 | c0001 | t0001 | g0096 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02109 | hp2 | a0001 | c0001 | t0005 | g0137 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02559 | hp1 | a0001 | c0001 | t0001 | g0136 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG02559 | hp2 | a0001 | c0001 | t0015 | g0052 | AFR | ACB | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03471 | hp1 | a0001 | c0001 | t0005 | g0063 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG03471 | hp2 | a0002 | c0003 | t0007 | g0016 | AFR | MSL | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG06807 | hp1 | a0001 | c0001 | t0001 | g0086 | AFR | USA | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
HG06807 | hp2 | a0001 | c0001 | t0005 | g0061 | AFR | USA | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18955 | hp1 | a0001 | c0001 | t0002 | g0122 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA18955 | hp2 | a0001 | c0001 | t0001 | g0089 | EAS | JPT | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA20300 | hp1 | a0002 | c0002 | t0004 | g0034 | AFR | USA | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA20300 | hp2 | a0001 | c0001 | t0001 | g0082 | AFR | USA | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA21309 | hp1 | a0001 | c0001 | t0011 | g0057 | AFR | LWK | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
NA21309 | hp2 | a0002 | c0002 | t0009 | g0019 | AFR | LWK | APPBP2_chr17_60438158_60531242 | APPBP2 | chr17 | 60438158 | 60531242 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:60447657 | C | T | 1 | a0002 | 42 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(39): Show |
missense_variant | MODERATE | c.1682G>A | p.Ser561Asn | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1993/6492 | 1682/1758 | 561/585 | chr17 | 60447657 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:60452040 | A | G | 1 | a0002c0003 | 17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
synonymous_variant | LOW | c.1344T>C | p.Ala448Ala | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/13 | 1655/6492 | 1344/1758 | 448/585 | chr17 | 60452040 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:60443283 | C | T | 1 | a0001c0001t0031 | 1 | NA19074.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4298G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 4298 | chr17 | 60443283 | ||||||
chr17:60443449 | A | G | 1 | a0001c0001t0022 | 1 | NA19007.hp2 | 3_prime_UTR_variant | MODIFIER | c.*4132T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 4132 | chr17 | 60443449 | ||||||
chr17:60443467 | A | G | 10 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 others(7): Show |
24 | HG01346.hp1 HG01891.hp2 HG02055.hp1 others(21): Show |
3_prime_UTR_variant | MODIFIER | c.*4114T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 4114 | chr17 | 60443467 | ||||||
chr17:60443678 | A | G | 19 | a0001c0001t0011 a0001c0001t0012 a0001c0001t0024 others(16): Show |
47 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(44): Show |
3_prime_UTR_variant | MODIFIER | c.*3903T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3903 | chr17 | 60443678 | ||||||
chr17:60443971 | A | C | 16 | a0001c0001t0015 a0001c0001t0029 a0001c0001t0034 others(13): Show |
37 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(34): Show |
3_prime_UTR_variant | MODIFIER | c.*3610T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3610 | chr17 | 60443971 | ||||||
chr17:60443989 | G | A | 1 | a0001c0001t0032 | 1 | HG02735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*3592C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3592 | chr17 | 60443989 | ||||||
chr17:60444043 | G | A | 1 | a0001c0001t0037 | 1 | HG00741.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3538C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3538 | chr17 | 60444043 | ||||||
chr17:60444081 | C | T | 6 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(3): Show |
19 | HG01346.hp1 HG01891.hp2 HG02055.hp1 others(16): Show |
3_prime_UTR_variant | MODIFIER | c.*3500G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3500 | chr17 | 60444081 | ||||||
chr17:60444129 | G | GA | 23 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(20): Show |
61 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(58): Show |
3_prime_UTR_variant | MODIFIER | c.*3451dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3451 | chr17 | 60444129 | ||||||
chr17:60444162 | T | G | 23 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(20): Show |
55 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(52): Show |
3_prime_UTR_variant | MODIFIER | c.*3419A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3419 | chr17 | 60444162 | ||||||
chr17:60444192 | T | C | 25 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(22): Show |
63 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(60): Show |
3_prime_UTR_variant | MODIFIER | c.*3389A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3389 | chr17 | 60444192 | ||||||
chr17:60444312 | A | T | 2 | a0001c0001t0002 a0001c0001t0031 |
18 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*3269T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3269 | chr17 | 60444312 | ||||||
chr17:60444367 | G | A | 1 | a0001c0001t0033 | 1 | HG03704.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3214C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3214 | chr17 | 60444367 | ||||||
chr17:60444528 | A | G | 13 | a0001c0001t0015 a0002c0002t0009 a0002c0002t0014 others(10): Show |
27 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
3_prime_UTR_variant | MODIFIER | c.*3053T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3053 | chr17 | 60444528 | ||||||
chr17:60444552 | A | G | 1 | a0002c0003t0017 | 1 | HG02723.hp2 | 3_prime_UTR_variant | MODIFIER | c.*3029T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 3029 | chr17 | 60444552 | ||||||
chr17:60444629 | T | C | 1 | a0001c0001t0030 | 1 | HG02451.hp2 | 3_prime_UTR_variant | MODIFIER | c.*2952A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2952 | chr17 | 60444629 | ||||||
chr17:60444677 | A | G | 12 | a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(9): Show |
26 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
3_prime_UTR_variant | MODIFIER | c.*2904T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2904 | chr17 | 60444677 | ||||||
chr17:60444947 | T | C | 1 | a0002c0002t0003 | 8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*2634A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2634 | chr17 | 60444947 | ||||||
chr17:60445134 | T | A | 12 | a0002c0002t0009 a0002c0002t0014 a0002c0002t0018 others(9): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*2447A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2447 | chr17 | 60445134 | ||||||
chr17:60445205 | C | G | 1 | a0002c0002t0004 | 7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2376G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2376 | chr17 | 60445205 | ||||||
chr17:60445400 | A | G | 1 | a0002c0002t0004 | 7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
3_prime_UTR_variant | MODIFIER | c.*2181T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2181 | chr17 | 60445400 | ||||||
chr17:60445444 | TG | T | 12 | a0002c0002t0009 a0002c0002t0014 a0002c0002t0018 others(9): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*2136delC | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 2136 | chr17 | 60445444 | ||||||
chr17:60445714 | G | T | 1 | a0002c0002t0025 | 1 | HG02965.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1867C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1867 | chr17 | 60445714 | ||||||
chr17:60446021 | G | C | 1 | a0001c0001t0034 | 1 | HG02280.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1560C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1560 | chr17 | 60446021 | ||||||
chr17:60446097 | C | G | 3 | a0001c0001t0006 a0001c0001t0015 a0001c0001t0024 |
9 | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(6): Show |
3_prime_UTR_variant | MODIFIER | c.*1484G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1484 | chr17 | 60446097 | ||||||
chr17:60446156 | C | A | 1 | a0001c0001t0035 | 1 | HG02071.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1425G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1425 | chr17 | 60446156 | ||||||
chr17:60446170 | G | A | 1 | a0001c0001t0036 | 1 | NA18985.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1411C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1411 | chr17 | 60446170 | ||||||
chr17:60446400 | T | C | 7 | a0002c0003t0007 a0002c0003t0008 a0002c0003t0010 others(4): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*1181A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 1181 | chr17 | 60446400 | ||||||
chr17:60446649 | T | G | 1 | a0001c0001t0037 | 1 | HG00741.hp2 | 3_prime_UTR_variant | MODIFIER | c.*932A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 932 | chr17 | 60446649 | ||||||
chr17:60446917 | T | A | 1 | a0001c0001t0038 | 1 | HG02027.hp2 | 3_prime_UTR_variant | MODIFIER | c.*664A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 664 | chr17 | 60446917 | ||||||
chr17:60446920 | C | CA | 1 | a0002c0002t0003 | 8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*660dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 660 | chr17 | 60446920 | ||||||
chr17:60446936 | A | T | 1 | a0001c0001t0023 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*645T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 645 | chr17 | 60446936 | ||||||
chr17:60447071 | C | T | 1 | a0002c0002t0018 | 1 | HG00639.hp2 | 3_prime_UTR_variant | MODIFIER | c.*510G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 510 | chr17 | 60447071 | ||||||
chr17:60447120 | T | C | 1 | a0002c0002t0014 | 2 | HG01891.hp1 HG03540.hp2 |
3_prime_UTR_variant | MODIFIER | c.*461A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 461 | chr17 | 60447120 | ||||||
chr17:60447403 | A | T | 1 | a0001c0001t0022 | 1 | NA19007.hp2 | 3_prime_UTR_variant | MODIFIER | c.*178T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 178 | chr17 | 60447403 | ||||||
chr17:60447453 | A | C | 1 | a0001c0001t0021 | 1 | HG02717.hp1 | 3_prime_UTR_variant | MODIFIER | c.*128T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 13/13 | 128 | chr17 | 60447453 | ||||||
chr17:60525940 | C | T | 2 | a0002c0003t0008 a0002c0003t0017 |
4 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-9G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/13 | 9 | chr17 | 60525940 | ||||||
chr17:60525983 | A | G | 13 | a0002c0002t0003 a0002c0002t0009 a0002c0002t0014 others(10): Show |
33 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(30): Show |
5_prime_UTR_variant | MODIFIER | c.-52T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/13 | 52 | chr17 | 60525983 | ||||||
chr17:60526211 | G | A | 2 | a0002c0003t0016 a0002c0003t0039 |
3 | HG02055.hp2 HG02145.hp2 NA18906.hp1 |
5_prime_UTR_variant | MODIFIER | c.-280C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/13 | 280 | chr17 | 60526211 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr17:60447855 | GA | G | 5 | a0002c0003t0013g0024 a0002c0003t0013g0025 a0002c0003t0016g0138 others(2): Show |
5 | HG02055.hp2 HG02145.hp2 HG02896.hp1 others(2): Show |
intron_variant | MODIFIER | c.1505-22delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60447855 | |||||||
chr17:60447948 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1505-114G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60447948 | |||||||
chr17:60447957 | G | C | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(1): Show |
4 | HG02027.hp2 HG02080.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.1505-123C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60447957 | |||||||
chr17:60448261 | G | GT | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1505-428_1505-427i others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448261 | |||||||
chr17:60448262 | G | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1505-428C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448262 | |||||||
chr17:60448288 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1505-454T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448288 | |||||||
chr17:60448324 | G | A | 2 | a0002c0002t0014g0020 a0002c0002t0014g0021 |
2 | HG01891.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.1505-490C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448324 | |||||||
chr17:60448495 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1505-661G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448495 | |||||||
chr17:60448600 | T | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1505-766A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448600 | |||||||
chr17:60448877 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1505-1043T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60448877 | |||||||
chr17:60449031 | A | C | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1505-1197T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449031 | |||||||
chr17:60449098 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1505-1264C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449098 | |||||||
chr17:60449129 | T | C | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1505-1295A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449129 | |||||||
chr17:60449293 | G | GA | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1505-1460dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449293 | |||||||
chr17:60449375 | T | A | 2 | a0002c0003t0007g0015 a0002c0003t0007g0016 |
2 | HG03471.hp2 HG03516.hp1 |
intron_variant | MODIFIER | c.1505-1541A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449375 | |||||||
chr17:60449419 | T | G | 1 | a0001c0001t0005g0063 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.1505-1585A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449419 | |||||||
chr17:60449421 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1505-1587C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449421 | |||||||
chr17:60449590 | T | G | 2 | a0002c0002t0004g0033 a0002c0002t0004g0034 |
2 | HG03041.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.1505-1756A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449590 | |||||||
chr17:60449602 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1505-1768T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449602 | |||||||
chr17:60449694 | T | TA | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1505-1861dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449694 | |||||||
chr17:60449761 | A | C | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1505-1927T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449761 | |||||||
chr17:60449822 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1505-1988A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449822 | |||||||
chr17:60449833 | C | T | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.1505-1999G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449833 | |||||||
chr17:60449860 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+2020T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449860 | |||||||
chr17:60449941 | C | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1504+1939G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60449941 | |||||||
chr17:60450180 | TGTAATCC others(19): Show |
T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1504+1674_1504+169 others(30): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450180 | |||||||
chr17:60450226 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+1654A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450226 | |||||||
chr17:60450239 | T | C | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.1504+1641A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450239 | |||||||
chr17:60450265 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1504+1615G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450265 | |||||||
chr17:60450266 | G | A | 4 | a0001c0001t0002g0003 a0001c0001t0002g0085 a0001c0001t0002g0119 others(1): Show |
5 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(2): Show |
intron_variant | MODIFIER | c.1504+1614C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450266 | |||||||
chr17:60450306 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+1574G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450306 | |||||||
chr17:60450331 | C | T | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1504+1549G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450331 | |||||||
chr17:60450369 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1504+1511G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450369 | |||||||
chr17:60450395 | G | A | 1 | a0001c0001t0001g0086 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.1504+1485C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450395 | |||||||
chr17:60450437 | C | CAA | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+1441_1504+144 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450437 | |||||||
chr17:60450615 | T | TA | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1504+1264dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450615 | |||||||
chr17:60450615 | TA | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+1264delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450615 | |||||||
chr17:60450785 | GAAAGAAA | G | 27 | a0001c0001t0002g0041 a0001c0001t0002g0117 a0002c0002t0009g0011 others(24): Show |
27 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.1504+1088_1504+109 others(11): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450785 | |||||||
chr17:60450792 | A | G | 1 | a0001c0001t0001g0128 | 1 | NA19011.hp1 | intron_variant | MODIFIER | c.1504+1088T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450792 | |||||||
chr17:60450871 | T | C | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1504+1009A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60450871 | |||||||
chr17:60451055 | T | C | 1 | a0001c0001t0001g0103 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.1504+825A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451055 | |||||||
chr17:60451074 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+806A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451074 | |||||||
chr17:60451111 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1504+769T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451111 | |||||||
chr17:60451344 | T | C | 4 | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 others(1): Show |
4 | HG00741.hp1 HG01071.hp2 HG01258.hp1 others(1): Show |
intron_variant | MODIFIER | c.1504+536A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451344 | |||||||
chr17:60451476 | T | A | 8 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(5): Show |
8 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.1504+404A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451476 | |||||||
chr17:60451725 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1504+155A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451725 | |||||||
chr17:60451818 | T | A | 1 | a0001c0001t0001g0089 | 1 | NA18955.hp2 | intron_variant | MODIFIER | c.1504+62A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 12/12 | chr17 | 60451818 | |||||||
chr17:60452213 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1339-168T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452213 | |||||||
chr17:60452504 | G | T | 1 | a0001c0001t0001g0084 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.1339-459C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452504 | |||||||
chr17:60452548 | T | C | 8 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(5): Show |
8 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.1339-503A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452548 | |||||||
chr17:60452563 | G | A | 1 | a0001c0001t0001g0102 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.1339-518C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452563 | |||||||
chr17:60452676 | T | C | 1 | a0001c0001t0001g0101 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1339-631A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452676 | |||||||
chr17:60452859 | G | A | 1 | a0001c0001t0001g0101 | 1 | HG02622.hp2 | intron_variant | MODIFIER | c.1339-814C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452859 | |||||||
chr17:60452966 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1339-921A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452966 | |||||||
chr17:60452995 | C | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1339-950G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60452995 | |||||||
chr17:60453016 | A | C | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1339-971T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453016 | |||||||
chr17:60453115 | G | T | 1 | a0001c0001t0006g0048 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1339-1070C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453115 | |||||||
chr17:60453162 | A | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1339-1117T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453162 | |||||||
chr17:60453249 | T | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1338+1053A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453249 | |||||||
chr17:60453296 | G | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1338+1006C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453296 | |||||||
chr17:60453536 | G | GT | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1338+765dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453536 | |||||||
chr17:60453536 | G | GTTTT | 18 | a0002c0002t0009g0011 a0002c0002t0009g0019 a0002c0002t0014g0020 others(15): Show |
18 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(15): Show |
intron_variant | MODIFIER | c.1338+762_1338+765d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453536 | |||||||
chr17:60453536 | G | GTTTTT | 6 | a0002c0002t0009g0013 a0002c0002t0020g0018 a0002c0003t0007g0015 others(3): Show |
6 | HG02055.hp2 HG03098.hp1 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.1338+761_1338+765d others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453536 | |||||||
chr17:60453548 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1338+754C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453548 | |||||||
chr17:60453727 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1338+575A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453727 | |||||||
chr17:60453999 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1338+303C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60453999 | |||||||
chr17:60454060 | C | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1338+242G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 11/12 | chr17 | 60454060 | |||||||
chr17:60454597 | T | C | 1 | a0001c0001t0001g0105 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1148-105A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60454597 | |||||||
chr17:60454719 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1148-227C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60454719 | |||||||
chr17:60454727 | C | T | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1148-235G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60454727 | |||||||
chr17:60454771 | T | C | 1 | a0001c0001t0001g0096 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.1148-279A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60454771 | |||||||
chr17:60454857 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1148-365C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60454857 | |||||||
chr17:60454878 | A | C | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.1148-386T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60454878 | |||||||
chr17:60455071 | T | C | 7 | a0001c0001t0001g0086 a0002c0002t0003g0001 a0002c0002t0003g0026 others(4): Show |
9 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.1148-579A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455071 | |||||||
chr17:60455124 | G | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1148-632C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455124 | |||||||
chr17:60455313 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1148-821A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455313 | |||||||
chr17:60455439 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1147+857C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455439 | |||||||
chr17:60455460 | C | T | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1147+836G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455460 | |||||||
chr17:60455620 | G | A | 2 | a0001c0001t0001g0066 a0001c0001t0001g0090 |
2 | HG02056.hp2 NA19074.hp1 |
intron_variant | MODIFIER | c.1147+676C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455620 | |||||||
chr17:60455793 | C | CTTTTTTC others(13): Show |
25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1147+502_1147+503i others(22): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455793 | |||||||
chr17:60455841 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1147+455C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455841 | |||||||
chr17:60455939 | G | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.1147+357C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60455939 | |||||||
chr17:60456030 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.1147+266C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60456030 | |||||||
chr17:60456172 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.1147+124A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 10/12 | chr17 | 60456172 | |||||||
chr17:60456686 | G | A | 1 | a0001c0001t0006g0048 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.1062-305C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60456686 | |||||||
chr17:60456738 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-357C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60456738 | |||||||
chr17:60456834 | C | T | 1 | a0002c0002t0018g0022 | 1 | HG00639.hp2 | intron_variant | MODIFIER | c.1062-453G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60456834 | |||||||
chr17:60456853 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1062-472A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60456853 | |||||||
chr17:60456893 | T | C | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.1062-512A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60456893 | |||||||
chr17:60456972 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-591G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60456972 | |||||||
chr17:60457128 | CA | C | 68 | a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0090 others(65): Show |
70 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.1062-748delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457128 | |||||||
chr17:60457313 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-932G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457313 | |||||||
chr17:60457418 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-1037C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457418 | |||||||
chr17:60457436 | TG | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1062-1056delC | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457436 | |||||||
chr17:60457441 | T | G | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1062-1060A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457441 | |||||||
chr17:60457486 | A | G | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.1062-1105T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457486 | |||||||
chr17:60457526 | G | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1062-1145C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457526 | |||||||
chr17:60457722 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-1341C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457722 | |||||||
chr17:60457746 | A | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1062-1365T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457746 | |||||||
chr17:60457838 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.1062-1457C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457838 | |||||||
chr17:60457899 | T | G | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.1062-1518A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457899 | |||||||
chr17:60457950 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-1569C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457950 | |||||||
chr17:60457957 | T | A | 1 | a0002c0002t0004g0034 | 1 | NA20300.hp1 | intron_variant | MODIFIER | c.1062-1576A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457957 | |||||||
chr17:60457997 | T | TTC | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.1062-1618_1062-161 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60457997 | |||||||
chr17:60458006 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-1625G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458006 | |||||||
chr17:60458023 | G | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG01099.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.1062-1642C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458023 | |||||||
chr17:60458180 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-1799G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458180 | |||||||
chr17:60458270 | C | T | 3 | a0001c0001t0002g0002 a0001c0001t0002g0121 a0001c0001t0002g0122 |
4 | NA18955.hp1 NA18968.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.1062-1889G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458270 | |||||||
chr17:60458294 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-1913A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458294 | |||||||
chr17:60458349 | G | A | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(1): Show |
4 | HG02027.hp2 HG02080.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.1062-1968C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458349 | |||||||
chr17:60458435 | C | CA | 10 | a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0046 others(7): Show |
10 | HG01099.hp1 HG01884.hp1 HG01891.hp2 others(7): Show |
intron_variant | MODIFIER | c.1062-2055dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458435 | |||||||
chr17:60458435 | C | CAA | 23 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(20): Show |
23 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.1062-2056_1062-205 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458435 | |||||||
chr17:60458446 | C | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1062-2065G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458446 | |||||||
chr17:60458554 | T | G | 1 | a0001c0001t0001g0074 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.1061+2109A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458554 | |||||||
chr17:60458606 | G | C | 1 | a0001c0001t0001g0070 | 1 | HG01993.hp1 | intron_variant | MODIFIER | c.1061+2057C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458606 | |||||||
chr17:60458665 | G | C | 1 | a0002c0003t0010g0012 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.1061+1998C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458665 | |||||||
chr17:60458728 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+1935T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458728 | |||||||
chr17:60458771 | T | G | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 |
3 | HG02080.hp2 NA18983.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.1061+1892A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458771 | |||||||
chr17:60458781 | T | TG | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+1881dupC | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458781 | |||||||
chr17:60458782 | GT | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1061+1880delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458782 | |||||||
chr17:60458834 | G | A | 1 | a0001c0001t0001g0077 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1061+1829C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458834 | |||||||
chr17:60458837 | A | C | 1 | a0001c0001t0001g0077 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.1061+1826T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458837 | |||||||
chr17:60458929 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.1061+1734A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60458929 | |||||||
chr17:60459196 | C | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1061+1467G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459196 | |||||||
chr17:60459219 | T | C | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.1061+1444A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459219 | |||||||
chr17:60459372 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+1291A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459372 | |||||||
chr17:60459448 | TA | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1061+1214delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459448 | |||||||
chr17:60459451 | A | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.1061+1212T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459451 | |||||||
chr17:60459489 | C | CT | 21 | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0087 others(18): Show |
23 | HG01099.hp1 HG01168.hp2 HG01952.hp1 others(20): Show |
intron_variant | MODIFIER | c.1061+1173dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459489 | |||||||
chr17:60459489 | C | CTTT | 23 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(20): Show |
23 | HG01243.hp1 HG01346.hp1 HG01884.hp1 others(20): Show |
intron_variant | MODIFIER | c.1061+1171_1061+117 others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459489 | |||||||
chr17:60459489 | CT | C | 23 | a0001c0001t0001g0069 a0001c0001t0001g0101 a0001c0001t0001g0136 others(20): Show |
23 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(20): Show |
intron_variant | MODIFIER | c.1061+1173delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459489 | |||||||
chr17:60459554 | G | A | 1 | a0001c0001t0021g0054 | 1 | HG02717.hp1 | intron_variant | MODIFIER | c.1061+1109C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459554 | |||||||
chr17:60459562 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+1101C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60459562 | |||||||
chr17:60460229 | C | A | 1 | a0001c0001t0031g0100 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.1061+434G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460229 | |||||||
chr17:60460327 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+336T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460327 | |||||||
chr17:60460333 | G | C | 1 | a0001c0001t0029g0059 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.1061+330C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460333 | |||||||
chr17:60460343 | C | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+320G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460343 | |||||||
chr17:60460365 | G | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.1061+298C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460365 | |||||||
chr17:60460418 | C | T | 1 | a0001c0001t0001g0082 | 1 | NA20300.hp2 | intron_variant | MODIFIER | c.1061+245G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460418 | |||||||
chr17:60460550 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.1061+113G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 9/12 | chr17 | 60460550 | |||||||
chr17:60460950 | G | A | 2 | a0001c0001t0001g0079 a0001c0001t0022g0078 |
2 | HG02027.hp1 NA19007.hp2 |
intron_variant | MODIFIER | c.937-163C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60460950 | |||||||
chr17:60460998 | TTAATAA | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.937-217_937-212del others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60460998 | |||||||
chr17:60461018 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.937-231T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461018 | |||||||
chr17:60461174 | A | G | 7 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(4): Show |
7 | HG02572.hp2 HG02809.hp2 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.937-387T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461174 | |||||||
chr17:60461321 | G | A | 1 | a0001c0001t0002g0106 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.936+489C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461321 | |||||||
chr17:60461351 | G | A | 1 | a0001c0001t0037g0072 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.936+459C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461351 | |||||||
chr17:60461373 | T | C | 1 | a0001c0001t0002g0110 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.936+437A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461373 | |||||||
chr17:60461374 | CA | C | 26 | a0001c0001t0012g0134 a0002c0002t0009g0011 a0002c0002t0009g0013 others(23): Show |
26 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.936+435delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461374 | |||||||
chr17:60461430 | A | G | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.936+380T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461430 | |||||||
chr17:60461504 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.936+306A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461504 | |||||||
chr17:60461584 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.936+226A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461584 | |||||||
chr17:60461667 | T | A | 17 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(14): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.936+143A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461667 | |||||||
chr17:60461668 | T | C | 3 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0017 |
3 | HG02886.hp1 HG02896.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.936+142A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461668 | |||||||
chr17:60461792 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.936+18C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 8/12 | chr17 | 60461792 | |||||||
chr17:60462079 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.763-18T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462079 | |||||||
chr17:60462142 | A | G | 1 | a0001c0001t0001g0071 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.763-81T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462142 | |||||||
chr17:60462146 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.763-85C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462146 | |||||||
chr17:60462294 | T | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.763-233A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462294 | |||||||
chr17:60462423 | G | A | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.763-362C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462423 | |||||||
chr17:60462435 | A | G | 1 | a0001c0001t0001g0080 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.763-374T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462435 | |||||||
chr17:60462623 | T | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.763-562A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462623 | |||||||
chr17:60462722 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.763-661C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462722 | |||||||
chr17:60462733 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.763-672T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462733 | |||||||
chr17:60462746 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.763-685G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462746 | |||||||
chr17:60462791 | A | C | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.763-730T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462791 | |||||||
chr17:60462823 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.763-762T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462823 | |||||||
chr17:60462874 | C | CT | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.763-814dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462874 | |||||||
chr17:60462908 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.763-847C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462908 | |||||||
chr17:60462943 | C | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.763-882G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462943 | |||||||
chr17:60462948 | C | CAA | 24 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0063 others(21): Show |
24 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.763-889_763-888dup others(2): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462948 | |||||||
chr17:60462964 | G | A | 1 | a0001c0001t0005g0062 | 1 | HG02572.hp2 | intron_variant | MODIFIER | c.763-903C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60462964 | |||||||
chr17:60463193 | A | T | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.762+828T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60463193 | |||||||
chr17:60463263 | G | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.762+758C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60463263 | |||||||
chr17:60463418 | A | C | 1 | a0001c0001t0001g0067 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.762+603T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60463418 | |||||||
chr17:60463665 | C | T | 1 | a0001c0001t0006g0047 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.762+356G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 6/12 | chr17 | 60463665 | |||||||
chr17:60464157 | T | C | 1 | a0002c0002t0019g0023 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.673-47A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464157 | |||||||
chr17:60464166 | T | C | 4 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(1): Show |
4 | HG03098.hp1 HG03209.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.673-56A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464166 | |||||||
chr17:60464203 | T | C | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.673-93A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464203 | |||||||
chr17:60464303 | T | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.673-193A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464303 | |||||||
chr17:60464309 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.673-199T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464309 | |||||||
chr17:60464322 | G | A | 32 | a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0047 others(29): Show |
32 | HG00639.hp2 HG01109.hp1 HG01884.hp1 others(29): Show |
intron_variant | MODIFIER | c.673-212C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464322 | |||||||
chr17:60464494 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.673-384A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464494 | |||||||
chr17:60464760 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.673-650C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464760 | |||||||
chr17:60464871 | G | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.673-761C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464871 | |||||||
chr17:60464878 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.673-768A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60464878 | |||||||
chr17:60465036 | GACAA | G | 3 | a0001c0001t0001g0069 a0001c0001t0001g0101 a0001c0001t0001g0136 |
3 | HG02559.hp1 HG02622.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.673-930_673-927del others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465036 | |||||||
chr17:60465167 | CT | C | 26 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(23): Show |
26 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.673-1058delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465167 | |||||||
chr17:60465265 | C | G | 1 | a0001c0001t0001g0120 | 1 | NA18995.hp2 | intron_variant | MODIFIER | c.672+1026G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465265 | |||||||
chr17:60465463 | A | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.672+828T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465463 | |||||||
chr17:60465506 | G | A | 17 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(14): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.672+785C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465506 | |||||||
chr17:60465574 | A | C | 1 | a0001c0001t0032g0068 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.672+717T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465574 | |||||||
chr17:60465617 | C | T | 1 | a0002c0003t0010g0012 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.672+674G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465617 | |||||||
chr17:60465750 | T | C | 1 | a0001c0001t0001g0086 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.672+541A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465750 | |||||||
chr17:60465964 | T | C | 2 | a0002c0003t0008g0005 a0002c0003t0008g0007 |
2 | HG01109.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.672+327A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60465964 | |||||||
chr17:60466023 | T | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.672+268A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60466023 | |||||||
chr17:60466129 | G | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.672+162C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60466129 | |||||||
chr17:60466226 | T | G | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.672+65A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 5/12 | chr17 | 60466226 | |||||||
chr17:60466474 | T | A | 2 | a0002c0003t0013g0024 a0002c0003t0013g0025 |
2 | HG02896.hp1 HG02897.hp1 |
intron_variant | MODIFIER | c.504-15A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60466474 | |||||||
chr17:60466741 | C | T | 2 | a0001c0001t0011g0055 a0001c0001t0011g0058 |
2 | HG02965.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.504-282G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60466741 | |||||||
chr17:60466855 | T | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.504-396A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60466855 | |||||||
chr17:60467046 | CA | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-588delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467046 | |||||||
chr17:60467142 | G | T | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.504-683C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467142 | |||||||
chr17:60467148 | ATATT | A | 27 | a0001c0001t0001g0099 a0001c0001t0036g0113 a0002c0002t0009g0011 others(24): Show |
27 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.504-693_504-690del others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467148 | |||||||
chr17:60467233 | A | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.504-774T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467233 | |||||||
chr17:60467255 | T | C | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.504-796A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467255 | |||||||
chr17:60467331 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-872T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467331 | |||||||
chr17:60467592 | T | C | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.504-1133A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467592 | |||||||
chr17:60467611 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-1152G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467611 | |||||||
chr17:60467630 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-1171C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60467630 | |||||||
chr17:60468015 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-1556A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468015 | |||||||
chr17:60468028 | G | A | 1 | a0001c0001t0002g0122 | 1 | NA18955.hp1 | intron_variant | MODIFIER | c.504-1569C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468028 | |||||||
chr17:60468040 | A | G | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.504-1581T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468040 | |||||||
chr17:60468246 | C | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-1787G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468246 | |||||||
chr17:60468299 | G | GT | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.504-1841dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468299 | |||||||
chr17:60468379 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-1920C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468379 | |||||||
chr17:60468562 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2103A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468562 | |||||||
chr17:60468585 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2126C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468585 | |||||||
chr17:60468651 | CT | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2193delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468651 | |||||||
chr17:60468695 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2236A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468695 | |||||||
chr17:60468816 | A | G | 1 | a0001c0001t0005g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.504-2357T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468816 | |||||||
chr17:60468873 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2414C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60468873 | |||||||
chr17:60469103 | G | A | 2 | a0001c0001t0001g0086 a0001c0001t0032g0068 |
2 | HG02735.hp1 HG06807.hp1 |
intron_variant | MODIFIER | c.504-2644C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469103 | |||||||
chr17:60469173 | A | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.504-2714T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469173 | |||||||
chr17:60469234 | A | G | 56 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(53): Show |
58 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(55): Show |
intron_variant | MODIFIER | c.504-2775T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469234 | |||||||
chr17:60469324 | C | CA | 10 | a0001c0001t0006g0046 a0001c0001t0030g0043 a0002c0002t0004g0033 others(7): Show |
10 | HG01168.hp2 HG01243.hp1 HG02451.hp2 others(7): Show |
intron_variant | MODIFIER | c.504-2866dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469324 | |||||||
chr17:60469324 | C | CAA | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2867_504-2866d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469324 | |||||||
chr17:60469345 | T | A | 12 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0085 others(9): Show |
14 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(11): Show |
intron_variant | MODIFIER | c.504-2886A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469345 | |||||||
chr17:60469403 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2944A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469403 | |||||||
chr17:60469414 | A | ATTT | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-2958_504-2956d others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469414 | |||||||
chr17:60469483 | G | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.504-3024C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469483 | |||||||
chr17:60469746 | T | C | 1 | a0001c0001t0033g0088 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.504-3287A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469746 | |||||||
chr17:60469831 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-3372T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469831 | |||||||
chr17:60469855 | C | T | 31 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(28): Show |
33 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.504-3396G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469855 | |||||||
chr17:60469977 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.504-3518A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60469977 | |||||||
chr17:60470016 | C | CT | 8 | a0001c0001t0012g0073 a0002c0002t0004g0033 a0002c0002t0004g0034 others(5): Show |
8 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(5): Show |
intron_variant | MODIFIER | c.504-3558dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470016 | |||||||
chr17:60470016 | C | T | 4 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(1): Show |
4 | HG03098.hp1 HG03209.hp2 NA19030.hp2 others(1): Show |
intron_variant | MODIFIER | c.504-3557G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470016 | |||||||
chr17:60470028 | C | T | 2 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | HG00673.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.504-3569G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470028 | |||||||
chr17:60470245 | A | C | 1 | a0001c0001t0001g0080 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.504-3786T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470245 | |||||||
chr17:60470531 | G | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.504-4072C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470531 | |||||||
chr17:60470581 | A | C | 1 | a0001c0001t0006g0048 | 1 | HG02055.hp1 | intron_variant | MODIFIER | c.504-4122T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470581 | |||||||
chr17:60470672 | G | A | 1 | a0001c0001t0001g0129 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.504-4213C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470672 | |||||||
chr17:60470711 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-4252A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470711 | |||||||
chr17:60470793 | ATTT | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-4337_504-4335d others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470793 | |||||||
chr17:60470854 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-4395C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470854 | |||||||
chr17:60470893 | C | T | 1 | a0001c0001t0001g0105 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.504-4434G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470893 | |||||||
chr17:60470925 | G | C | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.504-4466C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470925 | |||||||
chr17:60470965 | A | AT | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-4507dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60470965 | |||||||
chr17:60471081 | G | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.504-4622C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471081 | |||||||
chr17:60471091 | C | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-4632G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471091 | |||||||
chr17:60471318 | C | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.504-4859G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471318 | |||||||
chr17:60471319 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.504-4860C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471319 | |||||||
chr17:60471356 | T | C | 3 | a0001c0001t0002g0002 a0001c0001t0002g0121 a0001c0001t0002g0122 |
4 | NA18955.hp1 NA18968.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.504-4897A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471356 | |||||||
chr17:60471444 | T | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.504-4985A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471444 | |||||||
chr17:60471507 | AT | A | 36 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(33): Show |
36 | HG01168.hp2 HG01243.hp1 HG01346.hp1 others(33): Show |
intron_variant | MODIFIER | c.504-5049delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471507 | |||||||
chr17:60471507 | ATT | A | 32 | a0001c0001t0005g0064 a0002c0002t0003g0001 a0002c0002t0003g0026 others(29): Show |
34 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(31): Show |
intron_variant | MODIFIER | c.504-5050_504-5049d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471507 | |||||||
chr17:60471579 | G | GT | 6 | a0001c0001t0001g0120 a0002c0003t0007g0017 a0002c0003t0013g0024 others(3): Show |
6 | HG02055.hp2 HG02896.hp1 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.504-5121dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471579 | |||||||
chr17:60471591 | T | C | 9 | a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0046 others(6): Show |
9 | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.504-5132A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471591 | |||||||
chr17:60471634 | C | T | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.504-5175G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471634 | |||||||
chr17:60471766 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-5307C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471766 | |||||||
chr17:60471798 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.504-5339A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471798 | |||||||
chr17:60471819 | C | T | 1 | a0001c0001t0001g0075 | 1 | HG01168.hp1 | intron_variant | MODIFIER | c.504-5360G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471819 | |||||||
chr17:60471835 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-5376G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471835 | |||||||
chr17:60471942 | A | G | 1 | a0002c0002t0019g0023 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.504-5483T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471942 | |||||||
chr17:60471951 | C | T | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.504-5492G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60471951 | |||||||
chr17:60472036 | G | A | 1 | a0002c0003t0008g0005 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.504-5577C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472036 | |||||||
chr17:60472080 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-5621C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472080 | |||||||
chr17:60472130 | A | C | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.504-5671T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472130 | |||||||
chr17:60472154 | GAAACAA | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.504-5701_504-5696d others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472154 | |||||||
chr17:60472224 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-5765C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472224 | |||||||
chr17:60472261 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-5802A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472261 | |||||||
chr17:60472366 | T | G | 2 | a0002c0003t0008g0006 a0002c0003t0017g0004 |
2 | HG02723.hp2 HG02809.hp1 |
intron_variant | MODIFIER | c.504-5907A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472366 | |||||||
chr17:60472427 | T | C | 1 | a0002c0002t0003g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.504-5968A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472427 | |||||||
chr17:60472438 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-5979T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472438 | |||||||
chr17:60472610 | G | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.504-6151C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472610 | |||||||
chr17:60472623 | G | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.504-6164C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472623 | |||||||
chr17:60472738 | T | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.504-6279A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472738 | |||||||
chr17:60472792 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.504-6333A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472792 | |||||||
chr17:60472842 | C | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.503+6306G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472842 | |||||||
chr17:60472910 | C | T | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.503+6238G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60472910 | |||||||
chr17:60473245 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+5903T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60473245 | |||||||
chr17:60473364 | A | G | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.503+5784T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60473364 | |||||||
chr17:60473570 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+5578A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60473570 | |||||||
chr17:60474175 | T | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+4973A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474175 | |||||||
chr17:60474176 | T | A | 68 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(65): Show |
70 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(67): Show |
intron_variant | MODIFIER | c.503+4972A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474176 | |||||||
chr17:60474178 | T | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.503+4970A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474178 | |||||||
chr17:60474183 | T | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.503+4965A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474183 | |||||||
chr17:60474291 | C | T | 1 | a0001c0001t0034g0045 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.503+4857G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474291 | |||||||
chr17:60474678 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.503+4470A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474678 | |||||||
chr17:60474809 | C | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.503+4339G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474809 | |||||||
chr17:60474894 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.503+4254A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474894 | |||||||
chr17:60474986 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.503+4162A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474986 | |||||||
chr17:60474993 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.503+4155C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60474993 | |||||||
chr17:60475080 | A | T | 15 | a0001c0001t0001g0128 a0001c0001t0002g0002 a0001c0001t0002g0003 others(12): Show |
17 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(14): Show |
intron_variant | MODIFIER | c.503+4068T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475080 | |||||||
chr17:60475234 | CAAAAACA | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.503+3907_503+3913d others(9): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475234 | |||||||
chr17:60475282 | T | G | 1 | a0002c0002t0004g0036 | 1 | HG02723.hp1 | intron_variant | MODIFIER | c.503+3866A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475282 | |||||||
chr17:60475442 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+3706A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475442 | |||||||
chr17:60475552 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.503+3596G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475552 | |||||||
chr17:60475648 | T | TAC | 40 | a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0074 others(37): Show |
40 | HG00558.hp2 HG00639.hp1 HG00741.hp2 others(37): Show |
intron_variant | MODIFIER | c.503+3498_503+3499d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACAC | 11 | a0001c0001t0001g0067 a0001c0001t0001g0089 a0001c0001t0001g0103 others(8): Show |
11 | HG00609.hp2 HG01346.hp1 HG01346.hp2 others(8): Show |
intron_variant | MODIFIER | c.503+3496_503+3499d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACAC | 5 | a0001c0001t0001g0104 a0001c0001t0015g0051 a0001c0001t0015g0052 others(2): Show |
5 | HG01243.hp2 HG02559.hp2 HG02622.hp1 others(2): Show |
intron_variant | MODIFIER | c.503+3494_503+3499d others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACACA others(1): Show |
3 | a0001c0001t0005g0137 a0001c0001t0024g0050 a0001c0001t0029g0059 |
3 | HG01884.hp1 HG02109.hp2 NA18906.hp2 |
intron_variant | MODIFIER | c.503+3492_503+3499d others(10): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACACA others(3): Show |
3 | a0001c0001t0011g0057 a0001c0001t0012g0073 a0001c0001t0034g0045 |
3 | HG02280.hp2 NA19240.hp2 NA21309.hp1 |
intron_variant | MODIFIER | c.503+3490_503+3499d others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACACA others(5): Show |
2 | a0001c0001t0005g0062 a0001c0001t0005g0065 |
2 | HG02572.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.503+3488_503+3499d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACACA others(7): Show |
1 | a0001c0001t0005g0060 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.503+3486_503+3499d others(16): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACACA others(9): Show |
1 | a0001c0001t0005g0064 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.503+3484_503+3499d others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | T | TACACACA others(11): Show |
1 | a0001c0001t0005g0063 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.503+3482_503+3499d others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | TAC | T | 12 | a0001c0001t0001g0096 a0001c0001t0002g0003 a0001c0001t0002g0106 others(9): Show |
13 | HG00609.hp1 HG00673.hp2 HG01071.hp1 others(10): Show |
intron_variant | MODIFIER | c.503+3498_503+3499d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | TACAC | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.503+3496_503+3499d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | TACACAC | T | 6 | a0001c0001t0001g0094 a0002c0002t0003g0001 a0002c0002t0003g0026 others(3): Show |
8 | HG01071.hp2 HG01099.hp1 HG01952.hp1 others(5): Show |
intron_variant | MODIFIER | c.503+3494_503+3499d others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475648 | TACACACA others(5): Show |
T | 3 | a0001c0001t0001g0128 a0001c0001t0002g0092 a0001c0001t0002g0127 |
3 | HG03704.hp1 NA19011.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.503+3488_503+3499d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475648 | |||||||
chr17:60475661 | A | ACACG | 6 | a0002c0002t0019g0023 a0002c0003t0007g0008 a0002c0003t0007g0009 others(3): Show |
6 | HG02886.hp1 HG03041.hp2 HG03098.hp2 others(3): Show |
intron_variant | MODIFIER | c.503+3486_503+3487i others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475661 | |||||||
chr17:60475663 | A | ACG | 17 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(14): Show |
17 | HG00639.hp2 HG01109.hp1 HG02055.hp2 others(14): Show |
intron_variant | MODIFIER | c.503+3484_503+3485i others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475663 | |||||||
chr17:60475667 | A | G | 2 | a0002c0002t0014g0020 a0002c0002t0014g0021 |
2 | HG01891.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.503+3481T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475667 | |||||||
chr17:60475689 | A | ACACACAC others(9): Show |
1 | a0001c0001t0005g0061 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.503+3458_503+3459i others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475689 | |||||||
chr17:60475711 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+3437T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475711 | |||||||
chr17:60475713 | T | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.503+3435A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475713 | |||||||
chr17:60475826 | T | C | 1 | a0001c0001t0001g0114 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.503+3322A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60475826 | |||||||
chr17:60476004 | G | A | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.503+3144C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60476004 | |||||||
chr17:60476013 | C | T | 24 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(21): Show |
24 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.503+3135G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60476013 | |||||||
chr17:60476039 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.503+3109A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60476039 | |||||||
chr17:60476551 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+2597G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60476551 | |||||||
chr17:60476858 | C | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.503+2290G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60476858 | |||||||
chr17:60476966 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+2182T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60476966 | |||||||
chr17:60477117 | C | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.503+2031G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477117 | |||||||
chr17:60477152 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+1996G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477152 | |||||||
chr17:60477191 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+1957C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477191 | |||||||
chr17:60477364 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.503+1784A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477364 | |||||||
chr17:60477408 | T | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.503+1740A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477408 | |||||||
chr17:60477492 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+1656A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477492 | |||||||
chr17:60477800 | C | CA | 25 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+1347dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477800 | |||||||
chr17:60477800 | C | CAA | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.503+1346_503+1347d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477800 | |||||||
chr17:60477923 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+1225A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477923 | |||||||
chr17:60477936 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+1212A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60477936 | |||||||
chr17:60478002 | A | T | 10 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(7): Show |
10 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(7): Show |
intron_variant | MODIFIER | c.503+1146T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478002 | |||||||
chr17:60478167 | C | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+981G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478167 | |||||||
chr17:60478172 | C | G | 31 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(28): Show |
33 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.503+976G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478172 | |||||||
chr17:60478172 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.503+976G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478172 | |||||||
chr17:60478265 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+883T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478265 | |||||||
chr17:60478594 | A | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.503+554T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478594 | |||||||
chr17:60478693 | A | C | 5 | a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 others(2): Show |
5 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.503+455T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478693 | |||||||
chr17:60478914 | T | TA | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.503+233dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60478914 | |||||||
chr17:60479078 | T | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.503+70A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 4/12 | chr17 | 60479078 | |||||||
chr17:60479370 | C | T | 3 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0017 |
3 | HG02886.hp1 HG02896.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.380-99G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60479370 | |||||||
chr17:60479578 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-307A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60479578 | |||||||
chr17:60479664 | G | A | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.380-393C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60479664 | |||||||
chr17:60479784 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.380-513G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60479784 | |||||||
chr17:60480242 | G | A | 1 | a0001c0001t0001g0083 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.380-971C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480242 | |||||||
chr17:60480257 | CAGCTACT others(4): Show |
C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.380-997_380-987del others(11): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480257 | |||||||
chr17:60480262 | A | G | 2 | a0002c0002t0014g0020 a0002c0002t0014g0021 |
2 | HG01891.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.380-991T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480262 | |||||||
chr17:60480321 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-1050C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480321 | |||||||
chr17:60480414 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.380-1143C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480414 | |||||||
chr17:60480482 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-1211A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480482 | |||||||
chr17:60480512 | A | G | 3 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 |
3 | HG02080.hp2 NA18983.hp1 NA18995.hp1 |
intron_variant | MODIFIER | c.380-1241T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480512 | |||||||
chr17:60480566 | A | AT | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-1296dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480566 | |||||||
chr17:60480897 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-1626A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60480897 | |||||||
chr17:60481013 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-1742C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481013 | |||||||
chr17:60481081 | G | A | 1 | a0002c0002t0003g0028 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.380-1810C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481081 | |||||||
chr17:60481163 | C | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-1892G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481163 | |||||||
chr17:60481194 | TC | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.380-1924delG | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481194 | |||||||
chr17:60481219 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-1948T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481219 | |||||||
chr17:60481247 | C | T | 8 | a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0082 others(5): Show |
8 | HG01346.hp2 HG02027.hp1 NA18747.hp1 others(5): Show |
intron_variant | MODIFIER | c.380-1976G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481247 | |||||||
chr17:60481297 | C | T | 7 | a0001c0001t0034g0045 a0002c0002t0003g0001 a0002c0002t0003g0026 others(4): Show |
9 | HG01099.hp1 HG01952.hp1 HG02280.hp2 others(6): Show |
intron_variant | MODIFIER | c.380-2026G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481297 | |||||||
chr17:60481575 | A | G | 1 | a0002c0002t0004g0033 | 1 | HG03041.hp1 | intron_variant | MODIFIER | c.380-2304T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481575 | |||||||
chr17:60481646 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-2375G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481646 | |||||||
chr17:60481746 | T | C | 2 | a0001c0001t0001g0086 a0001c0001t0001g0105 |
2 | HG03516.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.380-2475A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481746 | |||||||
chr17:60481850 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-2579T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481850 | |||||||
chr17:60481943 | C | T | 1 | a0001c0001t0011g0057 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.380-2672G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60481943 | |||||||
chr17:60482044 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-2773C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482044 | |||||||
chr17:60482128 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-2857T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482128 | |||||||
chr17:60482181 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-2910C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482181 | |||||||
chr17:60482259 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-2988G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482259 | |||||||
chr17:60482300 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-3029A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482300 | |||||||
chr17:60482323 | CT | C | 17 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(14): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.380-3053delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482323 | |||||||
chr17:60482525 | G | A | 4 | a0001c0001t0011g0055 a0001c0001t0011g0057 a0001c0001t0011g0058 others(1): Show |
4 | HG01346.hp1 HG02965.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.380-3254C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482525 | |||||||
chr17:60482636 | C | T | 1 | a0001c0001t0005g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.380-3365G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482636 | |||||||
chr17:60482704 | T | C | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.380-3433A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482704 | |||||||
chr17:60482832 | T | C | 7 | a0001c0001t0001g0103 a0002c0002t0003g0001 a0002c0002t0003g0026 others(4): Show |
9 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(6): Show |
intron_variant | MODIFIER | c.380-3561A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482832 | |||||||
chr17:60482879 | C | T | 6 | a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0108 others(3): Show |
6 | HG02027.hp2 HG02080.hp2 HG03516.hp2 others(3): Show |
intron_variant | MODIFIER | c.380-3608G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60482879 | |||||||
chr17:60483110 | G | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-3839C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483110 | |||||||
chr17:60483272 | GTTGT | G | 2 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | HG00673.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.380-4005_380-4002d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483272 | |||||||
chr17:60483297 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-4026G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483297 | |||||||
chr17:60483395 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-4124T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483395 | |||||||
chr17:60483692 | C | T | 1 | a0001c0001t0001g0067 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.380-4421G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483692 | |||||||
chr17:60483702 | T | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.380-4431A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483702 | |||||||
chr17:60483773 | C | T | 1 | a0002c0002t0004g0035 | 1 | HG01243.hp1 | intron_variant | MODIFIER | c.380-4502G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483773 | |||||||
chr17:60483804 | C | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-4533G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483804 | |||||||
chr17:60483872 | T | G | 1 | a0001c0001t0005g0065 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.380-4601A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483872 | |||||||
chr17:60483902 | T | C | 1 | a0001c0001t0001g0126 | 1 | HG01258.hp1 | intron_variant | MODIFIER | c.380-4631A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483902 | |||||||
chr17:60483910 | C | G | 64 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(61): Show |
66 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(63): Show |
intron_variant | MODIFIER | c.380-4639G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483910 | |||||||
chr17:60483944 | C | A | 8 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(5): Show |
8 | HG00639.hp2 HG01891.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.380-4673G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483944 | |||||||
chr17:60483947 | C | T | 8 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(5): Show |
8 | HG00639.hp2 HG01891.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.380-4676G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483947 | |||||||
chr17:60483999 | T | C | 1 | a0001c0001t0001g0125 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.380-4728A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60483999 | |||||||
chr17:60484058 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-4787T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484058 | |||||||
chr17:60484159 | T | C | 1 | a0001c0001t0001g0080 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.380-4888A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484159 | |||||||
chr17:60484244 | G | C | 17 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(14): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.380-4973C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484244 | |||||||
chr17:60484517 | T | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-5246A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484517 | |||||||
chr17:60484526 | ATG | A | 2 | a0001c0001t0001g0111 a0001c0001t0001g0112 |
2 | HG01099.hp2 HG02004.hp1 |
intron_variant | MODIFIER | c.380-5257_380-5256d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484526 | |||||||
chr17:60484686 | T | C | 1 | a0001c0001t0001g0093 | 1 | HG02004.hp2 | intron_variant | MODIFIER | c.380-5415A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484686 | |||||||
chr17:60484700 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-5429A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484700 | |||||||
chr17:60484714 | A | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.380-5443T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484714 | |||||||
chr17:60484747 | A | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-5476T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484747 | |||||||
chr17:60484789 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-5518C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484789 | |||||||
chr17:60484852 | C | T | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(1): Show |
4 | HG02027.hp2 HG02080.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.380-5581G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484852 | |||||||
chr17:60484877 | C | CTCTTATT others(1): Show |
25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-5607_380-5606i others(10): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484877 | |||||||
chr17:60484879 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-5608T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60484879 | |||||||
chr17:60485111 | T | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-5840A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485111 | |||||||
chr17:60485135 | G | A | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.380-5864C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485135 | |||||||
chr17:60485182 | C | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.380-5911G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485182 | |||||||
chr17:60485283 | G | A | 1 | a0001c0001t0037g0072 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.380-6012C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485283 | |||||||
chr17:60485310 | T | C | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.380-6039A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485310 | |||||||
chr17:60485333 | A | G | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.380-6062T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485333 | |||||||
chr17:60485539 | A | G | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.380-6268T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485539 | |||||||
chr17:60485624 | T | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.380-6353A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485624 | |||||||
chr17:60485658 | T | A | 1 | a0002c0002t0019g0023 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.380-6387A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485658 | |||||||
chr17:60485851 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-6580T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485851 | |||||||
chr17:60485853 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-6582G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485853 | |||||||
chr17:60485872 | T | G | 2 | a0001c0001t0001g0069 a0001c0001t0001g0136 |
2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.380-6601A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485872 | |||||||
chr17:60485949 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.380-6678C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485949 | |||||||
chr17:60485974 | A | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-6703T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485974 | |||||||
chr17:60485995 | G | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.380-6724C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60485995 | |||||||
chr17:60486145 | C | T | 3 | a0001c0001t0002g0110 a0001c0001t0002g0132 a0001c0001t0002g0133 |
3 | HG01071.hp1 HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.380-6874G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486145 | |||||||
chr17:60486146 | G | A | 3 | a0001c0001t0015g0051 a0001c0001t0015g0052 a0001c0001t0024g0050 |
3 | HG01884.hp1 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.380-6875C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486146 | |||||||
chr17:60486259 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-6988G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486259 | |||||||
chr17:60486279 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-7008G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486279 | |||||||
chr17:60486424 | T | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.380-7153A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486424 | |||||||
chr17:60486478 | GGTTTA | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.380-7212_380-7208d others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486478 | |||||||
chr17:60486521 | C | T | 17 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(14): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.380-7250G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486521 | |||||||
chr17:60486567 | T | G | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.380-7296A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486567 | |||||||
chr17:60486734 | C | T | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.380-7463G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486734 | |||||||
chr17:60486832 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.380-7561G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486832 | |||||||
chr17:60486835 | T | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.380-7564A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486835 | |||||||
chr17:60486962 | T | C | 1 | a0001c0001t0005g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.379+7504A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60486962 | |||||||
chr17:60487022 | C | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.379+7444G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487022 | |||||||
chr17:60487119 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+7347A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487119 | |||||||
chr17:60487137 | C | T | 3 | a0001c0001t0001g0128 a0001c0001t0002g0092 a0001c0001t0002g0127 |
3 | HG03704.hp1 NA19011.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.379+7329G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487137 | |||||||
chr17:60487313 | G | A | 1 | a0001c0001t0001g0125 | 1 | HG01952.hp2 | intron_variant | MODIFIER | c.379+7153C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487313 | |||||||
chr17:60487380 | CTTTG | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+7082_379+7085d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487380 | |||||||
chr17:60487501 | T | A | 14 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(11): Show |
14 | HG01346.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
intron_variant | MODIFIER | c.379+6965A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487501 | |||||||
chr17:60487523 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.379+6943G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487523 | |||||||
chr17:60487636 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+6830C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487636 | |||||||
chr17:60487758 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+6708G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60487758 | |||||||
chr17:60488012 | G | A | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.379+6454C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488012 | |||||||
chr17:60488016 | T | A | 1 | a0002c0002t0003g0026 | 1 | HG03225.hp2 | intron_variant | MODIFIER | c.379+6450A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488016 | |||||||
chr17:60488034 | G | A | 3 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 |
3 | HG03098.hp1 HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.379+6432C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488034 | |||||||
chr17:60488051 | G | A | 1 | a0001c0001t0036g0113 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.379+6415C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488051 | |||||||
chr17:60488235 | T | G | 1 | a0001c0001t0001g0096 | 1 | HG02109.hp1 | intron_variant | MODIFIER | c.379+6231A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488235 | |||||||
chr17:60488284 | G | A | 1 | a0001c0001t0002g0110 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.379+6182C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488284 | |||||||
chr17:60488327 | C | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.379+6139G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488327 | |||||||
chr17:60488670 | T | C | 1 | a0001c0001t0001g0103 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.379+5796A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488670 | |||||||
chr17:60488722 | G | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.379+5744C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488722 | |||||||
chr17:60488739 | A | G | 1 | a0002c0002t0009g0011 | 1 | HG03209.hp2 | intron_variant | MODIFIER | c.379+5727T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488739 | |||||||
chr17:60488871 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+5595C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488871 | |||||||
chr17:60488951 | G | A | 1 | a0001c0001t0001g0104 | 1 | HG01243.hp2 | intron_variant | MODIFIER | c.379+5515C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60488951 | |||||||
chr17:60489018 | T | C | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.379+5448A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489018 | |||||||
chr17:60489135 | T | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.379+5331A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489135 | |||||||
chr17:60489353 | G | A | 1 | a0002c0002t0019g0023 | 1 | NA19030.hp2 | intron_variant | MODIFIER | c.379+5113C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489353 | |||||||
chr17:60489374 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.379+5092C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489374 | |||||||
chr17:60489480 | G | A | 1 | a0001c0001t0005g0063 | 1 | HG03471.hp1 | intron_variant | MODIFIER | c.379+4986C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489480 | |||||||
chr17:60489610 | C | CA | 5 | a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0108 others(2): Show |
5 | HG01884.hp2 HG02080.hp2 HG02109.hp2 others(2): Show |
intron_variant | MODIFIER | c.379+4855dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489610 | |||||||
chr17:60489610 | C | CAAAA | 18 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0014g0021 others(15): Show |
18 | HG00639.hp2 HG01109.hp1 HG02055.hp2 others(15): Show |
intron_variant | MODIFIER | c.379+4852_379+4855d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489610 | |||||||
chr17:60489610 | C | CAAAAA | 5 | a0002c0002t0009g0019 a0002c0002t0014g0020 a0002c0002t0019g0023 others(2): Show |
5 | HG01891.hp1 HG02145.hp2 HG03471.hp2 others(2): Show |
intron_variant | MODIFIER | c.379+4851_379+4855d others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489610 | |||||||
chr17:60489677 | C | T | 15 | a0001c0001t0001g0128 a0001c0001t0002g0002 a0001c0001t0002g0003 others(12): Show |
17 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(14): Show |
intron_variant | MODIFIER | c.379+4789G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489677 | |||||||
chr17:60489701 | A | G | 2 | a0001c0001t0001g0128 a0001c0001t0002g0127 |
2 | NA19011.hp1 NA19056.hp1 |
intron_variant | MODIFIER | c.379+4765T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489701 | |||||||
chr17:60489760 | G | A | 1 | a0002c0002t0003g0029 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.379+4706C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489760 | |||||||
chr17:60489852 | A | G | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.379+4614T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489852 | |||||||
chr17:60489857 | G | GA | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+4608dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489857 | |||||||
chr17:60489863 | C | T | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.379+4603G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489863 | |||||||
chr17:60489920 | G | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.379+4546C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60489920 | |||||||
chr17:60490010 | G | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.379+4456C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490010 | |||||||
chr17:60490036 | GAAAAC | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+4425_379+4429d others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490036 | |||||||
chr17:60490036 | GAAAACAA others(3): Show |
G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.379+4420_379+4429d others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490036 | |||||||
chr17:60490051 | C | G | 1 | a0001c0001t0005g0061 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.379+4415G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490051 | |||||||
chr17:60490138 | G | A | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.379+4328C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490138 | |||||||
chr17:60490157 | C | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.379+4309G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490157 | |||||||
chr17:60490174 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+4292T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490174 | |||||||
chr17:60490189 | C | T | 2 | a0001c0001t0001g0094 a0001c0001t0001g0126 |
2 | HG01071.hp2 HG01258.hp1 |
intron_variant | MODIFIER | c.379+4277G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490189 | |||||||
chr17:60490320 | T | C | 17 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(14): Show |
17 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(14): Show |
intron_variant | MODIFIER | c.379+4146A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490320 | |||||||
chr17:60490849 | T | C | 1 | a0001c0001t0001g0079 | 1 | HG02027.hp1 | intron_variant | MODIFIER | c.379+3617A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60490849 | |||||||
chr17:60491040 | A | G | 1 | a0002c0002t0003g0029 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.379+3426T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491040 | |||||||
chr17:60491144 | A | G | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.379+3322T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491144 | |||||||
chr17:60491255 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+3211T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491255 | |||||||
chr17:60491573 | T | C | 1 | a0001c0001t0011g0057 | 1 | NA21309.hp1 | intron_variant | MODIFIER | c.379+2893A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491573 | |||||||
chr17:60491594 | G | A | 1 | a0001c0001t0001g0080 | 1 | HG00558.hp2 | intron_variant | MODIFIER | c.379+2872C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491594 | |||||||
chr17:60491597 | A | G | 1 | a0001c0001t0015g0052 | 1 | HG02559.hp2 | intron_variant | MODIFIER | c.379+2869T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491597 | |||||||
chr17:60491635 | C | G | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.379+2831G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491635 | |||||||
chr17:60491678 | CA | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+2787delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491678 | |||||||
chr17:60491812 | A | G | 1 | a0002c0002t0003g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.379+2654T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491812 | |||||||
chr17:60491949 | CCCT | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.379+2514_379+2516d others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491949 | |||||||
chr17:60491968 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.379+2498C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60491968 | |||||||
chr17:60492005 | C | A | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.379+2461G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492005 | |||||||
chr17:60492043 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.379+2423G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492043 | |||||||
chr17:60492158 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+2308C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492158 | |||||||
chr17:60492424 | G | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.379+2042C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492424 | |||||||
chr17:60492449 | C | T | 3 | a0001c0001t0015g0051 a0001c0001t0015g0052 a0001c0001t0024g0050 |
3 | HG01884.hp1 HG02559.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.379+2017G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492449 | |||||||
chr17:60492538 | G | T | 1 | a0002c0003t0007g0015 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.379+1928C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492538 | |||||||
chr17:60492847 | C | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+1619G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492847 | |||||||
chr17:60492858 | T | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.379+1608A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60492858 | |||||||
chr17:60493073 | A | G | 1 | a0002c0002t0014g0020 | 1 | HG01891.hp1 | intron_variant | MODIFIER | c.379+1393T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493073 | |||||||
chr17:60493090 | T | C | 26 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(23): Show |
26 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.379+1376A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493090 | |||||||
chr17:60493143 | C | T | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.379+1323G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493143 | |||||||
chr17:60493315 | A | G | 1 | a0001c0001t0026g0053 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.379+1151T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493315 | |||||||
chr17:60493367 | A | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.379+1099T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493367 | |||||||
chr17:60493413 | A | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.379+1053T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493413 | |||||||
chr17:60493544 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.379+922C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493544 | |||||||
chr17:60493633 | C | CT | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.379+832dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493633 | |||||||
chr17:60493633 | CTTT | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.379+830_379+832del others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493633 | |||||||
chr17:60493641 | T | C | 1 | a0001c0001t0035g0091 | 1 | HG02071.hp2 | intron_variant | MODIFIER | c.379+825A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493641 | |||||||
chr17:60493644 | CT | C | 28 | a0001c0001t0001g0075 a0001c0001t0002g0123 a0001c0001t0031g0100 others(25): Show |
28 | HG00639.hp2 HG01109.hp1 HG01168.hp1 others(25): Show |
intron_variant | MODIFIER | c.379+821delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493644 | |||||||
chr17:60493729 | T | TCC | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+735_379+736dup others(2): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493729 | |||||||
chr17:60493788 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.379+678G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493788 | |||||||
chr17:60493892 | A | G | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.379+574T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493892 | |||||||
chr17:60493911 | T | C | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.379+555A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493911 | |||||||
chr17:60493913 | C | T | 1 | a0001c0001t0001g0086 | 1 | HG06807.hp1 | intron_variant | MODIFIER | c.379+553G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60493913 | |||||||
chr17:60494059 | G | A | 5 | a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 others(2): Show |
5 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.379+407C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60494059 | |||||||
chr17:60494267 | C | T | 1 | a0001c0001t0001g0115 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.379+199G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60494267 | |||||||
chr17:60494370 | C | A | 1 | a0001c0001t0005g0064 | 1 | HG02809.hp2 | intron_variant | MODIFIER | c.379+96G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60494370 | |||||||
chr17:60494453 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.379+13G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 3/12 | chr17 | 60494453 | |||||||
chr17:60494901 | C | T | 1 | a0001c0001t0001g0099 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.228-284G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494901 | |||||||
chr17:60494947 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.228-330C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494947 | |||||||
chr17:60494964 | AGTTTTTT others(14): Show |
A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-368_228-348del others(21): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494964 | |||||||
chr17:60494984 | G | GT | 7 | a0001c0001t0001g0070 a0001c0001t0001g0081 a0001c0001t0001g0082 others(4): Show |
7 | HG01109.hp2 HG01993.hp1 HG01993.hp2 others(4): Show |
intron_variant | MODIFIER | c.228-368dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494984 | |||||||
chr17:60494984 | G | GTT | 6 | a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0112 others(3): Show |
6 | HG02004.hp1 HG02004.hp2 NA18941.hp1 others(3): Show |
intron_variant | MODIFIER | c.228-369_228-368dup others(2): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494984 | |||||||
chr17:60494986 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-369A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494986 | |||||||
chr17:60494989 | T | G | 27 | a0001c0001t0002g0123 a0001c0001t0036g0113 a0002c0002t0009g0011 others(24): Show |
27 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.228-372A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494989 | |||||||
chr17:60494990 | T | G | 44 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(41): Show |
46 | HG01099.hp1 HG01168.hp2 HG01243.hp1 others(43): Show |
intron_variant | MODIFIER | c.228-373A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60494990 | |||||||
chr17:60495038 | G | A | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.228-421C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495038 | |||||||
chr17:60495132 | GTGTCACC others(1): Show |
G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-523_228-516del others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495132 | |||||||
chr17:60495336 | G | A | 1 | a0002c0002t0020g0018 | 1 | NA19240.hp1 | intron_variant | MODIFIER | c.228-719C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495336 | |||||||
chr17:60495346 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-729C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495346 | |||||||
chr17:60495376 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-759T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495376 | |||||||
chr17:60495424 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-807T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495424 | |||||||
chr17:60495427 | TTTTATTT others(8): Show |
T | 4 | a0002c0003t0013g0024 a0002c0003t0016g0138 a0002c0003t0016g0139 others(1): Show |
4 | HG02055.hp2 HG02145.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.228-825_228-811del others(15): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495427 | |||||||
chr17:60495427 | TTTTATTT others(12): Show |
T | 4 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(1): Show |
4 | HG03098.hp1 HG03209.hp2 NA19240.hp1 others(1): Show |
intron_variant | MODIFIER | c.228-829_228-811del others(19): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495427 | |||||||
chr17:60495428 | TTTATTTA others(4): Show |
T | 8 | a0002c0002t0014g0021 a0002c0002t0018g0022 a0002c0003t0008g0005 others(5): Show |
8 | HG00639.hp2 HG01109.hp1 HG02723.hp2 others(5): Show |
intron_variant | MODIFIER | c.228-822_228-812del others(11): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495428 | |||||||
chr17:60495432 | T | A | 1 | a0002c0002t0004g0039 | 1 | HG02572.hp1 | intron_variant | MODIFIER | c.228-815A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495432 | |||||||
chr17:60495432 | TTTATTTA | T | 8 | a0002c0002t0014g0020 a0002c0002t0019g0023 a0002c0003t0007g0008 others(5): Show |
8 | HG01891.hp1 HG02886.hp1 HG02896.hp1 others(5): Show |
intron_variant | MODIFIER | c.228-822_228-816del others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495432 | |||||||
chr17:60495436 | TTTA | T | 5 | a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0036 others(2): Show |
5 | HG01168.hp2 HG01243.hp1 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.228-822_228-820del others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495436 | |||||||
chr17:60495439 | ATTAT | A | 25 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0074 others(22): Show |
25 | HG00558.hp1 HG00609.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-826_228-823del others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495439 | |||||||
chr17:60495439 | ATTATTTA others(1): Show |
A | 49 | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 others(46): Show |
51 | HG00558.hp2 HG00741.hp2 HG01071.hp1 others(48): Show |
intron_variant | MODIFIER | c.228-830_228-823del others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495439 | |||||||
chr17:60495439 | ATTATTTA others(5): Show |
A | 10 | a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0047 others(7): Show |
10 | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(7): Show |
intron_variant | MODIFIER | c.228-834_228-823del others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495439 | |||||||
chr17:60495439 | ATTATTTA others(9): Show |
A | 3 | a0001c0001t0005g0063 a0001c0001t0006g0046 a0002c0002t0025g0031 |
3 | HG02965.hp2 HG03225.hp1 HG03471.hp1 |
intron_variant | MODIFIER | c.228-838_228-823del others(16): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495439 | |||||||
chr17:60495446 | AT | A | 6 | a0002c0002t0004g0033 a0002c0002t0004g0035 a0002c0002t0004g0036 others(3): Show |
6 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.228-830delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495446 | |||||||
chr17:60495482 | A | G | 1 | a0001c0001t0031g0100 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.228-865T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495482 | |||||||
chr17:60495599 | T | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.228-982A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495599 | |||||||
chr17:60495693 | C | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.228-1076G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495693 | |||||||
chr17:60495732 | G | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.228-1115C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495732 | |||||||
chr17:60495790 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-1173T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495790 | |||||||
chr17:60495795 | A | T | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.228-1178T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60495795 | |||||||
chr17:60496082 | G | T | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.228-1465C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496082 | |||||||
chr17:60496231 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-1614C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496231 | |||||||
chr17:60496340 | G | A | 1 | a0001c0001t0001g0099 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.228-1723C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496340 | |||||||
chr17:60496504 | C | G | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.228-1887G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496504 | |||||||
chr17:60496558 | A | G | 1 | a0002c0003t0016g0138 | 1 | NA18906.hp1 | intron_variant | MODIFIER | c.228-1941T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496558 | |||||||
chr17:60496684 | A | G | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.228-2067T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496684 | |||||||
chr17:60496807 | G | A | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.228-2190C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496807 | |||||||
chr17:60496813 | C | T | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.228-2196G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60496813 | |||||||
chr17:60497375 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.228-2758T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497375 | |||||||
chr17:60497542 | A | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.227+2857T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497542 | |||||||
chr17:60497633 | T | C | 1 | a0001c0001t0005g0065 | 1 | HG03209.hp1 | intron_variant | MODIFIER | c.227+2766A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497633 | |||||||
chr17:60497866 | C | T | 138 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 others(135): Show |
142 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(139): Show |
intron_variant | MODIFIER | c.227+2533G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497866 | |||||||
chr17:60497878 | C | T | 1 | a0002c0002t0003g0028 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.227+2521G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497878 | |||||||
chr17:60497928 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+2471A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497928 | |||||||
chr17:60497933 | G | C | 2 | a0001c0001t0011g0055 a0001c0001t0011g0058 |
2 | HG02965.hp1 HG03195.hp2 |
intron_variant | MODIFIER | c.227+2466C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60497933 | |||||||
chr17:60498044 | C | T | 3 | a0001c0001t0001g0069 a0001c0001t0001g0101 a0001c0001t0001g0136 |
3 | HG02559.hp1 HG02622.hp2 NA19030.hp1 |
intron_variant | MODIFIER | c.227+2355G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498044 | |||||||
chr17:60498077 | T | C | 1 | a0001c0001t0026g0053 | 1 | HG02622.hp1 | intron_variant | MODIFIER | c.227+2322A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498077 | |||||||
chr17:60498205 | G | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.227+2194C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498205 | |||||||
chr17:60498255 | A | G | 1 | a0002c0002t0003g0028 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.227+2144T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498255 | |||||||
chr17:60498298 | T | G | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.227+2101A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498298 | |||||||
chr17:60498536 | C | T | 1 | a0001c0001t0001g0129 | 1 | HG01346.hp2 | intron_variant | MODIFIER | c.227+1863G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498536 | |||||||
chr17:60498576 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+1823T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498576 | |||||||
chr17:60498702 | G | T | 30 | a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 others(27): Show |
30 | HG00639.hp2 HG01109.hp1 HG01168.hp2 others(27): Show |
intron_variant | MODIFIER | c.227+1697C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498702 | |||||||
chr17:60498756 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+1643C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60498756 | |||||||
chr17:60499117 | G | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.227+1282C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499117 | |||||||
chr17:60499152 | G | A | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.227+1247C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499152 | |||||||
chr17:60499332 | C | CAA | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.227+1065_227+1066d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499332 | |||||||
chr17:60499346 | AT | A | 2 | a0001c0001t0001g0069 a0001c0001t0001g0136 |
2 | HG02559.hp1 NA19030.hp1 |
intron_variant | MODIFIER | c.227+1052delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499346 | |||||||
chr17:60499347 | T | A | 1 | a0002c0003t0007g0015 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.227+1052A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499347 | |||||||
chr17:60499442 | A | C | 2 | a0001c0001t0002g0132 a0001c0001t0002g0133 |
2 | HG01257.hp1 HG01258.hp2 |
intron_variant | MODIFIER | c.227+957T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499442 | |||||||
chr17:60499468 | G | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.227+931C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499468 | |||||||
chr17:60499477 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+922G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499477 | |||||||
chr17:60499528 | G | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.227+871C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499528 | |||||||
chr17:60499576 | T | A | 33 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(30): Show |
33 | HG01168.hp2 HG01243.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.227+823A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499576 | |||||||
chr17:60499766 | CATAG | C | 5 | a0002c0002t0004g0035 a0002c0002t0004g0036 a0002c0002t0004g0037 others(2): Show |
5 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.227+629_227+632del others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60499766 | |||||||
chr17:60500012 | C | CT | 14 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(11): Show |
14 | HG01346.hp1 HG02071.hp2 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.227+386dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500012 | |||||||
chr17:60500012 | CT | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+386delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500012 | |||||||
chr17:60500080 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+319A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500080 | |||||||
chr17:60500157 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.227+242G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500157 | |||||||
chr17:60500167 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.227+232G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500167 | |||||||
chr17:60500340 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.227+59C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500340 | |||||||
chr17:60500385 | A | T | 4 | a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0007 others(1): Show |
4 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.227+14T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 2/12 | chr17 | 60500385 | |||||||
chr17:60500508 | T | C | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.139-21A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60500508 | |||||||
chr17:60500642 | A | G | 1 | a0001c0001t0034g0045 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.139-155T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60500642 | |||||||
chr17:60500645 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-158A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60500645 | |||||||
chr17:60500652 | T | C | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.139-165A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60500652 | |||||||
chr17:60500803 | G | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.139-316C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60500803 | |||||||
chr17:60500812 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-325C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60500812 | |||||||
chr17:60501222 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-735C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60501222 | |||||||
chr17:60501316 | C | T | 2 | a0002c0003t0008g0005 a0002c0003t0008g0007 |
2 | HG01109.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.139-829G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60501316 | |||||||
chr17:60501882 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-1395A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60501882 | |||||||
chr17:60502034 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-1547T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502034 | |||||||
chr17:60502049 | T | TTTTA | 4 | a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0007 others(1): Show |
4 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.139-1566_139-1563d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502049 | |||||||
chr17:60502209 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-1722C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502209 | |||||||
chr17:60502311 | C | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-1824G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502311 | |||||||
chr17:60502365 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-1878C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502365 | |||||||
chr17:60502383 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-1896C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502383 | |||||||
chr17:60502442 | A | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-1955T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502442 | |||||||
chr17:60502487 | AACAATCT others(1418): Show |
A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-3425_139-2001d others(2): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502487 | |||||||
chr17:60502623 | G | T | 5 | a0001c0001t0001g0087 a0001c0001t0001g0108 a0001c0001t0001g0109 others(2): Show |
5 | HG02027.hp2 HG02080.hp2 HG02895.hp1 others(2): Show |
intron_variant | MODIFIER | c.139-2136C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502623 | |||||||
chr17:60502870 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.139-2383A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60502870 | |||||||
chr17:60503760 | A | T | 1 | a0002c0002t0003g0027 | 1 | HG01952.hp1 | intron_variant | MODIFIER | c.139-3273T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60503760 | |||||||
chr17:60503946 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-3459G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60503946 | |||||||
chr17:60504021 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-3534C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504021 | |||||||
chr17:60504092 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-3605C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504092 | |||||||
chr17:60504107 | A | G | 64 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(61): Show |
66 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(63): Show |
intron_variant | MODIFIER | c.139-3620T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504107 | |||||||
chr17:60504204 | C | T | 31 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(28): Show |
33 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.139-3717G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504204 | |||||||
chr17:60504208 | T | C | 1 | a0001c0001t0032g0068 | 1 | HG02735.hp1 | intron_variant | MODIFIER | c.139-3721A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504208 | |||||||
chr17:60504333 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-3846A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504333 | |||||||
chr17:60504678 | C | T | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.139-4191G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504678 | |||||||
chr17:60504691 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-4204C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504691 | |||||||
chr17:60504698 | G | A | 3 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 |
3 | HG03098.hp1 HG03209.hp2 NA21309.hp2 |
intron_variant | MODIFIER | c.139-4211C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504698 | |||||||
chr17:60504721 | A | T | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.139-4234T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60504721 | |||||||
chr17:60505177 | C | T | 104 | a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0081 others(101): Show |
108 | HG00558.hp1 HG00609.hp1 HG00639.hp2 others(105): Show |
intron_variant | MODIFIER | c.139-4690G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505177 | |||||||
chr17:60505274 | T | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-4787A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505274 | |||||||
chr17:60505606 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-5119G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505606 | |||||||
chr17:60505676 | G | GT | 36 | a0001c0001t0001g0070 a0001c0001t0001g0074 a0001c0001t0001g0075 others(33): Show |
36 | HG00639.hp1 HG00673.hp1 HG00741.hp1 others(33): Show |
intron_variant | MODIFIER | c.139-5190dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTT | 25 | a0001c0001t0001g0069 a0001c0001t0001g0094 a0001c0001t0001g0109 others(22): Show |
27 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(24): Show |
intron_variant | MODIFIER | c.139-5191_139-5190d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTTT | 5 | a0001c0001t0002g0085 a0001c0001t0002g0121 a0001c0001t0002g0122 others(2): Show |
5 | HG01257.hp1 HG02056.hp1 HG03195.hp2 others(2): Show |
intron_variant | MODIFIER | c.139-5192_139-5190d others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTTTTTTT others(2): Show |
7 | a0002c0002t0009g0013 a0002c0002t0014g0020 a0002c0002t0014g0021 others(4): Show |
7 | HG01891.hp1 HG02896.hp1 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.139-5198_139-5190d others(11): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTTTTTTT others(3): Show |
8 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0008g0005 others(5): Show |
8 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(5): Show |
intron_variant | MODIFIER | c.139-5199_139-5190d others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTTTTTTT others(4): Show |
3 | a0002c0003t0010g0012 a0002c0003t0016g0138 a0002c0003t0016g0139 |
3 | HG02055.hp2 HG03098.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.139-5200_139-5190d others(13): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTTTTTTT others(5): Show |
1 | a0002c0003t0039g0140 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.139-5201_139-5190d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | G | GTTTTTTT others(9): Show |
1 | a0002c0003t0007g0015 | 1 | HG03516.hp1 | intron_variant | MODIFIER | c.139-5205_139-5190d others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | GTTT | G | 5 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(2): Show |
5 | HG01243.hp1 HG02572.hp1 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.139-5192_139-5190d others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505676 | GTTTTTTT others(3): Show |
G | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.139-5199_139-5190d others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505676 | |||||||
chr17:60505687 | T | TG | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.139-5201_139-5200i others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505687 | |||||||
chr17:60505692 | T | G | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.139-5205A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505692 | |||||||
chr17:60505696 | T | G | 1 | a0002c0002t0003g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.139-5209A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505696 | |||||||
chr17:60505732 | G | A | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.139-5245C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505732 | |||||||
chr17:60505752 | C | T | 4 | a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0007 others(1): Show |
4 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.139-5265G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505752 | |||||||
chr17:60505828 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-5341G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505828 | |||||||
chr17:60505877 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-5390G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505877 | |||||||
chr17:60505926 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-5439T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505926 | |||||||
chr17:60505986 | C | CT | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.139-5500dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60505986 | |||||||
chr17:60506027 | A | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-5540T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506027 | |||||||
chr17:60506201 | T | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-5714A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506201 | |||||||
chr17:60506271 | G | A | 1 | a0001c0001t0001g0112 | 1 | HG02004.hp1 | intron_variant | MODIFIER | c.139-5784C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506271 | |||||||
chr17:60506535 | T | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-6048A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506535 | |||||||
chr17:60506739 | T | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-6252A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506739 | |||||||
chr17:60506751 | T | A | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(1): Show |
4 | HG02027.hp2 HG02080.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.139-6264A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506751 | |||||||
chr17:60506751 | T | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.139-6264A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60506751 | |||||||
chr17:60507033 | T | A | 1 | a0001c0001t0001g0074 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.139-6546A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507033 | |||||||
chr17:60507119 | T | G | 26 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(23): Show |
26 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.139-6632A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507119 | |||||||
chr17:60507167 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-6680T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507167 | |||||||
chr17:60507204 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-6717T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507204 | |||||||
chr17:60507226 | CT | C | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.139-6740delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507226 | |||||||
chr17:60507293 | C | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-6806G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507293 | |||||||
chr17:60507343 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-6856A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507343 | |||||||
chr17:60507431 | A | G | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.139-6944T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507431 | |||||||
chr17:60507564 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-7077T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507564 | |||||||
chr17:60507707 | C | T | 65 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(62): Show |
67 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(64): Show |
intron_variant | MODIFIER | c.139-7220G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507707 | |||||||
chr17:60507717 | A | G | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.139-7230T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507717 | |||||||
chr17:60507841 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-7354T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507841 | |||||||
chr17:60507849 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-7362C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60507849 | |||||||
chr17:60508030 | T | C | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.139-7543A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508030 | |||||||
chr17:60508147 | T | A | 1 | a0001c0001t0002g0110 | 1 | HG01071.hp1 | intron_variant | MODIFIER | c.139-7660A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508147 | |||||||
chr17:60508393 | T | TA | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.139-7907dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508393 | |||||||
chr17:60508394 | A | T | 26 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(23): Show |
26 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.139-7907T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508394 | |||||||
chr17:60508395 | A | T | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.139-7908T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508395 | |||||||
chr17:60508417 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-7930A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508417 | |||||||
chr17:60508474 | G | C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-7987C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508474 | |||||||
chr17:60508614 | T | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-8127A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508614 | |||||||
chr17:60508871 | A | G | 4 | a0001c0001t0011g0055 a0001c0001t0011g0057 a0001c0001t0011g0058 others(1): Show |
4 | HG01346.hp1 HG02965.hp1 HG03195.hp2 others(1): Show |
intron_variant | MODIFIER | c.139-8384T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60508871 | |||||||
chr17:60509107 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-8620T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509107 | |||||||
chr17:60509134 | C | T | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.139-8647G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509134 | |||||||
chr17:60509155 | G | A | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.139-8668C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509155 | |||||||
chr17:60509209 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-8722T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509209 | |||||||
chr17:60509335 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-8848G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509335 | |||||||
chr17:60509557 | C | A | 1 | a0001c0001t0001g0077 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.139-9070G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509557 | |||||||
chr17:60509609 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-9122G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509609 | |||||||
chr17:60509667 | T | A | 24 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(21): Show |
24 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.139-9180A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509667 | |||||||
chr17:60509784 | A | G | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.139-9297T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509784 | |||||||
chr17:60509999 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-9512C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60509999 | |||||||
chr17:60510032 | T | TAAAAGAA others(1427): Show |
1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.139-9546_139-9545i others(1436): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510032 | |||||||
chr17:60510211 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-9724C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510211 | |||||||
chr17:60510266 | G | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-9779C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510266 | |||||||
chr17:60510339 | G | A | 2 | a0001c0001t0001g0104 a0001c0001t0037g0072 |
2 | HG00741.hp2 HG01243.hp2 |
intron_variant | MODIFIER | c.139-9852C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510339 | |||||||
chr17:60510549 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-10062G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510549 | |||||||
chr17:60510555 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-10068T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510555 | |||||||
chr17:60510559 | C | CA | 14 | a0001c0001t0001g0128 a0001c0001t0002g0002 a0001c0001t0002g0003 others(11): Show |
16 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(13): Show |
intron_variant | MODIFIER | c.139-10073dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510559 | |||||||
chr17:60510566 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-10079T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510566 | |||||||
chr17:60510597 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-10110G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510597 | |||||||
chr17:60510655 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-10168C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510655 | |||||||
chr17:60510662 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.139-10175C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510662 | |||||||
chr17:60510694 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-10207T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510694 | |||||||
chr17:60510796 | A | G | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-10309T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510796 | |||||||
chr17:60510956 | TC | T | 92 | a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0108 others(89): Show |
96 | HG00558.hp1 HG00609.hp1 HG00639.hp2 others(93): Show |
intron_variant | MODIFIER | c.139-10470delG | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60510956 | |||||||
chr17:60511152 | CAT | C | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(1): Show |
4 | HG02027.hp2 HG02080.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.139-10667_139-1066 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511152 | |||||||
chr17:60511169 | A | T | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.139-10682T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511169 | |||||||
chr17:60511231 | A | T | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.139-10744T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511231 | |||||||
chr17:60511247 | C | T | 1 | a0001c0001t0031g0100 | 1 | NA19074.hp2 | intron_variant | MODIFIER | c.139-10760G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511247 | |||||||
chr17:60511315 | G | A | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.139-10828C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511315 | |||||||
chr17:60511401 | A | G | 1 | a0001c0001t0006g0047 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.139-10914T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511401 | |||||||
chr17:60511525 | C | T | 2 | a0002c0002t0014g0020 a0002c0002t0014g0021 |
2 | HG01891.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.139-11038G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511525 | |||||||
chr17:60511553 | C | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.139-11066G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511553 | |||||||
chr17:60511562 | C | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-11075G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511562 | |||||||
chr17:60511581 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-11094A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511581 | |||||||
chr17:60511582 | G | GA | 30 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(27): Show |
32 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(29): Show |
intron_variant | MODIFIER | c.139-11096dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511582 | |||||||
chr17:60511583 | A | G | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.139-11096T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511583 | |||||||
chr17:60511994 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-11507C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60511994 | |||||||
chr17:60512103 | TTATTA | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-11621_139-1161 others(9): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512103 | |||||||
chr17:60512104 | TATTA | T | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.139-11621_139-1161 others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512104 | |||||||
chr17:60512105 | A | AT | 7 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(4): Show |
7 | HG02572.hp2 HG02809.hp2 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.139-11619dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512105 | |||||||
chr17:60512105 | A | ATT | 2 | a0002c0003t0013g0025 a0002c0003t0016g0139 |
2 | HG02055.hp2 HG02896.hp1 |
intron_variant | MODIFIER | c.139-11620_139-1161 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512105 | |||||||
chr17:60512105 | A | T | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.139-11618T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512105 | |||||||
chr17:60512108 | A | ATT | 19 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(16): Show |
19 | HG01109.hp1 HG01891.hp1 HG02145.hp2 others(16): Show |
intron_variant | MODIFIER | c.139-11623_139-1162 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512108 | |||||||
chr17:60512108 | A | T | 29 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(26): Show |
29 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(26): Show |
intron_variant | MODIFIER | c.139-11621T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512108 | |||||||
chr17:60512109 | T | TTA | 2 | a0002c0003t0007g0017 a0002c0003t0013g0024 |
2 | HG02896.hp2 HG02897.hp1 |
intron_variant | MODIFIER | c.139-11623_139-1162 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512109 | |||||||
chr17:60512111 | T | A | 1 | a0002c0002t0003g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.139-11624A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512111 | |||||||
chr17:60512113 | C | T | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.139-11626G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512113 | |||||||
chr17:60512188 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-11701A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512188 | |||||||
chr17:60512191 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-11704A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512191 | |||||||
chr17:60512791 | C | CA | 139 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 others(136): Show |
143 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(140): Show |
intron_variant | MODIFIER | c.139-12305_139-1230 others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512791 | |||||||
chr17:60512832 | T | TA | 13 | a0001c0001t0001g0090 a0001c0001t0001g0099 a0001c0001t0002g0117 others(10): Show |
15 | HG01099.hp1 HG01952.hp1 HG02056.hp2 others(12): Show |
intron_variant | MODIFIER | c.139-12346dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512832 | |||||||
chr17:60512832 | T | TAA | 21 | a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0002g0002 others(18): Show |
23 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(20): Show |
intron_variant | MODIFIER | c.139-12347_139-1234 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512832 | |||||||
chr17:60512832 | T | TAAAAA | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.139-12350_139-1234 others(9): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512832 | |||||||
chr17:60512832 | T | TAAAAAAA others(6): Show |
1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.139-12358_139-1234 others(17): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512832 | |||||||
chr17:60512855 | G | A | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.139-12368C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512855 | |||||||
chr17:60512860 | G | A | 31 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(28): Show |
33 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.139-12373C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512860 | |||||||
chr17:60512906 | G | A | 2 | a0002c0002t0004g0033 a0002c0002t0004g0034 |
2 | HG03041.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.139-12419C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512906 | |||||||
chr17:60512947 | T | A | 1 | a0001c0001t0001g0084 | 1 | HG02280.hp1 | intron_variant | MODIFIER | c.139-12460A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512947 | |||||||
chr17:60512958 | C | CT | 41 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(38): Show |
43 | HG01099.hp1 HG01168.hp2 HG01243.hp1 others(40): Show |
intron_variant | MODIFIER | c.139-12472dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512958 | |||||||
chr17:60512958 | CTTT | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-12474_139-1247 others(7): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512958 | |||||||
chr17:60512987 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-12500G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512987 | |||||||
chr17:60512999 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.139-12512C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60512999 | |||||||
chr17:60513003 | C | T | 1 | a0001c0001t0001g0067 | 1 | HG02735.hp2 | intron_variant | MODIFIER | c.139-12516G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513003 | |||||||
chr17:60513035 | G | A | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.139-12548C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513035 | |||||||
chr17:60513050 | C | G | 1 | a0001c0001t0001g0105 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.139-12563G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513050 | |||||||
chr17:60513101 | G | A | 2 | a0002c0002t0004g0033 a0002c0002t0004g0034 |
2 | HG03041.hp1 NA20300.hp1 |
intron_variant | MODIFIER | c.139-12614C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513101 | |||||||
chr17:60513195 | A | C | 12 | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0085 others(9): Show |
14 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(11): Show |
intron_variant | MODIFIER | c.138+12599T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513195 | |||||||
chr17:60513199 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+12595C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513199 | |||||||
chr17:60513211 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+12583C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513211 | |||||||
chr17:60513235 | A | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+12559T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513235 | |||||||
chr17:60513279 | CTCAA | C | 5 | a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 others(2): Show |
5 | HG02027.hp1 NA18968.hp2 NA19007.hp2 others(2): Show |
intron_variant | MODIFIER | c.138+12511_138+1251 others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513279 | |||||||
chr17:60513371 | T | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.138+12423A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513371 | |||||||
chr17:60513412 | C | T | 3 | a0001c0001t0012g0073 a0001c0001t0012g0116 a0001c0001t0012g0134 |
3 | HG02895.hp2 HG02897.hp2 NA19240.hp2 |
intron_variant | MODIFIER | c.138+12382G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513412 | |||||||
chr17:60513434 | A | G | 1 | a0001c0001t0001g0124 | 1 | NA18971.hp2 | intron_variant | MODIFIER | c.138+12360T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513434 | |||||||
chr17:60513473 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+12321A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513473 | |||||||
chr17:60513492 | A | G | 1 | a0001c0001t0001g0135 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.138+12302T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513492 | |||||||
chr17:60513501 | C | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+12293G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513501 | |||||||
chr17:60513817 | A | C | 64 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(61): Show |
66 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(63): Show |
intron_variant | MODIFIER | c.138+11977T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513817 | |||||||
chr17:60513827 | G | A | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.138+11967C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513827 | |||||||
chr17:60513854 | A | AC | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+11939_138+1194 others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513854 | |||||||
chr17:60513900 | T | C | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.138+11894A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513900 | |||||||
chr17:60513997 | T | TA | 14 | a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0097 others(11): Show |
16 | HG01099.hp1 HG01168.hp1 HG01258.hp1 others(13): Show |
intron_variant | MODIFIER | c.138+11796dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513997 | |||||||
chr17:60513997 | TA | T | 56 | a0001c0001t0001g0086 a0001c0001t0001g0104 a0001c0001t0001g0105 others(53): Show |
58 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(55): Show |
intron_variant | MODIFIER | c.138+11796delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513997 | |||||||
chr17:60513997 | TAA | T | 27 | a0001c0001t0023g0040 a0002c0002t0009g0011 a0002c0002t0009g0013 others(24): Show |
27 | HG00639.hp2 HG01109.hp1 HG01884.hp2 others(24): Show |
intron_variant | MODIFIER | c.138+11795_138+1179 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60513997 | |||||||
chr17:60514015 | A | C | 29 | a0001c0001t0001g0069 a0001c0001t0001g0086 a0001c0001t0001g0101 others(26): Show |
31 | HG00558.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
intron_variant | MODIFIER | c.138+11779T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514015 | |||||||
chr17:60514318 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+11476T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514318 | |||||||
chr17:60514659 | G | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.138+11135C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514659 | |||||||
chr17:60514672 | C | T | 100 | a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0081 others(97): Show |
104 | HG00558.hp1 HG00609.hp1 HG00639.hp2 others(101): Show |
intron_variant | MODIFIER | c.138+11122G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514672 | |||||||
chr17:60514693 | C | CAAGT | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+11097_138+1110 others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514693 | |||||||
chr17:60514861 | C | T | 1 | a0001c0001t0001g0103 | 1 | NA18747.hp2 | intron_variant | MODIFIER | c.138+10933G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514861 | |||||||
chr17:60514963 | C | T | 2 | a0002c0002t0014g0020 a0002c0002t0014g0021 |
2 | HG01891.hp1 HG03540.hp2 |
intron_variant | MODIFIER | c.138+10831G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514963 | |||||||
chr17:60514986 | T | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+10808A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60514986 | |||||||
chr17:60515029 | CCT | C | 14 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(11): Show |
14 | HG01346.hp1 HG02109.hp2 HG02572.hp2 others(11): Show |
intron_variant | MODIFIER | c.138+10763_138+1076 others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515029 | |||||||
chr17:60515086 | C | G | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.138+10708G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515086 | |||||||
chr17:60515112 | A | AT | 31 | a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0120 others(28): Show |
31 | HG00639.hp2 HG01109.hp1 HG01243.hp2 others(28): Show |
intron_variant | MODIFIER | c.138+10681dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515112 | |||||||
chr17:60515112 | AT | A | 7 | a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0111 others(4): Show |
7 | HG00673.hp1 HG01099.hp2 HG01257.hp2 others(4): Show |
intron_variant | MODIFIER | c.138+10681delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515112 | |||||||
chr17:60515546 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+10248G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515546 | |||||||
chr17:60515759 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+10035G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515759 | |||||||
chr17:60515804 | G | C | 69 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(66): Show |
71 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(68): Show |
intron_variant | MODIFIER | c.138+9990C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515804 | |||||||
chr17:60515965 | G | A | 4 | a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0007 others(1): Show |
4 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(1): Show |
intron_variant | MODIFIER | c.138+9829C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60515965 | |||||||
chr17:60516063 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+9731T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516063 | |||||||
chr17:60516128 | A | G | 9 | a0001c0001t0006g0042 a0001c0001t0006g0044 a0001c0001t0006g0046 others(6): Show |
9 | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(6): Show |
intron_variant | MODIFIER | c.138+9666T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516128 | |||||||
chr17:60516174 | A | C | 24 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(21): Show |
24 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.138+9620T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516174 | |||||||
chr17:60516175 | C | A | 24 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(21): Show |
24 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(21): Show |
intron_variant | MODIFIER | c.138+9619G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516175 | |||||||
chr17:60516180 | A | C | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.138+9614T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516180 | |||||||
chr17:60516186 | C | A | 1 | a0001c0001t0030g0043 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.138+9608G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516186 | |||||||
chr17:60516243 | C | T | 7 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(4): Show |
7 | HG02572.hp2 HG02809.hp2 HG03139.hp2 others(4): Show |
intron_variant | MODIFIER | c.138+9551G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516243 | |||||||
chr17:60516473 | C | T | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+9321G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516473 | |||||||
chr17:60516638 | C | A | 2 | a0002c0003t0010g0010 a0002c0003t0010g0014 |
2 | HG03041.hp2 NA18522.hp2 |
intron_variant | MODIFIER | c.138+9156G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516638 | |||||||
chr17:60516752 | T | C | 1 | a0001c0001t0001g0074 | 1 | HG00639.hp1 | intron_variant | MODIFIER | c.138+9042A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60516752 | |||||||
chr17:60517096 | C | T | 1 | a0001c0001t0001g0102 | 1 | HG02148.hp2 | intron_variant | MODIFIER | c.138+8698G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60517096 | |||||||
chr17:60517975 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+7819A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60517975 | |||||||
chr17:60518068 | C | CG | 24 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(21): Show |
24 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(21): Show |
intron_variant | MODIFIER | c.138+7725_138+7726i others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518068 | |||||||
chr17:60518068 | C | CT | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+7725dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518068 | |||||||
chr17:60518068 | CT | C | 78 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 others(75): Show |
80 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(77): Show |
intron_variant | MODIFIER | c.138+7725delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518068 | |||||||
chr17:60518068 | CTT | C | 26 | a0001c0001t0001g0075 a0001c0001t0005g0060 a0001c0001t0005g0061 others(23): Show |
26 | HG01168.hp1 HG01346.hp1 HG01884.hp1 others(23): Show |
intron_variant | MODIFIER | c.138+7724_138+7725d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518068 | |||||||
chr17:60518210 | T | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+7584A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518210 | |||||||
chr17:60518345 | CCGTGTGT others(5): Show |
C | 2 | a0002c0002t0018g0022 a0002c0003t0007g0016 |
2 | HG00639.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.138+7437_138+7448d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518345 | |||||||
chr17:60518346 | CGTGTGTG others(7): Show |
C | 8 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(5): Show |
8 | HG01891.hp1 HG02896.hp1 HG03098.hp1 others(5): Show |
intron_variant | MODIFIER | c.138+7434_138+7447d others(16): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518346 | |||||||
chr17:60518346 | CGTGTGTG others(9): Show |
C | 4 | a0002c0002t0020g0018 a0002c0003t0007g0009 a0002c0003t0010g0010 others(1): Show |
4 | HG02886.hp1 HG03041.hp2 NA18522.hp2 others(1): Show |
intron_variant | MODIFIER | c.138+7432_138+7447d others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518346 | |||||||
chr17:60518346 | CGTGTGTG others(11): Show |
C | 1 | a0002c0003t0007g0008 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.138+7430_138+7447d others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518346 | |||||||
chr17:60518348 | TGTGTGCG others(3): Show |
T | 5 | a0002c0003t0008g0005 a0002c0003t0008g0006 a0002c0003t0008g0007 others(2): Show |
5 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(2): Show |
intron_variant | MODIFIER | c.138+7436_138+7445d others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518348 | |||||||
chr17:60518350 | TGTGCGTG others(1): Show |
T | 4 | a0002c0002t0019g0023 a0002c0003t0007g0017 a0002c0003t0013g0024 others(1): Show |
4 | HG02055.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
intron_variant | MODIFIER | c.138+7436_138+7443d others(10): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518350 | |||||||
chr17:60518358 | C | CGT | 5 | a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0081 others(2): Show |
5 | HG01993.hp2 HG02027.hp1 NA19007.hp2 others(2): Show |
intron_variant | MODIFIER | c.138+7434_138+7435d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGT | C | 22 | a0001c0001t0001g0069 a0001c0001t0001g0076 a0001c0001t0001g0093 others(19): Show |
22 | HG00741.hp1 HG00741.hp2 HG01071.hp1 others(19): Show |
intron_variant | MODIFIER | c.138+7434_138+7435d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGTGT | C | 23 | a0001c0001t0001g0075 a0001c0001t0001g0097 a0001c0001t0001g0098 others(20): Show |
23 | HG01168.hp1 HG01168.hp2 HG01243.hp1 others(20): Show |
intron_variant | MODIFIER | c.138+7432_138+7435d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGTGTGT | C | 14 | a0001c0001t0005g0137 a0001c0001t0006g0042 a0001c0001t0006g0044 others(11): Show |
14 | HG01346.hp1 HG02055.hp1 HG02109.hp2 others(11): Show |
intron_variant | MODIFIER | c.138+7430_138+7435d others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGTGTGTG others(1): Show |
C | 14 | a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0005g0063 others(11): Show |
14 | HG01891.hp2 HG02572.hp2 HG02809.hp2 others(11): Show |
intron_variant | MODIFIER | c.138+7428_138+7435d others(10): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGTGTGTG others(3): Show |
C | 6 | a0001c0001t0005g0061 a0002c0002t0003g0001 a0002c0002t0003g0026 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+7426_138+7435d others(12): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGTGTGTG others(7): Show |
C | 2 | a0001c0001t0001g0104 a0002c0002t0003g0030 |
2 | HG01243.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.138+7422_138+7435d others(16): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518358 | CGTGTGTG others(15): Show |
C | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.138+7414_138+7435d others(24): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518358 | |||||||
chr17:60518364 | T | C | 2 | a0001c0001t0001g0101 a0001c0001t0023g0040 |
2 | HG01884.hp2 HG02622.hp2 |
intron_variant | MODIFIER | c.138+7430A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518364 | |||||||
chr17:60518366 | T | C | 2 | a0001c0001t0001g0102 a0001c0001t0001g0103 |
2 | HG02148.hp2 NA18747.hp2 |
intron_variant | MODIFIER | c.138+7428A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518366 | |||||||
chr17:60518422 | T | G | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+7372A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518422 | |||||||
chr17:60518437 | T | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+7357A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518437 | |||||||
chr17:60518503 | C | CGT | 25 | a0001c0001t0001g0077 a0001c0001t0001g0080 a0002c0002t0009g0011 others(22): Show |
25 | HG00558.hp2 HG00639.hp2 HG01109.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+7289_138+7290d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGT | 2 | a0002c0003t0007g0008 a0002c0003t0017g0004 |
2 | HG02723.hp2 HG03486.hp2 |
intron_variant | MODIFIER | c.138+7287_138+7290d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(5): Show |
1 | a0001c0001t0006g0049 | 1 | HG01891.hp2 | intron_variant | MODIFIER | c.138+7279_138+7290d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(7): Show |
2 | a0001c0001t0005g0065 a0001c0001t0023g0040 |
2 | HG01884.hp2 HG03209.hp1 |
intron_variant | MODIFIER | c.138+7277_138+7290d others(16): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(9): Show |
9 | a0001c0001t0005g0062 a0001c0001t0005g0063 a0001c0001t0005g0064 others(6): Show |
11 | HG01099.hp1 HG01168.hp2 HG01952.hp1 others(8): Show |
intron_variant | MODIFIER | c.138+7275_138+7290d others(18): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(11): Show |
5 | a0001c0001t0030g0043 a0002c0002t0003g0026 a0002c0002t0004g0035 others(2): Show |
5 | HG01243.hp1 HG02451.hp2 HG02723.hp1 others(2): Show |
intron_variant | MODIFIER | c.138+7273_138+7290d others(20): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(13): Show |
11 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0137 others(8): Show |
11 | HG01346.hp1 HG02055.hp1 HG02109.hp2 others(8): Show |
intron_variant | MODIFIER | c.138+7271_138+7290d others(22): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(15): Show |
6 | a0001c0001t0006g0042 a0001c0001t0006g0046 a0001c0001t0015g0052 others(3): Show |
6 | HG02451.hp1 HG02559.hp2 HG02622.hp1 others(3): Show |
intron_variant | MODIFIER | c.138+7269_138+7290d others(24): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(17): Show |
5 | a0001c0001t0006g0044 a0001c0001t0015g0051 a0001c0001t0024g0050 others(2): Show |
5 | HG01884.hp1 HG02717.hp2 HG03041.hp1 others(2): Show |
intron_variant | MODIFIER | c.138+7267_138+7290d others(26): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518503 | C | CGTGTGTG others(21): Show |
1 | a0001c0001t0034g0045 | 1 | HG02280.hp2 | intron_variant | MODIFIER | c.138+7290_138+7291i others(30): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518503 | |||||||
chr17:60518512 | G | A | 1 | a0001c0001t0001g0105 | 1 | HG03516.hp2 | intron_variant | MODIFIER | c.138+7282C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518512 | |||||||
chr17:60518566 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+7228T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518566 | |||||||
chr17:60518581 | T | C | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.138+7213A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518581 | |||||||
chr17:60518619 | C | T | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+7175G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518619 | |||||||
chr17:60518644 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+7150A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518644 | |||||||
chr17:60518652 | T | C | 1 | a0001c0001t0002g0106 | 1 | HG02071.hp1 | intron_variant | MODIFIER | c.138+7142A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518652 | |||||||
chr17:60518662 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+7132A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518662 | |||||||
chr17:60518732 | A | G | 1 | a0001c0001t0001g0066 | 1 | NA19074.hp1 | intron_variant | MODIFIER | c.138+7062T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518732 | |||||||
chr17:60518776 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+7018A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518776 | |||||||
chr17:60518836 | CTTT | C | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.138+6955_138+6957d others(5): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518836 | |||||||
chr17:60518904 | G | C | 2 | a0001c0001t0001g0114 a0001c0001t0001g0115 |
2 | HG00673.hp1 HG02080.hp1 |
intron_variant | MODIFIER | c.138+6890C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518904 | |||||||
chr17:60518961 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+6833G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518961 | |||||||
chr17:60518972 | C | G | 8 | a0001c0001t0001g0070 a0002c0002t0004g0033 a0002c0002t0004g0034 others(5): Show |
8 | HG01168.hp2 HG01243.hp1 HG01993.hp1 others(5): Show |
intron_variant | MODIFIER | c.138+6822G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60518972 | |||||||
chr17:60519034 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+6760G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519034 | |||||||
chr17:60519082 | C | T | 1 | a0002c0003t0007g0009 | 1 | HG02886.hp1 | intron_variant | MODIFIER | c.138+6712G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519082 | |||||||
chr17:60519129 | A | AT | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+6664dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519129 | |||||||
chr17:60519175 | C | A | 2 | a0002c0002t0018g0022 a0002c0002t0020g0018 |
2 | HG00639.hp2 NA19240.hp1 |
intron_variant | MODIFIER | c.138+6619G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519175 | |||||||
chr17:60519264 | CTTATTT | C | 33 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(30): Show |
33 | HG01168.hp2 HG01243.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.138+6524_138+6529d others(8): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519264 | |||||||
chr17:60519390 | T | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+6404A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519390 | |||||||
chr17:60519457 | T | A | 60 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(57): Show |
60 | HG00639.hp2 HG01109.hp1 HG01168.hp2 others(57): Show |
intron_variant | MODIFIER | c.138+6337A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519457 | |||||||
chr17:60519501 | A | AT | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+6292dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519501 | |||||||
chr17:60519543 | G | T | 3 | a0001c0001t0002g0002 a0001c0001t0002g0121 a0001c0001t0002g0122 |
4 | NA18955.hp1 NA18968.hp1 NA19007.hp1 others(1): Show |
intron_variant | MODIFIER | c.138+6251C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519543 | |||||||
chr17:60519778 | A | AT | 26 | a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0120 others(23): Show |
26 | HG00639.hp2 HG01891.hp1 HG02027.hp1 others(23): Show |
intron_variant | MODIFIER | c.138+6015dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519778 | |||||||
chr17:60519778 | AT | A | 30 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(27): Show |
32 | HG01099.hp1 HG01346.hp1 HG01884.hp1 others(29): Show |
intron_variant | MODIFIER | c.138+6015delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519778 | |||||||
chr17:60519787 | T | TC | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+6006_138+6007i others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519787 | |||||||
chr17:60519986 | G | T | 1 | a0001c0001t0002g0119 | 1 | HG00558.hp1 | intron_variant | MODIFIER | c.138+5808C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60519986 | |||||||
chr17:60520097 | T | C | 1 | a0001c0001t0012g0073 | 1 | NA19240.hp2 | intron_variant | MODIFIER | c.138+5697A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520097 | |||||||
chr17:60520116 | G | T | 1 | a0001c0001t0001g0076 | 1 | NA18983.hp2 | intron_variant | MODIFIER | c.138+5678C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520116 | |||||||
chr17:60520243 | T | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+5551A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520243 | |||||||
chr17:60520274 | A | T | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+5520T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520274 | |||||||
chr17:60520316 | T | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+5478A>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520316 | |||||||
chr17:60520589 | A | AT | 26 | a0001c0001t0006g0042 a0001c0001t0030g0043 a0002c0002t0009g0011 others(23): Show |
26 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(23): Show |
intron_variant | MODIFIER | c.138+5204_138+5205i others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520589 | |||||||
chr17:60520589 | A | T | 1 | a0002c0003t0013g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.138+5205T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520589 | |||||||
chr17:60520590 | A | AAATC | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+5203_138+5204i others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520590 | |||||||
chr17:60520590 | A | AC | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.138+5203_138+5204i others(3): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520590 | |||||||
chr17:60520590 | A | ATC | 32 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(29): Show |
34 | HG01099.hp1 HG01346.hp1 HG01884.hp1 others(31): Show |
intron_variant | MODIFIER | c.138+5203_138+5204i others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520590 | |||||||
chr17:60520590 | A | C | 27 | a0001c0001t0006g0042 a0001c0001t0030g0043 a0002c0002t0009g0011 others(24): Show |
27 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(24): Show |
intron_variant | MODIFIER | c.138+5204T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520590 | |||||||
chr17:60520992 | C | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+4802G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60520992 | |||||||
chr17:60521005 | C | A | 31 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(28): Show |
33 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(30): Show |
intron_variant | MODIFIER | c.138+4789G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521005 | |||||||
chr17:60521080 | C | A | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.138+4714G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521080 | |||||||
chr17:60521156 | T | C | 1 | a0002c0002t0003g0029 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.138+4638A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521156 | |||||||
chr17:60521265 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+4529T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521265 | |||||||
chr17:60521432 | CCAGT | C | 4 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0130 others(1): Show |
4 | HG02027.hp2 HG02080.hp2 NA18983.hp1 others(1): Show |
intron_variant | MODIFIER | c.138+4358_138+4361d others(6): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521432 | |||||||
chr17:60521498 | T | C | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+4296A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521498 | |||||||
chr17:60521553 | C | T | 33 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(30): Show |
33 | HG01168.hp2 HG01243.hp1 HG01346.hp1 others(30): Show |
intron_variant | MODIFIER | c.138+4241G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521553 | |||||||
chr17:60521580 | CT | C | 6 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(3): Show |
8 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(5): Show |
intron_variant | MODIFIER | c.138+4213delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521580 | |||||||
chr17:60521614 | GC | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+4179delG | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521614 | |||||||
chr17:60521778 | A | AT | 16 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0007g0015 others(13): Show |
16 | HG01109.hp1 HG02055.hp2 HG02145.hp2 others(13): Show |
intron_variant | MODIFIER | c.138+4015dupA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521778 | |||||||
chr17:60521928 | C | T | 1 | a0001c0001t0001g0111 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.138+3866G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521928 | |||||||
chr17:60521932 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+3862G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60521932 | |||||||
chr17:60522042 | A | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+3752T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522042 | |||||||
chr17:60522104 | G | A | 7 | a0002c0002t0004g0033 a0002c0002t0004g0034 a0002c0002t0004g0035 others(4): Show |
7 | HG01168.hp2 HG01243.hp1 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+3690C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522104 | |||||||
chr17:60522358 | T | C | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+3436A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522358 | |||||||
chr17:60522842 | T | C | 1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.138+2952A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522842 | |||||||
chr17:60522861 | CT | C | 7 | a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0131 others(4): Show |
7 | HG00639.hp1 HG01168.hp1 HG01884.hp1 others(4): Show |
intron_variant | MODIFIER | c.138+2932delA | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522861 | |||||||
chr17:60522872 | T | A | 17 | a0001c0001t0002g0110 a0001c0001t0002g0132 a0001c0001t0002g0133 others(14): Show |
17 | HG01071.hp1 HG01257.hp1 HG01258.hp2 others(14): Show |
intron_variant | MODIFIER | c.138+2922A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522872 | |||||||
chr17:60522873 | T | A | 96 | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 others(93): Show |
98 | HG00558.hp1 HG00558.hp2 HG00609.hp1 others(95): Show |
intron_variant | MODIFIER | c.138+2921A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522873 | |||||||
chr17:60522873 | TA | T | 6 | a0002c0003t0007g0017 a0002c0003t0010g0014 a0002c0003t0013g0024 others(3): Show |
6 | HG02055.hp2 HG02145.hp2 HG02896.hp2 others(3): Show |
intron_variant | MODIFIER | c.138+2920delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522873 | |||||||
chr17:60522874 | A | T | 19 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(16): Show |
19 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(16): Show |
intron_variant | MODIFIER | c.138+2920T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522874 | |||||||
chr17:60522875 | A | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+2919T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522875 | |||||||
chr17:60522876 | A | T | 2 | a0002c0002t0020g0018 a0002c0003t0007g0015 |
2 | HG03516.hp1 NA19240.hp1 |
intron_variant | MODIFIER | c.138+2918T>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522876 | |||||||
chr17:60522920 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+2874G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60522920 | |||||||
chr17:60523004 | G | T | 3 | a0002c0003t0007g0008 a0002c0003t0007g0009 a0002c0003t0013g0025 |
3 | HG02886.hp1 HG02896.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.138+2790C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523004 | |||||||
chr17:60523271 | T | C | 6 | a0001c0001t0001g0070 a0001c0001t0001g0111 a0001c0001t0001g0112 others(3): Show |
6 | HG00673.hp1 HG01099.hp2 HG01993.hp1 others(3): Show |
intron_variant | MODIFIER | c.138+2523A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523271 | |||||||
chr17:60523459 | C | T | 1 | a0001c0001t0037g0072 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.138+2335G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523459 | |||||||
chr17:60523503 | A | G | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+2291T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523503 | |||||||
chr17:60523527 | T | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+2267A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523527 | |||||||
chr17:60523602 | G | A | 1 | a0002c0002t0025g0031 | 1 | HG02965.hp2 | intron_variant | MODIFIER | c.138+2192C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523602 | |||||||
chr17:60523650 | G | A | 2 | a0001c0001t0012g0116 a0001c0001t0012g0134 |
2 | HG02895.hp2 HG02897.hp2 |
intron_variant | MODIFIER | c.138+2144C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523650 | |||||||
chr17:60523685 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+2109T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523685 | |||||||
chr17:60523867 | G | A | 1 | a0002c0003t0013g0025 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.138+1927C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523867 | |||||||
chr17:60523929 | C | G | 1 | a0001c0001t0002g0117 | 1 | NA18941.hp2 | intron_variant | MODIFIER | c.138+1865G>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60523929 | |||||||
chr17:60524010 | C | T | 25 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(22): Show |
25 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(22): Show |
intron_variant | MODIFIER | c.138+1784G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524010 | |||||||
chr17:60524027 | T | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+1767A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524027 | |||||||
chr17:60524080 | G | C | 1 | a0001c0001t0001g0071 | 1 | HG01257.hp2 | intron_variant | MODIFIER | c.138+1714C>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524080 | |||||||
chr17:60524256 | G | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+1538C>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524256 | |||||||
chr17:60524533 | GA | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+1260delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524533 | |||||||
chr17:60524561 | T | A | 1 | a0002c0002t0003g0030 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.138+1233A>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524561 | |||||||
chr17:60524610 | G | GA | 22 | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0124 others(19): Show |
24 | HG00558.hp1 HG00609.hp1 HG00609.hp2 others(21): Show |
intron_variant | MODIFIER | c.138+1183dupT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524610 | G | GAAAAAAA others(5): Show |
1 | a0001c0001t0023g0040 | 1 | HG01884.hp2 | intron_variant | MODIFIER | c.138+1172_138+1183d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524610 | GA | G | 10 | a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 others(7): Show |
10 | HG01257.hp2 HG01993.hp1 HG02559.hp1 others(7): Show |
intron_variant | MODIFIER | c.138+1183delT | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524610 | GAA | G | 13 | a0001c0001t0001g0066 a0002c0002t0003g0030 a0002c0002t0009g0011 others(10): Show |
13 | HG01109.hp1 HG02723.hp2 HG02809.hp1 others(10): Show |
intron_variant | MODIFIER | c.138+1182_138+1183d others(4): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524610 | GAAAAAAA others(2): Show |
G | 26 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(23): Show |
26 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.138+1175_138+1183d others(11): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524610 | GAAAAAAA others(4): Show |
G | 1 | a0002c0002t0027g0032 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.138+1173_138+1183d others(13): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524610 | GAAAAAAA others(5): Show |
G | 5 | a0002c0002t0003g0001 a0002c0002t0003g0026 a0002c0002t0003g0027 others(2): Show |
7 | HG01099.hp1 HG01952.hp1 HG02886.hp2 others(4): Show |
intron_variant | MODIFIER | c.138+1172_138+1183d others(14): Show |
APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524610 | |||||||
chr17:60524663 | C | T | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+1131G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524663 | |||||||
chr17:60524702 | G | A | 66 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(63): Show |
68 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(65): Show |
intron_variant | MODIFIER | c.138+1092C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524702 | |||||||
chr17:60524856 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+938C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524856 | |||||||
chr17:60524922 | G | A | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+872C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60524922 | |||||||
chr17:60525014 | A | C | 26 | a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0062 others(23): Show |
26 | HG01346.hp1 HG01884.hp1 HG01891.hp2 others(23): Show |
intron_variant | MODIFIER | c.138+780T>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525014 | |||||||
chr17:60525407 | A | G | 1 | a0001c0001t0002g0041 | 1 | NA19011.hp2 | intron_variant | MODIFIER | c.138+387T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525407 | |||||||
chr17:60525471 | C | A | 1 | a0001c0001t0001g0135 | 1 | HG00609.hp2 | intron_variant | MODIFIER | c.138+323G>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525471 | |||||||
chr17:60525477 | G | A | 1 | a0001c0001t0001g0136 | 1 | HG02559.hp1 | intron_variant | MODIFIER | c.138+317C>T | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525477 | |||||||
chr17:60525640 | T | C | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+154A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525640 | |||||||
chr17:60525642 | T | C | 1 | a0001c0001t0005g0137 | 1 | HG02109.hp2 | intron_variant | MODIFIER | c.138+152A>G | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525642 | |||||||
chr17:60525656 | A | G | 25 | a0002c0002t0009g0011 a0002c0002t0009g0013 a0002c0002t0009g0019 others(22): Show |
25 | HG00639.hp2 HG01109.hp1 HG01891.hp1 others(22): Show |
intron_variant | MODIFIER | c.138+138T>C | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525656 | |||||||
chr17:60525692 | C | T | 41 | a0001c0001t0023g0040 a0002c0002t0003g0001 a0002c0002t0003g0026 others(38): Show |
43 | HG00639.hp2 HG01099.hp1 HG01109.hp1 others(40): Show |
intron_variant | MODIFIER | c.138+102G>A | APPBP2 | ENSG00000062725.10 | transcript | ENST00000083182.8 | protein_coding | 1/12 | chr17 | 60525692 |