Item | Value |
---|---|
geneid | 149013 |
ensemblid | ENSG00000268043.9 |
hgncid | 24297 |
symbol | NBPF12 |
name | NBPF member 12 |
refseq_nuc | NM_001278141.3 |
refseq_prot | NP_001265070.1 |
ensembl_nuc | ENST00000698835.1 |
ensembl_prot | ENSP00000513971.1 |
mane_status | MANE Select |
chr | chr1 |
start | 146938324 |
end | 146996198 |
strand | + |
ver | v1.2 |
region | chr1:146938324-146996198 |
region5000 | chr1:146933324-147001198 |
regionname0 | NBPF12_chr1_146938324_146996198 |
regionname5000 | NBPF12_chr1_146933324_147001198 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 1457 | 27 | 3 | 9 | 15 | 0 | 0 | 9 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0002 | 0/0 | 1460 | 27 | 0 | 13 | 11 | 0 | 3 | 8 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1455): Show |
chr1 | 146933324 | 147001198 |
a0003 | 0/0 | 958 | 19 | 4 | 6 | 4 | 0 | 5 | 3 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(953): Show |
chr1 | 146933324 | 147001198 |
a0004 | 1/1 | 1457 | 14 | 4 | 6 | 0 | 2 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0005 | 0/0 | 1457 | 4 | 4 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0006 | 0/0 | 958 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(953): Show |
chr1 | 146933324 | 147001198 |
a0007 | 0/0 | 1457 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0008 | 0/0 | 1457 | 2 | 0 | 1 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0009 | 0/0 | 1457 | 2 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0010 | 0/0 | 1186 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1181): Show |
chr1 | 146933324 | 147001198 |
a0011 | 0/0 | 958 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVLSA others(953): Show |
chr1 | 146933324 | 147001198 |
a0012 | 0/0 | 1457 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0013 | 0/0 | 1457 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0014 | 0/0 | 1457 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0015 | 0/0 | 1311 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1306): Show |
chr1 | 146933324 | 147001198 |
a0016 | 0/0 | 1211 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVLSA others(1206): Show |
chr1 | 146933324 | 147001198 |
a0017 | 0/0 | 1457 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0018 | 0/0 | 958 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(953): Show |
chr1 | 146933324 | 147001198 |
a0019 | 0/0 | 1457 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0020 | 0/0 | 1457 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0021 | 0/0 | 1457 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0022 | 0/0 | 958 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(953): Show |
chr1 | 146933324 | 147001198 |
a0023 | 0/0 | 1457 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
a0024 | 0/0 | 1189 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1184): Show |
chr1 | 146933324 | 147001198 |
a0025 | 0/0 | 1213 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1208): Show |
chr1 | 146933324 | 147001198 |
a0026 | 0/0 | 1311 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1306): Show |
chr1 | 146933324 | 147001198 |
a0027 | 0/0 | 1308 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1303): Show |
chr1 | 146933324 | 147001198 |
a0028 | 0/0 | 1457 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | MVVSA others(1452): Show |
chr1 | 146933324 | 147001198 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 4371 | 25 | 3 | 9 | 13 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0001c0013 | 0/0 | 4371 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0001c0014 | 0/0 | 4371 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0002c0002 | 0/0 | 4380 | 16 | 0 | 6 | 7 | 0 | 3 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4375): Show |
chr1 | 146933324 | 147001198 | ||
a0002c0005 | 0/0 | 4380 | 6 | 0 | 5 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4375): Show |
chr1 | 146933324 | 147001198 | ||
a0002c0010 | 0/0 | 4380 | 2 | 0 | 0 | 2 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4375): Show |
chr1 | 146933324 | 147001198 | ||
a0002c0031 | 0/0 | 4380 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4375): Show |
chr1 | 146933324 | 147001198 | ||
a0002c0032 | 0/0 | 4380 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4375): Show |
chr1 | 146933324 | 147001198 | ||
a0002c0033 | 0/0 | 4380 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4375): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0004 | 0/0 | 5911 | 12 | 2 | 5 | 4 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(5906): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0021 | 0/0 | 5911 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(5906): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0022 | 0/0 | 5911 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(5906): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0023 | 0/0 | 7450 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(7445): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0024 | 0/0 | 12208 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(12203): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0025 | 0/0 | 10666 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(10661): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0026 | 0/0 | 16955 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(16950): Show |
chr1 | 146933324 | 147001198 | ||
a0003c0027 | 0/0 | 5911 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(5906): Show |
chr1 | 146933324 | 147001198 | ||
a0004c0003 | 1/1 | 4371 | 13 | 3 | 6 | 0 | 2 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0004c0039 | 0/0 | 4371 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0005c0006 | 0/0 | 4371 | 4 | 4 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0006c0007 | 0/0 | 5911 | 3 | 3 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(5906): Show |
chr1 | 146933324 | 147001198 | ||
a0007c0008 | 0/0 | 4371 | 3 | 3 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0008c0011 | 0/0 | 4371 | 2 | 0 | 1 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0009c0009 | 0/0 | 4371 | 2 | 1 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0010c0012 | 0/0 | 3558 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(3553): Show |
chr1 | 146933324 | 147001198 | ||
a0011c0043 | 0/0 | 9096 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(9091): Show |
chr1 | 146933324 | 147001198 | ||
a0011c0044 | 0/0 | 9098 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(9093): Show |
chr1 | 146933324 | 147001198 | ||
a0012c0040 | 0/0 | 4371 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0013c0015 | 0/0 | 4371 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0014c0038 | 0/0 | 4371 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0015c0034 | 0/0 | 10684 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(10679): Show |
chr1 | 146933324 | 147001198 | ||
a0016c0042 | 0/0 | 3633 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(3628): Show |
chr1 | 146933324 | 147001198 | ||
a0017c0018 | 0/0 | 4371 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0018c0035 | 0/0 | 16977 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(16972): Show |
chr1 | 146933324 | 147001198 | ||
a0019c0017 | 0/0 | 4371 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0020c0041 | 0/0 | 4371 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0021c0016 | 0/0 | 4371 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0022c0037 | 0/0 | 16977 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(16972): Show |
chr1 | 146933324 | 147001198 | ||
a0023c0036 | 0/0 | 4371 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 | ||
a0024c0019 | 0/0 | 3567 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(3562): Show |
chr1 | 146933324 | 147001198 | ||
a0025c0020 | 0/0 | 3639 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(3634): Show |
chr1 | 146933324 | 147001198 | ||
a0026c0030 | 0/0 | 10682 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(10677): Show |
chr1 | 146933324 | 147001198 | ||
a0027c0029 | 0/0 | 9129 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(9124): Show |
chr1 | 146933324 | 147001198 | ||
a0028c0028 | 0/0 | 4371 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | ATGGT others(4366): Show |
chr1 | 146933324 | 147001198 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002 | 0/0 | 7430 | 20 | 0 | 7 | 13 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0001c0001t0008 | 0/0 | 7430 | 3 | 3 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0001c0001t0011 | 0/0 | 7430 | 2 | 0 | 2 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0001c0013t0002 | 0/0 | 7430 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0001c0014t0002 | 0/0 | 7430 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0002c0002t0003 | 0/0 | 7444 | 13 | 0 | 5 | 7 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0002c0002t0013 | 0/0 | 7443 | 2 | 0 | 0 | 0 | 0 | 2 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7438): Show |
chr1 | 146933324 | 147001198 |
a0002c0002t0024 | 0/0 | 7444 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0002c0005t0005 | 0/0 | 7444 | 6 | 0 | 5 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0002c0010t0003 | 0/0 | 7444 | 2 | 0 | 0 | 2 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0002c0031t0003 | 0/0 | 7444 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0002c0032t0003 | 0/0 | 7444 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0002c0033t0005 | 0/0 | 7444 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7439): Show |
chr1 | 146933324 | 147001198 |
a0003c0004t0001 | 0/0 | 8974 | 11 | 2 | 4 | 4 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(8969): Show |
chr1 | 146933324 | 147001198 |
a0003c0004t0025 | 0/0 | 8974 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(8969): Show |
chr1 | 146933324 | 147001198 |
a0003c0021t0001 | 0/0 | 8974 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(8969): Show |
chr1 | 146933324 | 147001198 |
a0003c0022t0001 | 0/0 | 8974 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(8969): Show |
chr1 | 146933324 | 147001198 |
a0003c0023t0001 | 0/0 | 10513 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(10508): Show |
chr1 | 146933324 | 147001198 |
a0003c0024t0001 | 0/0 | 15271 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(15266): Show |
chr1 | 146933324 | 147001198 |
a0003c0025t0001 | 0/0 | 13729 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(13724): Show |
chr1 | 146933324 | 147001198 |
a0003c0026t0001 | 0/0 | 20018 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(20013): Show |
chr1 | 146933324 | 147001198 |
a0003c0027t0001 | 0/0 | 8974 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(8969): Show |
chr1 | 146933324 | 147001198 |
a0004c0003t0004 | 1/1 | 7435 | 11 | 3 | 4 | 0 | 2 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0004c0003t0027 | 0/0 | 7436 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7431): Show |
chr1 | 146933324 | 147001198 |
a0004c0003t0028 | 0/0 | 7435 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0004c0039t0007 | 0/0 | 7523 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7518): Show |
chr1 | 146933324 | 147001198 |
a0005c0006t0006 | 0/0 | 7435 | 3 | 3 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0005c0006t0014 | 0/0 | 7435 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0006c0007t0001 | 0/0 | 8974 | 3 | 3 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(8969): Show |
chr1 | 146933324 | 147001198 |
a0007c0008t0012 | 0/0 | 7435 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0007c0008t0015 | 0/0 | 7436 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7431): Show |
chr1 | 146933324 | 147001198 |
a0008c0011t0004 | 0/0 | 7435 | 2 | 0 | 1 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0009c0009t0007 | 0/0 | 7523 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7518): Show |
chr1 | 146933324 | 147001198 |
a0009c0009t0026 | 0/0 | 7523 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7518): Show |
chr1 | 146933324 | 147001198 |
a0010c0012t0004 | 0/0 | 6622 | 2 | 2 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(6617): Show |
chr1 | 146933324 | 147001198 |
a0011c0043t0009 | 0/0 | 12160 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(12155): Show |
chr1 | 146933324 | 147001198 |
a0011c0044t0017 | 0/0 | 12162 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(12157): Show |
chr1 | 146933324 | 147001198 |
a0012c0040t0004 | 0/0 | 7435 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0013c0015t0021 | 0/0 | 7430 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0014c0038t0007 | 0/0 | 7523 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7518): Show |
chr1 | 146933324 | 147001198 |
a0015c0034t0005 | 0/0 | 13748 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(13743): Show |
chr1 | 146933324 | 147001198 |
a0016c0042t0009 | 0/0 | 6697 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(6692): Show |
chr1 | 146933324 | 147001198 |
a0017c0018t0018 | 0/0 | 7435 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0018c0035t0010 | 0/0 | 20041 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(20036): Show |
chr1 | 146933324 | 147001198 |
a0019c0017t0019 | 0/0 | 7435 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0020c0041t0020 | 0/0 | 7435 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7430): Show |
chr1 | 146933324 | 147001198 |
a0021c0016t0022 | 0/0 | 7430 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7425): Show |
chr1 | 146933324 | 147001198 |
a0022c0037t0010 | 0/0 | 20041 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(20036): Show |
chr1 | 146933324 | 147001198 |
a0023c0036t0016 | 0/0 | 7347 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7342): Show |
chr1 | 146933324 | 147001198 |
a0024c0019t0023 | 0/0 | 6631 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(6626): Show |
chr1 | 146933324 | 147001198 |
a0025c0020t0001 | 0/0 | 6702 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(6697): Show |
chr1 | 146933324 | 147001198 |
a0026c0030t0003 | 0/0 | 13746 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(13741): Show |
chr1 | 146933324 | 147001198 |
a0027c0029t0001 | 0/0 | 12192 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(12187): Show |
chr1 | 146933324 | 147001198 |
a0028c0028t0001 | 0/0 | 7434 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | GGAAG others(7429): Show |
chr1 | 146933324 | 147001198 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002g0080 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0081 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0082 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0083 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0084 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0085 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0086 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0087 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0088 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0090 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0092 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0094 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0095 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0096 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0097 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0098 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0099 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0100 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0101 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0002g0105 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0008g0091 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0008g0104 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0008g0115 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0001t0011g0002 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0013t0002g0089 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0001c0014t0002g0093 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0011 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0012 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0014 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0026 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0027 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0030 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0003g0032 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0013g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0013g0007 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0002t0024g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0005t0005g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0005t0005g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0005t0005g0018 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0005t0005g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0005t0005g0020 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0005t0005g0021 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0010t0003g0008 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0010t0003g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0031t0003g0031 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0032t0003g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0002c0033t0005g0023 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0033 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0041 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0042 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0044 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0050 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0051 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0052 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0054 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0079 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0001g0116 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0004t0025g0055 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0021t0001g0047 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0022t0001g0048 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0023t0001g0049 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0024t0001g0053 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0025t0001g0040 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0026t0001g0046 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0003c0027t0001g0034 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0001 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0056 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0057 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0058 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0059 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0061 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0062 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0064 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0067 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0004g0068 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0027g0066 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0003t0028g0071 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0004c0039t0007g0076 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0005c0006t0006g0110 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0005c0006t0006g0111 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0005c0006t0006g0114 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0005c0006t0014g0109 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0006c0007t0001g0035 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0006c0007t0001g0039 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0006c0007t0001g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0007c0008t0012g0107 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0007c0008t0012g0108 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0007c0008t0015g0106 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0008c0011t0004g0065 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0008c0011t0004g0070 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0009c0009t0007g0077 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0009c0009t0026g0117 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0010c0012t0004g0060 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0010c0012t0004g0063 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0011c0043t0009g0120 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0011c0044t0017g0119 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0012c0040t0004g0069 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0013c0015t0021g0103 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0014c0038t0007g0075 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0015c0034t0005g0022 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0016c0042t0009g0118 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0017c0018t0018g0113 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0018c0035t0010g0074 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0019c0017t0019g0112 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0020c0041t0020g0078 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0021c0016t0022g0102 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0022c0037t0010g0073 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0023c0036t0016g0072 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0024c0019t0023g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0025c0020t0001g0043 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0026c0030t0003g0028 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0027c0029t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
a0028c0028t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00280 | hp1 | a0012 | c0040 | t0004 | g0069 | EUR | FIN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00280 | hp2 | a0008 | c0011 | t0004 | g0070 | EUR | FIN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00544 | hp1 | a0001 | c0001 | t0002 | g0087 | EAS | CHS | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00544 | hp2 | a0001 | c0013 | t0002 | g0089 | EAS | CHS | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00609 | hp1 | a0001 | c0001 | t0002 | g0094 | EAS | CHS | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00609 | hp2 | a0001 | c0001 | t0002 | g0083 | EAS | CHS | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00639 | hp1 | a0003 | c0004 | t0001 | g0050 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00639 | hp2 | a0008 | c0011 | t0004 | g0065 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00673 | hp1 | a0001 | c0014 | t0002 | g0093 | EAS | CHS | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00673 | hp2 | a0003 | c0004 | t0001 | g0042 | EAS | CHS | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00735 | hp1 | a0013 | c0015 | t0021 | g0103 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG00735 | hp2 | a0001 | c0001 | t0002 | g0084 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01071 | hp1 | a0004 | c0003 | t0004 | g0058 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01071 | hp2 | a0003 | c0004 | t0025 | g0055 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01081 | hp1 | a0001 | c0001 | t0002 | g0082 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01081 | hp2 | a0002 | c0005 | t0005 | g0019 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01099 | hp1 | a0002 | c0032 | t0003 | g0004 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01099 | hp2 | a0003 | c0024 | t0001 | g0053 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01109 | hp1 | a0004 | c0003 | t0028 | g0071 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01109 | hp2 | a0002 | c0002 | t0003 | g0026 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01192 | hp1 | a0004 | c0003 | t0004 | g0061 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01192 | hp2 | a0003 | c0004 | t0001 | g0051 | AMR | PUR | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01255 | hp1 | a0004 | c0003 | t0004 | g0001 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01255 | hp2 | a0001 | c0001 | t0011 | g0002 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01261 | hp1 | a0002 | c0005 | t0005 | g0021 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01261 | hp2 | a0004 | c0003 | t0027 | g0066 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01346 | hp1 | a0003 | c0004 | t0001 | g0054 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01346 | hp2 | a0004 | c0003 | t0004 | g0001 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01358 | hp1 | a0002 | c0005 | t0005 | g0020 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01358 | hp2 | a0002 | c0002 | t0003 | g0030 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01433 | hp1 | a0001 | c0001 | t0011 | g0002 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01433 | hp2 | a0014 | c0038 | t0007 | g0075 | AMR | CLM | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01928 | hp1 | a0001 | c0001 | t0002 | g0081 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01928 | hp2 | a0015 | c0034 | t0005 | g0022 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01943 | hp1 | a0002 | c0002 | t0024 | g0016 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01943 | hp2 | a0001 | c0001 | t0002 | g0085 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01978 | hp1 | a0002 | c0002 | t0003 | g0025 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01978 | hp2 | a0002 | c0002 | t0003 | g0032 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01981 | hp1 | a0002 | c0005 | t0005 | g0018 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG01981 | hp2 | a0002 | c0002 | t0003 | g0015 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02056 | hp1 | a0001 | c0001 | t0002 | g0096 | EAS | KHV | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02056 | hp2 | a0002 | c0005 | t0005 | g0005 | EAS | KHV | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02129 | hp1 | a0002 | c0031 | t0003 | g0031 | EAS | KHV | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02129 | hp2 | a0002 | c0002 | t0003 | g0027 | EAS | KHV | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02145 | hp1 | a0009 | c0009 | t0026 | g0117 | AFR | ACB | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02145 | hp2 | a0016 | c0042 | t0009 | g0118 | AFR | ACB | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02148 | hp1 | a0001 | c0001 | t0002 | g0095 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02148 | hp2 | a0002 | c0005 | t0005 | g0017 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02258 | hp1 | a0017 | c0018 | t0018 | g0113 | AFR | ACB | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02258 | hp2 | a0010 | c0012 | t0004 | g0063 | AFR | ACB | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02273 | hp1 | a0003 | c0004 | t0001 | g0052 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02273 | hp2 | a0001 | c0001 | t0002 | g0088 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02293 | hp1 | a0002 | c0033 | t0005 | g0023 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02293 | hp2 | a0001 | c0001 | t0002 | g0098 | AMR | PEL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02451 | hp1 | a0004 | c0003 | t0004 | g0059 | AFR | ACB | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02451 | hp2 | a0001 | c0001 | t0008 | g0091 | AFR | ACB | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02602 | hp1 | a0002 | c0002 | t0013 | g0006 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02602 | hp2 | a0009 | c0009 | t0007 | g0077 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02647 | hp1 | a0011 | c0044 | t0017 | g0119 | AFR | GWD | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02647 | hp2 | a0018 | c0035 | t0010 | g0074 | AFR | GWD | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02698 | hp1 | a0003 | c0004 | t0001 | g0079 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02698 | hp2 | a0003 | c0025 | t0001 | g0040 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02895 | hp1 | a0001 | c0001 | t0008 | g0115 | AFR | GWD | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02895 | hp2 | a0003 | c0026 | t0001 | g0046 | AFR | GWD | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02896 | hp1 | a0001 | c0001 | t0008 | g0104 | AFR | GWD | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02896 | hp2 | a0006 | c0007 | t0001 | g0035 | AFR | GWD | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02922 | hp1 | a0003 | c0004 | t0001 | g0116 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02922 | hp2 | a0005 | c0006 | t0006 | g0110 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02965 | hp1 | a0007 | c0008 | t0012 | g0107 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG02965 | hp2 | a0004 | c0003 | t0004 | g0064 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03098 | hp1 | a0007 | c0008 | t0015 | g0106 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03098 | hp2 | a0010 | c0012 | t0004 | g0060 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03130 | hp1 | a0005 | c0006 | t0006 | g0111 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03130 | hp2 | a0007 | c0008 | t0012 | g0108 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03139 | hp1 | a0019 | c0017 | t0019 | g0112 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03139 | hp2 | a0020 | c0041 | t0020 | g0078 | AFR | ESN | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03239 | hp1 | a0003 | c0023 | t0001 | g0049 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03239 | hp2 | a0002 | c0002 | t0013 | g0007 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03453 | hp1 | a0003 | c0027 | t0001 | g0034 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03453 | hp2 | a0011 | c0043 | t0009 | g0120 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03486 | hp1 | a0004 | c0039 | t0007 | g0076 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03486 | hp2 | a0005 | c0006 | t0006 | g0114 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03579 | hp1 | a0003 | c0004 | t0001 | g0044 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03579 | hp2 | a0005 | c0006 | t0014 | g0109 | AFR | MSL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03704 | hp1 | a0003 | c0021 | t0001 | g0047 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG03704 | hp2 | a0021 | c0016 | t0022 | g0102 | SAS | PJL | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG04204 | hp1 | a0002 | c0002 | t0003 | g0024 | SAS | STU | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG04204 | hp2 | a0003 | c0022 | t0001 | g0048 | SAS | STU | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18522 | hp1 | a0023 | c0036 | t0016 | g0072 | AFR | YRI | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18522 | hp2 | a0006 | c0007 | t0001 | g0045 | AFR | YRI | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18906 | hp1 | a0004 | c0003 | t0004 | g0068 | AFR | YRI | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18906 | hp2 | a0024 | c0019 | t0023 | g0029 | AFR | YRI | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18939 | hp1 | a0002 | c0010 | t0003 | g0009 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18939 | hp2 | a0001 | c0001 | t0002 | g0105 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18947 | hp1 | a0001 | c0001 | t0002 | g0101 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18947 | hp2 | a0025 | c0020 | t0001 | g0043 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18949 | hp1 | a0002 | c0002 | t0003 | g0013 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18949 | hp2 | a0001 | c0001 | t0002 | g0080 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18950 | hp1 | a0002 | c0010 | t0003 | g0008 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18950 | hp2 | a0001 | c0001 | t0002 | g0090 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18952 | hp1 | a0026 | c0030 | t0003 | g0028 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18952 | hp2 | a0003 | c0004 | t0001 | g0033 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18968 | hp1 | a0001 | c0001 | t0002 | g0097 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18968 | hp2 | a0027 | c0029 | t0001 | g0038 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18970 | hp1 | a0002 | c0002 | t0003 | g0014 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA18970 | hp2 | a0003 | c0004 | t0001 | g0041 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19002 | hp1 | a0002 | c0002 | t0003 | g0003 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19002 | hp2 | a0001 | c0001 | t0002 | g0086 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19010 | hp1 | a0001 | c0001 | t0002 | g0100 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19010 | hp2 | a0002 | c0002 | t0003 | g0011 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19056 | hp1 | a0028 | c0028 | t0001 | g0037 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19056 | hp2 | a0001 | c0001 | t0002 | g0092 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19070 | hp1 | a0001 | c0001 | t0002 | g0099 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19070 | hp2 | a0002 | c0002 | t0003 | g0012 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19085 | hp1 | a0003 | c0004 | t0001 | g0036 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA19085 | hp2 | a0002 | c0002 | t0003 | g0010 | EAS | JPT | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA20805 | hp1 | a0004 | c0003 | t0004 | g0057 | EUR | TSI | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
NA20805 | hp2 | a0004 | c0003 | t0004 | g0067 | EUR | TSI | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG06807 | hp1 | a0006 | c0007 | t0001 | g0039 | AFR | USA | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
HG06807 | hp2 | a0022 | c0037 | t0010 | g0073 | AFR | USA | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
homoSapiens | chm13v2 | a0004 | c0003 | t0004 | g0062 | REF | REF | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
homoSapiens | grch38p0 | a0004 | c0003 | t0004 | g0056 | REF | REF | NBPF12_chr1_146933324_147001198 | NBPF12 | chr1 | 146933324 | 147001198 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:146960150 | G | T | 2 | a0011 a0016 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.7G>T | p.Val3Leu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/37 | 1445/7435 | 7/4374 | 3/1457 | chr1 | 146960150 | |||
chr1:146960166 | G | T | 1 | a0020 | 1 | HG03139.hp2 | missense_variant | MODERATE | c.23G>T | p.Trp8Leu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/37 | 1461/7435 | 23/4374 | 8/1457 | chr1 | 146960166 | |||
chr1:146960192 | A | C | 1 | a0012 | 1 | HG00280.hp1 | missense_variant | MODERATE | c.49A>C | p.Ile17Leu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/37 | 1487/7435 | 49/4374 | 17/1457 | chr1 | 146960192 | |||
chr1:146963201 | G | A | 1 | a0001 | 27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
missense_variant | MODERATE | c.385G>A | p.Ala129Thr | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/37 | 1823/7435 | 385/4374 | 129/1457 | chr1 | 146963201 | |||
chr1:146963870 | CACTGGAG others(6283): Show |
C | 1 | a0010 | 2 | HG02258.hp2 HG03098.hp2 |
exon_loss_variant | HIGH | c.494-249_1307-250de others(1): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/37 | INFO_REALIGN_3_PRIME | chr1 | 146963870 | ||||||
chr1:146964946 | G | A | 2 | a0011 a0016 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.620G>A | p.Cys207Tyr | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/37 | 2058/7435 | 620/4374 | 207/1457 | chr1 | 146964946 | |||
chr1:146964988 | T | A | 4 | a0005 a0009 a0017 others(1): Show |
8 | HG02145.hp1 HG02258.hp1 HG02602.hp2 others(5): Show |
missense_variant | MODERATE | c.662T>A | p.Ile221Asn | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/37 | 2100/7435 | 662/4374 | 221/1457 | chr1 | 146964988 | |||
chr1:146965041 | A | T | 3 | a0005 a0017 a0019 |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
missense_variant | MODERATE | c.715A>T | p.Thr239Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/37 | 2153/7435 | 715/4374 | 239/1457 | chr1 | 146965041 | |||
chr1:146965044 | G | C | 3 | a0005 a0017 a0019 |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
missense_variant | MODERATE | c.718G>C | p.Val240Leu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/37 | 2156/7435 | 718/4374 | 240/1457 | chr1 | 146965044 | |||
chr1:146965059 | A | G | 3 | a0005 a0017 a0019 |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
missense_variant | MODERATE | c.733A>G | p.Lys245Glu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/37 | 2171/7435 | 733/4374 | 245/1457 | chr1 | 146965059 | |||
chr1:146966637 | C | G | 2 | a0007 a0017 |
4 | HG02258.hp1 HG02965.hp1 HG03098.hp1 others(1): Show |
missense_variant | MODERATE | c.952C>G | p.Leu318Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/37 | 2390/7435 | 952/4374 | 318/1457 | chr1 | 146966637 | |||
chr1:146966643 | G | T | 3 | a0007 a0017 a0019 |
5 | HG02258.hp1 HG02965.hp1 HG03098.hp1 others(2): Show |
missense_variant | MODERATE | c.958G>T | p.Gly320Cys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/37 | 2396/7435 | 958/4374 | 320/1457 | chr1 | 146966643 | |||
chr1:146968471 | A | C | 2 | a0008 a0012 |
3 | HG00280.hp1 HG00280.hp2 HG00639.hp2 |
missense_variant | MODERATE | c.1012A>C | p.Ile338Leu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/37 | 2450/7435 | 1012/4374 | 338/1457 | chr1 | 146968471 | |||
chr1:146968516 | C | G | 1 | a0007 | 3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
missense_variant | MODERATE | c.1057C>G | p.Leu353Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/37 | 2495/7435 | 1057/4374 | 353/1457 | chr1 | 146968516 | |||
chr1:146968574 | GCAGGGGG others(6284): Show |
G | 1 | a0024 | 1 | NA18906.hp2 | exon_loss_variant | HIGH | c.1091+58_1904+57del | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/37 | INFO_REALIGN_3_PRIME | chr1 | 146968574 | ||||||
chr1:146969443 | C | T | 1 | a0004 | 1 | HG02451.hp1 | missense_variant | MODERATE | c.1153C>T | p.Arg385Trp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/37 | 2591/7435 | 1153/4374 | 385/1457 | chr1 | 146969443 | |||
chr1:146970102 | GGTGTGGT others(6282): Show |
G | 1 | a0007 | 3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
exon_loss_variant | HIGH | c.1306+519_2119+512d others(2): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | INFO_REALIGN_3_PRIME | chr1 | 146970102 | ||||||
chr1:146970676 | C | T | 2 | a0013 a0021 |
2 | HG00735.hp1 HG03704.hp2 |
stop_gained | HIGH | c.1336C>T | p.Gln446* | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | 2774/7435 | 1336/4374 | 446/1457 | chr1 | 146970676 | |||
chr1:146970712 | T | G | 1 | a0002 | 1 | HG01099.hp1 | missense_variant | MODERATE | c.1372T>G | p.Ser458Ala | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | 2810/7435 | 1372/4374 | 458/1457 | chr1 | 146970712 | |||
chr1:146971187 | A | G | 2 | a0011 a0016 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.1384A>G | p.Met462Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/37 | 2822/7435 | 1384/4374 | 462/1457 | chr1 | 146971187 | |||
chr1:146971196 | G | T | 1 | a0013 | 1 | HG00735.hp1 | missense_variant | MODERATE | c.1393G>T | p.Ala465Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/37 | 2831/7435 | 1393/4374 | 465/1457 | chr1 | 146971196 | |||
chr1:146971204 | A | C | 4 | a0011 a0013 a0016 others(1): Show |
5 | HG00735.hp1 HG02145.hp2 HG02647.hp1 others(2): Show |
missense_variant | MODERATE | c.1401A>C | p.Glu467Asp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/37 | 2839/7435 | 1401/4374 | 467/1457 | chr1 | 146971204 | |||
chr1:146971278 | A | T | 4 | a0018 a0020 a0022 others(1): Show |
4 | HG02647.hp2 HG03139.hp2 HG06807.hp2 others(1): Show |
missense_variant | MODERATE | c.1475A>T | p.Asn492Ile | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/37 | 2913/7435 | 1475/4374 | 492/1457 | chr1 | 146971278 | |||
chr1:146971349 | G | A | 2 | a0018 a0022 |
2 | HG02647.hp2 HG06807.hp2 |
missense_variant | MODERATE | c.1546G>A | p.Glu516Lys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/37 | 2984/7435 | 1546/4374 | 516/1457 | chr1 | 146971349 | |||
chr1:146972879 | A | G | 1 | a0013 | 1 | HG00735.hp1 | missense_variant | MODERATE | c.1720A>G | p.Lys574Glu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/37 | 3158/7435 | 1720/4374 | 574/1457 | chr1 | 146972879 | |||
chr1:146972960 | A | G | 3 | a0002 a0015 a0026 |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
missense_variant&splice_region_variant | MODERATE | c.1801A>G | p.Lys601Glu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/37 | 3239/7435 | 1801/4374 | 601/1457 | chr1 | 146972960 | |||
chr1:146974762 | C | A | 23 | a0001 a0002 a0003 others(20): Show |
100 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(97): Show |
missense_variant | MODERATE | c.1825C>A | p.Leu609Ile | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/37 | 3263/7435 | 1825/4374 | 609/1457 | chr1 | 146974762 | |||
chr1:146976941 | A | G | 2 | a0013 a0021 |
2 | HG00735.hp1 HG03704.hp2 |
missense_variant | MODERATE | c.2132A>G | p.Asp711Gly | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/37 | 3570/7435 | 2132/4374 | 711/1457 | chr1 | 146976941 | |||
chr1:146976997 | C | T | 1 | a0021 | 1 | HG03704.hp2 | missense_variant | MODERATE | c.2188C>T | p.Pro730Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/37 | 3626/7435 | 2188/4374 | 730/1457 | chr1 | 146976997 | |||
chr1:146977544 | T | A | 2 | a0011 a0016 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.2271T>A | p.His757Gln | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/37 | 3709/7435 | 2271/4374 | 757/1457 | chr1 | 146977544 | |||
chr1:146984823 | G | A | 2 | a0011 a0016 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.2677G>A | p.Glu893Lys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4115/7435 | 2677/4374 | 893/1457 | chr1 | 146984823 | |||
chr1:146984876 | T | G | 7 | a0003 a0006 a0012 others(4): Show |
27 | HG00280.hp1 HG00639.hp1 HG00673.hp2 others(24): Show |
missense_variant | MODERATE | c.2730T>G | p.Cys910Trp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4168/7435 | 2730/4374 | 910/1457 | chr1 | 146984876 | |||
chr1:146984882 | A | AACTCCTT others(1533): Show |
1 | a0006 | 3 | HG02896.hp2 HG06807.hp1 NA18522.hp2 |
frameshift_variant&stop_gained | HIGH | c.2766_2767insCCATGC others(1534): Show |
p.Ser923fs | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4205/7435 | 2767/4374 | 923/1457 | INFO_REALIGN_3_PRIME | chr1 | 146984882 | ||
chr1:146984899 | T | G | 1 | a0018 | 1 | HG02647.hp2 | missense_variant | MODERATE | c.2753T>G | p.Leu918Arg | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4191/7435 | 2753/4374 | 918/1457 | chr1 | 146984899 | |||
chr1:146984913 | T | C | 3 | a0006 a0027 a0028 |
5 | HG02896.hp2 HG06807.hp1 NA18522.hp2 others(2): Show |
missense_variant | MODERATE | c.2767T>C | p.Ser923Pro | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4205/7435 | 2767/4374 | 923/1457 | chr1 | 146984913 | |||
chr1:146984917 | G | C | 1 | a0014 | 1 | HG01433.hp2 | missense_variant | MODERATE | c.2771G>C | p.Cys924Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4209/7435 | 2771/4374 | 924/1457 | chr1 | 146984917 | |||
chr1:146984940 | T | TACGTATT others(2): Show |
4 | a0002 a0015 a0024 others(1): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
disruptive_inframe_insertion | MODERATE | c.2796_2804dupCGTATT others(3): Show |
p.Leu934_Glu935insAs others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4243/7435 | 2805/4374 | 935/1457 | INFO_REALIGN_3_PRIME | chr1 | 146984940 | ||
chr1:146984970 | G | C | 1 | a0002 | 2 | NA18939.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.2824G>C | p.Ala942Pro | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4262/7435 | 2824/4374 | 942/1457 | chr1 | 146984970 | |||
chr1:146985553 | ATCAGCCT others(4754): Show |
A | 2 | a0016 a0025 |
2 | HG02145.hp2 NA18947.hp2 |
exon_loss_variant | HIGH | c.2891+95_3623+94del | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/37 | INFO_REALIGN_3_PRIME | chr1 | 146985553 | ||||||
chr1:146986415 | T | G | 1 | a0009 | 1 | HG02602.hp2 | missense_variant | MODERATE | c.2955T>G | p.Cys985Trp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/37 | 4393/7435 | 2955/4374 | 985/1457 | chr1 | 146986415 | |||
chr1:146986469 | A | C | 4 | a0002 a0015 a0024 others(1): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
missense_variant | MODERATE | c.3009A>C | p.Arg1003Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/37 | 4447/7435 | 3009/4374 | 1003/1457 | chr1 | 146986469 | |||
chr1:146987962 | G | C | 1 | a0021 | 1 | HG03704.hp2 | missense_variant | MODERATE | c.3125G>C | p.Arg1042Thr | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/37 | 4563/7435 | 3125/4374 | 1042/1457 | chr1 | 146987962 | |||
chr1:146988091 | A | G | 3 | a0003 a0027 a0028 |
10 | HG00673.hp2 HG01071.hp2 HG01346.hp1 others(7): Show |
missense_variant | MODERATE | c.3254A>G | p.Glu1085Gly | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/37 | 4692/7435 | 3254/4374 | 1085/1457 | chr1 | 146988091 | |||
chr1:146988687 | CGACCAGC others(4751): Show |
C | 2 | a0001 a0007 |
2 | HG00544.hp2 HG03130.hp2 |
exon_loss_variant | HIGH | c.3399-74_4131-75del | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/37 | INFO_REALIGN_3_PRIME | chr1 | 146988687 | ||||||
chr1:146988909 | A | G | 1 | a0002 | 2 | NA18939.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.3358A>G | p.Arg1120Gly | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/37 | 4796/7435 | 3358/4374 | 1120/1457 | chr1 | 146988909 | |||
chr1:146988942 | T | A | 1 | a0003 | 1 | HG01099.hp2 | missense_variant | MODERATE | c.3391T>A | p.Cys1131Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/37 | 4829/7435 | 3391/4374 | 1131/1457 | chr1 | 146988942 | |||
chr1:146989666 | T | G | 1 | a0002 | 1 | HG02129.hp2 | missense_variant | MODERATE | c.3491T>G | p.Leu1164Arg | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/37 | 4929/7435 | 3491/4374 | 1164/1457 | chr1 | 146989666 | |||
chr1:146989674 | C | T | 1 | a0011 | 2 | HG02647.hp1 HG03453.hp2 |
missense_variant | MODERATE | c.3499C>T | p.Pro1167Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/37 | 4937/7435 | 3499/4374 | 1167/1457 | chr1 | 146989674 | |||
chr1:146991003 | C | CTGTCCTT others(6297): Show |
1 | a0002 | 3 | NA18949.hp1 NA19010.hp2 NA19070.hp2 |
frameshift_variant&stop_gained | HIGH | c.3740_3741insCAGTGC others(6298): Show |
p.Arg1247fs | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | INFO_REALIGN_3_PRIME | chr1 | 146991003 | ||
chr1:146991176 | T | G | 1 | a0009 | 2 | HG02145.hp1 HG02602.hp2 |
missense_variant | MODERATE | c.3687T>G | p.Cys1229Trp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5125/7435 | 3687/4374 | 1229/1457 | chr1 | 146991176 | |||
chr1:146991218 | C | CCAGCCCT others(6295): Show |
1 | a0026 | 1 | NA18952.hp1 | frameshift_variant&stop_gained | HIGH | c.3740_3741insCAGTGC others(6296): Show |
p.Arg1247fs | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | INFO_REALIGN_3_PRIME | chr1 | 146991218 | ||
chr1:146991226 | A | G | 1 | a0023 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.3737A>G | p.Tyr1246Cys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5175/7435 | 3737/4374 | 1246/1457 | chr1 | 146991226 | |||
chr1:146991230 | A | C | 1 | a0002 | 2 | HG02129.hp1 HG02293.hp1 |
missense_variant | MODERATE | c.3741A>C | p.Arg1247Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | chr1 | 146991230 | |||
chr1:146991230 | A | CAGTGCTG others(6297): Show |
1 | a0015 | 1 | HG01928.hp2 | frameshift_variant&stop_gained | HIGH | c.3740_3741insCAGTGC others(6298): Show |
p.Arg1247fs | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5179/7435 | 3741/4374 | 1247/1457 | chr1 | 146991230 | |||
chr1:146991273 | C | G | 1 | a0023 | 1 | NA18522.hp1 | missense_variant | MODERATE | c.3784C>G | p.Leu1262Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/37 | 5222/7435 | 3784/4374 | 1262/1457 | chr1 | 146991273 | |||
chr1:146992746 | G | A | 1 | a0026 | 1 | NA18952.hp1 | missense_variant | MODERATE | c.3883G>A | p.Glu1295Lys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/37 | 5321/7435 | 3883/4374 | 1295/1457 | chr1 | 146992746 | |||
chr1:146994348 | ATGGAAG | A | 2 | a0011 a0016 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
disruptive_inframe_deletion | MODERATE | c.4154_4159delTGGAAG | p.Val1385_Glu1386del | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 5592/7435 | 4154/4374 | 1385/1457 | INFO_REALIGN_3_PRIME | chr1 | 146994348 | ||
chr1:146994484 | C | G | 12 | a0001 a0002 a0005 others(9): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
missense_variant | MODERATE | c.4283C>G | p.Thr1428Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 5721/7435 | 4283/4374 | 1428/1457 | chr1 | 146994484 | |||
chr1:146994509 | C | G | 9 | a0002 a0005 a0011 others(6): Show |
39 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(36): Show |
missense_variant | MODERATE | c.4308C>G | p.Ser1436Arg | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 5746/7435 | 4308/4374 | 1436/1457 | chr1 | 146994509 | |||
chr1:146994534 | C | G | 1 | a0003 | 1 | HG04204.hp2 | missense_variant | MODERATE | c.4333C>G | p.Leu1445Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 5771/7435 | 4333/4374 | 1445/1457 | chr1 | 146994534 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:146960272 | T | C | 1 | a0005c0006 | 4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
synonymous_variant | LOW | c.129T>C | p.Phe43Phe | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/37 | 1567/7435 | 129/4374 | 43/1457 | chr1 | 146960272 | |||
chr1:146964899 | G | C | 2 | a0013c0015 a0021c0016 |
2 | HG00735.hp1 HG03704.hp2 |
synonymous_variant | LOW | c.573G>C | p.Val191Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/37 | 2011/7435 | 573/4374 | 191/1457 | chr1 | 146964899 | |||
chr1:146966567 | G | A | 32 | a0001c0001 a0001c0013 a0001c0014 others(29): Show |
93 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(90): Show |
synonymous_variant | LOW | c.882G>A | p.Lys294Lys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/37 | 2320/7435 | 882/4374 | 294/1457 | chr1 | 146966567 | |||
chr1:146969571 | G | A | 3 | a0018c0035 a0020c0041 a0022c0037 |
3 | HG02647.hp2 HG03139.hp2 HG06807.hp2 |
synonymous_variant | LOW | c.1281G>A | p.Gln427Gln | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/37 | 2719/7435 | 1281/4374 | 427/1457 | chr1 | 146969571 | |||
chr1:146969580 | C | A | 12 | a0003c0004 a0003c0021 a0003c0022 others(9): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
synonymous_variant | LOW | c.1290C>A | p.Val430Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/37 | 2728/7435 | 1290/4374 | 430/1457 | chr1 | 146969580 | |||
chr1:146970699 | G | A | 1 | a0002c0032 | 1 | HG01099.hp1 | synonymous_variant | LOW | c.1359G>A | p.Val453Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/37 | 2797/7435 | 1359/4374 | 453/1457 | chr1 | 146970699 | |||
chr1:146971273 | C | T | 1 | a0009c0009 | 1 | HG02602.hp2 | synonymous_variant | LOW | c.1470C>T | p.Asp490Asp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/37 | 2908/7435 | 1470/4374 | 490/1457 | chr1 | 146971273 | |||
chr1:146972854 | G | A | 8 | a0002c0002 a0002c0005 a0002c0010 others(5): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
synonymous_variant | LOW | c.1695G>A | p.Lys565Lys | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/37 | 3133/7435 | 1695/4374 | 565/1457 | chr1 | 146972854 | |||
chr1:146974779 | G | A | 3 | a0011c0043 a0011c0044 a0016c0042 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
synonymous_variant | LOW | c.1842G>A | p.Arg614Arg | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/37 | 3280/7435 | 1842/4374 | 614/1457 | chr1 | 146974779 | |||
chr1:146976981 | G | T | 3 | a0002c0005 a0002c0033 a0015c0034 |
8 | HG01081.hp2 HG01261.hp1 HG01358.hp1 others(5): Show |
synonymous_variant | LOW | c.2172G>T | p.Val724Val | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/37 | 3610/7435 | 2172/4374 | 724/1457 | chr1 | 146976981 | |||
chr1:146983021 | A | G | 4 | a0002c0032 a0011c0043 a0011c0044 others(1): Show |
4 | HG01099.hp1 HG02145.hp2 HG02647.hp1 others(1): Show |
synonymous_variant | LOW | c.2544A>G | p.Ser848Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/37 | 3982/7435 | 2544/4374 | 848/1457 | chr1 | 146983021 | |||
chr1:146983052 | T | C | 2 | a0017c0018 a0019c0017 |
2 | HG02258.hp1 HG03139.hp1 |
synonymous_variant | LOW | c.2575T>C | p.Leu859Leu | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/37 | 4013/7435 | 2575/4374 | 859/1457 | chr1 | 146983052 | |||
chr1:146984882 | A | G | 6 | a0004c0039 a0007c0008 a0014c0038 others(3): Show |
8 | HG01433.hp2 HG02965.hp1 HG03098.hp1 others(5): Show |
synonymous_variant | LOW | c.2736A>G | p.Ser912Ser | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/37 | 4174/7435 | 2736/4374 | 912/1457 | chr1 | 146984882 | |||
chr1:146987963 | G | A | 3 | a0001c0001 a0001c0013 a0001c0014 |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
synonymous_variant | LOW | c.3126G>A | p.Arg1042Arg | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/37 | 4564/7435 | 3126/4374 | 1042/1457 | chr1 | 146987963 | |||
chr1:146988020 | T | C | 1 | a0002c0002 | 1 | HG01358.hp2 | synonymous_variant | LOW | c.3183T>C | p.Tyr1061Tyr | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/37 | 4621/7435 | 3183/4374 | 1061/1457 | chr1 | 146988020 | |||
chr1:146992038 | A | G | 1 | a0001c0014 | 1 | HG00673.hp1 | synonymous_variant | LOW | c.3840A>G | p.Pro1280Pro | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/37 | 5278/7435 | 3840/4374 | 1280/1457 | chr1 | 146992038 | |||
chr1:146992721 | G | A | 3 | a0001c0001 a0001c0014 a0013c0015 |
27 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(24): Show |
synonymous_variant | LOW | c.3858G>A | p.Arg1286Arg | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/37 | 5296/7435 | 3858/4374 | 1286/1457 | chr1 | 146992721 | |||
chr1:146994497 | C | T | 1 | a0003c0021 | 1 | HG03704.hp1 | synonymous_variant | LOW | c.4296C>T | p.Asp1432Asp | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 5734/7435 | 4296/4374 | 1432/1457 | chr1 | 146994497 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:146938374 | G | C | 47 | a0001c0001t0002 a0001c0001t0011 a0001c0013t0002 others(44): Show |
101 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(98): Show |
5_prime_UTR_variant | MODIFIER | c.-1388G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21770 | chr1 | 146938374 | ||||||
chr1:146938374 | G | T | 1 | a0001c0001t0008 | 3 | HG02451.hp2 HG02895.hp1 HG02896.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-1388G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | chr1 | 146938374 | |||||||
chr1:146938447 | C | T | 1 | a0002c0002t0013 | 2 | HG02602.hp1 HG03239.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-1315C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | chr1 | 146938447 | |||||||
chr1:146938448 | G | A | 2 | a0005c0006t0006 a0005c0006t0014 |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-1314G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21696 | chr1 | 146938448 | ||||||
chr1:146938552 | G | GTTTTCTC others(81): Show |
4 | a0004c0039t0007 a0009c0009t0007 a0009c0009t0026 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-1139_-1052dupTCCG others(84): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21433 | INFO_REALIGN_3_PRIME | chr1 | 146938552 | |||||
chr1:146938552 | GTTTTCTC others(81): Show |
G | 1 | a0023c0036t0016 | 1 | NA18522.hp1 | 5_prime_UTR_variant | MODIFIER | c.-1139_-1052delTCCG others(84): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21434 | INFO_REALIGN_3_PRIME | chr1 | 146938552 | |||||
chr1:146938556 | T | TC | 2 | a0004c0003t0027 a0007c0008t0015 |
2 | HG01261.hp2 HG03098.hp1 |
5_prime_UTR_variant | MODIFIER | c.-1205dupC | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21586 | INFO_REALIGN_3_PRIME | chr1 | 146938556 | |||||
chr1:146938644 | T | A | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
5_prime_UTR_variant | MODIFIER | c.-1118T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21500 | chr1 | 146938644 | ||||||
chr1:146938648 | C | G | 2 | a0007c0008t0012 a0007c0008t0015 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
5_prime_UTR_variant | MODIFIER | c.-1114C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21496 | chr1 | 146938648 | ||||||
chr1:146938685 | C | T | 1 | a0001c0001t0011 | 2 | HG01255.hp2 HG01433.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-1077C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | chr1 | 146938685 | |||||||
chr1:146938869 | G | C | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
5_prime_UTR_variant | MODIFIER | c.-893G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21275 | chr1 | 146938869 | ||||||
chr1:146938873 | C | G | 12 | a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 others(9): Show |
31 | HG01071.hp2 HG01081.hp2 HG01099.hp1 others(28): Show |
5_prime_UTR_variant | MODIFIER | c.-889C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21271 | chr1 | 146938873 | ||||||
chr1:146938898 | A | T | 1 | a0021c0016t0022 | 1 | HG03704.hp2 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-864A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | chr1 | 146938898 | |||||||
chr1:146938903 | C | T | 13 | a0003c0004t0001 a0003c0004t0025 a0003c0021t0001 others(10): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
5_prime_UTR_variant | MODIFIER | c.-859C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21241 | chr1 | 146938903 | ||||||
chr1:146938967 | A | G | 2 | a0013c0015t0021 a0021c0016t0022 |
2 | HG00735.hp1 HG03704.hp2 |
5_prime_UTR_variant | MODIFIER | c.-795A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21177 | chr1 | 146938967 | ||||||
chr1:146938990 | C | T | 2 | a0005c0006t0006 a0005c0006t0014 |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-772C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/37 | 21154 | chr1 | 146938990 | ||||||
chr1:146943469 | C | T | 3 | a0018c0035t0010 a0020c0041t0020 a0022c0037t0010 |
3 | HG02647.hp2 HG03139.hp2 HG06807.hp2 |
5_prime_UTR_variant | MODIFIER | c.-571C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/37 | 16675 | chr1 | 146943469 | ||||||
chr1:146943472 | C | T | 17 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(14): Show |
46 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(43): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-568C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/37 | chr1 | 146943472 | |||||||
chr1:146949368 | A | G | 1 | a0019c0017t0019 | 1 | HG03139.hp1 | 5_prime_UTR_variant | MODIFIER | c.-380A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/37 | 10776 | chr1 | 146949368 | ||||||
chr1:146951414 | T | C | 1 | a0024c0019t0023 | 1 | NA18906.hp2 | 5_prime_UTR_variant | MODIFIER | c.-259T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/37 | 8730 | chr1 | 146951414 | ||||||
chr1:146951456 | C | T | 1 | a0004c0003t0028 | 1 | HG01109.hp1 | 5_prime_UTR_variant | MODIFIER | c.-217C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/37 | 8688 | chr1 | 146951456 | ||||||
chr1:146959973 | A | C | 1 | a0020c0041t0020 | 1 | HG03139.hp2 | 5_prime_UTR_variant | MODIFIER | c.-69A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 6/37 | 171 | chr1 | 146959973 | ||||||
chr1:146960137 | C | T | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-7C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/37 | chr1 | 146960137 | |||||||
chr1:146994583 | T | G | 7 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*8T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 8 | chr1 | 146994583 | ||||||
chr1:146994600 | T | G | 48 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(45): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
3_prime_UTR_variant | MODIFIER | c.*25T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 25 | chr1 | 146994600 | ||||||
chr1:146994626 | G | T | 1 | a0024c0019t0023 | 1 | NA18906.hp2 | 3_prime_UTR_variant | MODIFIER | c.*51G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 51 | chr1 | 146994626 | ||||||
chr1:146994689 | G | A | 1 | a0013c0015t0021 | 1 | HG00735.hp1 | 3_prime_UTR_variant | MODIFIER | c.*114G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 114 | chr1 | 146994689 | ||||||
chr1:146994725 | TG | T | 1 | a0002c0002t0013 | 2 | HG02602.hp1 HG03239.hp2 |
3_prime_UTR_variant | MODIFIER | c.*152delG | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 152 | INFO_REALIGN_3_PRIME | chr1 | 146994725 | |||||
chr1:146994740 | A | C | 11 | a0002c0002t0003 a0002c0002t0013 a0002c0002t0024 others(8): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
3_prime_UTR_variant | MODIFIER | c.*165A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 165 | chr1 | 146994740 | ||||||
chr1:146994752 | A | G | 1 | a0011c0044t0017 | 1 | HG02647.hp1 | 3_prime_UTR_variant | MODIFIER | c.*177A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 177 | chr1 | 146994752 | ||||||
chr1:146994776 | G | A | 4 | a0004c0039t0007 a0009c0009t0007 a0009c0009t0026 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*201G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 201 | chr1 | 146994776 | ||||||
chr1:146994814 | C | T | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*239C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 239 | chr1 | 146994814 | ||||||
chr1:146994948 | G | A | 7 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*373G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 373 | chr1 | 146994948 | ||||||
chr1:146994959 | G | C | 2 | a0007c0008t0012 a0007c0008t0015 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
3_prime_UTR_variant | MODIFIER | c.*384G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 384 | chr1 | 146994959 | ||||||
chr1:146994982 | A | C | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*407A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 407 | chr1 | 146994982 | ||||||
chr1:146995036 | G | A | 2 | a0018c0035t0010 a0022c0037t0010 |
2 | HG02647.hp2 HG06807.hp2 |
3_prime_UTR_variant | MODIFIER | c.*461G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 461 | chr1 | 146995036 | ||||||
chr1:146995095 | A | G | 48 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(45): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
3_prime_UTR_variant | MODIFIER | c.*520A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 520 | chr1 | 146995095 | ||||||
chr1:146995113 | G | T | 1 | a0002c0002t0024 | 1 | HG01943.hp1 | 3_prime_UTR_variant | MODIFIER | c.*538G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 538 | chr1 | 146995113 | ||||||
chr1:146995182 | A | C | 7 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*607A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 607 | chr1 | 146995182 | ||||||
chr1:146995264 | T | A | 1 | a0009c0009t0026 | 1 | HG02145.hp1 | 3_prime_UTR_variant | MODIFIER | c.*689T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 689 | chr1 | 146995264 | ||||||
chr1:146995283 | G | A | 7 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*708G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 708 | chr1 | 146995283 | ||||||
chr1:146995321 | C | T | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*746C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 746 | chr1 | 146995321 | ||||||
chr1:146995463 | G | C | 7 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*888G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 888 | chr1 | 146995463 | ||||||
chr1:146995470 | A | G | 4 | a0005c0006t0006 a0005c0006t0014 a0017c0018t0018 others(1): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*895A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 895 | chr1 | 146995470 | ||||||
chr1:146995475 | AAAGAT | A | 7 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(4): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
3_prime_UTR_variant | MODIFIER | c.*903_*907delGATAA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 903 | INFO_REALIGN_3_PRIME | chr1 | 146995475 | |||||
chr1:146995483 | TG | T | 13 | a0003c0004t0001 a0003c0004t0025 a0003c0021t0001 others(10): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*909delG | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 909 | chr1 | 146995483 | ||||||
chr1:146995527 | C | T | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*952C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 952 | chr1 | 146995527 | ||||||
chr1:146995545 | A | G | 1 | a0005c0006t0014 | 1 | HG03579.hp2 | 3_prime_UTR_variant | MODIFIER | c.*970A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 970 | chr1 | 146995545 | ||||||
chr1:146995657 | T | G | 4 | a0005c0006t0006 a0005c0006t0014 a0017c0018t0018 others(1): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1082T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 1082 | chr1 | 146995657 | ||||||
chr1:146995664 | T | C | 4 | a0005c0006t0006 a0005c0006t0014 a0017c0018t0018 others(1): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1089T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 1089 | chr1 | 146995664 | ||||||
chr1:146995870 | C | G | 4 | a0005c0006t0006 a0005c0006t0014 a0017c0018t0018 others(1): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1295C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 1295 | chr1 | 146995870 | ||||||
chr1:146995935 | A | T | 2 | a0013c0015t0021 a0021c0016t0022 |
2 | HG00735.hp1 HG03704.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1360A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 1360 | chr1 | 146995935 | ||||||
chr1:146995947 | G | A | 3 | a0011c0043t0009 a0011c0044t0017 a0016c0042t0009 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1372G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 1372 | chr1 | 146995947 | ||||||
chr1:146996172 | T | C | 23 | a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 others(20): Show |
66 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(63): Show |
3_prime_UTR_variant | MODIFIER | c.*1597T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 37/37 | 1597 | chr1 | 146996172 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:146939058 | C | G | 4 | a0009c0009t0026g0117 a0011c0043t0009g0120 a0011c0044t0017g0119 others(1): Show |
4 | HG02145.hp1 HG02145.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.-750+46C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939058 | |||||||
chr1:146939100 | CGCCGGGC others(3): Show |
C | 1 | a0003c0004t0001g0116 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.-750+96_-750+105de others(11): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146939100 | ||||||
chr1:146939109 | C | G | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-750+97C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939109 | |||||||
chr1:146939120 | C | T | 1 | a0001c0001t0008g0115 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.-750+108C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939120 | |||||||
chr1:146939148 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-750+136C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939148 | |||||||
chr1:146939181 | A | G | 6 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 others(3): Show |
6 | HG02145.hp2 HG02647.hp1 HG02965.hp1 others(3): Show |
intron_variant | MODIFIER | c.-750+169A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939181 | |||||||
chr1:146939182 | C | G | 1 | a0005c0006t0006g0114 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.-750+170C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939182 | |||||||
chr1:146939230 | C | T | 34 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(31): Show |
35 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(32): Show |
intron_variant | MODIFIER | c.-750+218C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939230 | |||||||
chr1:146939244 | G | T | 1 | a0001c0001t0002g0105 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.-750+232G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939244 | |||||||
chr1:146939361 | G | T | 1 | a0003c0004t0001g0079 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.-750+349G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939361 | |||||||
chr1:146939511 | G | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-750+499G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939511 | |||||||
chr1:146939553 | G | A | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-750+541G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939553 | |||||||
chr1:146939681 | A | G | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-750+669A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939681 | |||||||
chr1:146939698 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-750+686T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939698 | |||||||
chr1:146939727 | C | T | 1 | a0002c0002t0003g0032 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.-750+715C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939727 | |||||||
chr1:146939893 | G | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-750+881G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146939893 | |||||||
chr1:146939983 | TA | T | 88 | a0001c0001t0008g0104 a0002c0002t0003g0010 a0002c0002t0003g0011 others(85): Show |
89 | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(86): Show |
intron_variant | MODIFIER | c.-750+985delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146939983 | ||||||
chr1:146940555 | CA | C | 93 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 others(90): Show |
94 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.-750+1559delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146940555 | ||||||
chr1:146940668 | T | C | 3 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0014g0109 |
3 | HG02922.hp2 HG03130.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-750+1656T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146940668 | |||||||
chr1:146940903 | C | T | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.-750+1891C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146940903 | |||||||
chr1:146940904 | A | G | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-750+1892A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146940904 | |||||||
chr1:146940974 | T | C | 1 | a0002c0032t0003g0004 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.-750+1962T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146940974 | |||||||
chr1:146941225 | C | T | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-749-2066C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146941225 | |||||||
chr1:146941237 | A | G | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-749-2054A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146941237 | |||||||
chr1:146941420 | A | G | 13 | a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0094 others(10): Show |
14 | HG00609.hp1 HG00673.hp1 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.-749-1871A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146941420 | |||||||
chr1:146941537 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-749-1754C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146941537 | |||||||
chr1:146941756 | A | T | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.-749-1535A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146941756 | |||||||
chr1:146941758 | C | CA | 9 | a0001c0001t0008g0104 a0005c0006t0006g0114 a0007c0008t0012g0107 others(6): Show |
9 | HG02145.hp1 HG02258.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-749-1513dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146941758 | ||||||
chr1:146941758 | C | CAA | 26 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-749-1514_-749-151 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146941758 | ||||||
chr1:146941758 | CA | C | 9 | a0002c0002t0003g0003 a0002c0002t0003g0024 a0002c0002t0003g0025 others(6): Show |
9 | HG01109.hp2 HG01358.hp2 HG01978.hp1 others(6): Show |
intron_variant | MODIFIER | c.-749-1513delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146941758 | ||||||
chr1:146942003 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-749-1288G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942003 | |||||||
chr1:146942152 | C | G | 1 | a0003c0004t0025g0055 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.-749-1139C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942152 | |||||||
chr1:146942164 | T | A | 1 | a0003c0027t0001g0034 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.-749-1127T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942164 | |||||||
chr1:146942342 | T | C | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.-749-949T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942342 | |||||||
chr1:146942488 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-749-803C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942488 | |||||||
chr1:146942532 | A | C | 6 | a0003c0004t0001g0050 a0003c0004t0001g0051 a0003c0004t0001g0052 others(3): Show |
6 | HG00639.hp1 HG01099.hp2 HG01192.hp2 others(3): Show |
intron_variant | MODIFIER | c.-749-759A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942532 | |||||||
chr1:146942578 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-749-713C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942578 | |||||||
chr1:146942761 | ACAGATAG others(2): Show |
A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-749-517_-749-509d others(11): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146942761 | ||||||
chr1:146942806 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-749-485T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942806 | |||||||
chr1:146942813 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-749-478G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942813 | |||||||
chr1:146942823 | T | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-749-468T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942823 | |||||||
chr1:146942891 | A | G | 4 | a0003c0022t0001g0048 a0009c0009t0026g0117 a0018c0035t0010g0074 others(1): Show |
4 | HG02145.hp1 HG02647.hp2 HG04204.hp2 others(1): Show |
intron_variant | MODIFIER | c.-749-400A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942891 | |||||||
chr1:146942933 | A | AT | 65 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(62): Show |
66 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(63): Show |
intron_variant | MODIFIER | c.-749-352dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr1 | 146942933 | ||||||
chr1:146942958 | A | G | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-749-333A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146942958 | |||||||
chr1:146943048 | C | T | 3 | a0001c0001t0008g0091 a0001c0001t0008g0104 a0001c0001t0008g0115 |
3 | HG02451.hp2 HG02895.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.-749-243C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 1/36 | chr1 | 146943048 | |||||||
chr1:146943666 | G | A | 1 | a0002c0005t0005g0005 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-478+104G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146943666 | |||||||
chr1:146943673 | G | C | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.-478+111G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146943673 | |||||||
chr1:146943684 | C | G | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-478+122C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146943684 | |||||||
chr1:146943710 | T | C | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-478+148T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146943710 | |||||||
chr1:146943762 | T | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-478+200T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146943762 | |||||||
chr1:146943764 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-478+202G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146943764 | |||||||
chr1:146944039 | G | A | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.-478+477G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944039 | |||||||
chr1:146944111 | C | T | 1 | a0002c0031t0003g0031 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.-478+549C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944111 | |||||||
chr1:146944158 | G | A | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.-478+596G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944158 | |||||||
chr1:146944199 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-478+637C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944199 | |||||||
chr1:146944299 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-478+737G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944299 | |||||||
chr1:146944368 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-478+806G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944368 | |||||||
chr1:146944373 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-478+811C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944373 | |||||||
chr1:146944374 | A | G | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-478+812A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944374 | |||||||
chr1:146944375 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-478+813T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944375 | |||||||
chr1:146944479 | C | T | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.-478+917C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944479 | |||||||
chr1:146944611 | C | T | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-478+1049C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944611 | |||||||
chr1:146944698 | CTAATA | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-478+1137_-478+114 others(9): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944698 | |||||||
chr1:146944798 | T | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-478+1236T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944798 | |||||||
chr1:146944854 | C | CTTT | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-478+1292_-478+129 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944854 | |||||||
chr1:146944858 | C | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-478+1296C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944858 | |||||||
chr1:146944899 | T | C | 1 | a0006c0007t0001g0035 | 1 | HG02896.hp2 | intron_variant | MODIFIER | c.-478+1337T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944899 | |||||||
chr1:146944909 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-478+1347T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944909 | |||||||
chr1:146944910 | TCCTCCCT others(9): Show |
T | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-478+1364_-478+137 others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146944910 | ||||||
chr1:146944958 | CCCTCCCT others(25): Show |
C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-478+1404_-478+143 others(36): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146944958 | ||||||
chr1:146944965 | TTCCTCCC others(50): Show |
T | 3 | a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0101 |
3 | NA18947.hp1 NA19010.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.-478+1404_-478+146 others(61): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146944965 | |||||||
chr1:146944970 | CCCTCCCT others(33): Show |
C | 25 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(22): Show |
26 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(23): Show |
intron_variant | MODIFIER | c.-478+1420_-478+145 others(44): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146944970 | ||||||
chr1:146944974 | CCCTCCCT others(9): Show |
C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-478+1420_-478+143 others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146944974 | ||||||
chr1:146944982 | GCCTTCCT others(13): Show |
G | 35 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(32): Show |
35 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(32): Show |
intron_variant | MODIFIER | c.-478+1464_-478+148 others(24): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146944982 | ||||||
chr1:146944990 | TCCTCCCT others(17): Show |
T | 2 | a0018c0035t0010g0074 a0022c0037t0010g0073 |
2 | HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.-478+1440_-478+146 others(28): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146944990 | ||||||
chr1:146945002 | C | G | 9 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(6): Show |
9 | HG02145.hp2 HG02258.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.-478+1440C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945002 | |||||||
chr1:146945010 | TCCTC | T | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-478+1460_-478+146 others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146945010 | ||||||
chr1:146945022 | C | T | 64 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(61): Show |
65 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.-478+1460C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945022 | |||||||
chr1:146945027 | CCTT | C | 3 | a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0101 |
3 | NA18947.hp1 NA19010.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.-478+1467_-478+146 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146945027 | ||||||
chr1:146945348 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-477-1207G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945348 | |||||||
chr1:146945386 | G | A | 1 | a0002c0005t0005g0005 | 1 | HG02056.hp2 | intron_variant | MODIFIER | c.-477-1169G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945386 | |||||||
chr1:146945476 | A | G | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-477-1079A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945476 | |||||||
chr1:146945477 | C | T | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-477-1078C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945477 | |||||||
chr1:146945598 | A | T | 92 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(89): Show |
93 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.-477-957A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945598 | |||||||
chr1:146945666 | G | A | 1 | a0009c0009t0026g0117 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.-477-889G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945666 | |||||||
chr1:146945821 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-477-734G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945821 | |||||||
chr1:146945869 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-477-686C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945869 | |||||||
chr1:146945950 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-477-605C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146945950 | |||||||
chr1:146946082 | C | G | 1 | a0003c0021t0001g0047 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.-477-473C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146946082 | |||||||
chr1:146946134 | A | C | 4 | a0003c0021t0001g0047 a0011c0043t0009g0120 a0011c0044t0017g0119 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-477-421A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146946134 | |||||||
chr1:146946187 | TG | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-477-366delG | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946187 | ||||||
chr1:146946212 | C | T | 1 | a0004c0003t0028g0071 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.-477-343C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146946212 | |||||||
chr1:146946397 | C | T | 7 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(4): Show |
7 | HG02145.hp2 HG02647.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.-477-158C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | chr1 | 146946397 | |||||||
chr1:146946512 | C | CT | 25 | a0003c0004t0001g0033 a0003c0004t0001g0041 a0003c0004t0001g0042 others(22): Show |
25 | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(22): Show |
intron_variant | MODIFIER | c.-477-17dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946512 | CT | C | 16 | a0002c0002t0003g0030 a0002c0005t0005g0017 a0002c0005t0005g0018 others(13): Show |
16 | HG00735.hp1 HG01081.hp2 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.-477-17delT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946512 | CTT | C | 10 | a0002c0002t0003g0014 a0002c0002t0003g0015 a0002c0002t0003g0032 others(7): Show |
10 | HG01943.hp1 HG01978.hp2 HG01981.hp2 others(7): Show |
intron_variant | MODIFIER | c.-477-18_-477-17del others(2): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946512 | CTTT | C | 18 | a0001c0001t0002g0098 a0002c0002t0003g0003 a0002c0002t0003g0010 others(15): Show |
18 | HG01099.hp1 HG01109.hp2 HG01978.hp1 others(15): Show |
intron_variant | MODIFIER | c.-477-19_-477-17del others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946512 | CTTTT | C | 30 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(27): Show |
31 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(28): Show |
intron_variant | MODIFIER | c.-477-20_-477-17del others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946512 | CTTTTTTT others(4): Show |
C | 2 | a0027c0029t0001g0038 a0028c0028t0001g0037 |
2 | NA18968.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.-477-27_-477-17del others(11): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946512 | CTTTTTTT others(6): Show |
C | 1 | a0003c0004t0001g0036 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.-477-29_-477-17del others(13): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr1 | 146946512 | ||||||
chr1:146946695 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-425+88G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146946695 | |||||||
chr1:146946819 | A | G | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+212A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146946819 | |||||||
chr1:146946885 | T | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+278T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146946885 | |||||||
chr1:146946962 | G | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+355G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146946962 | |||||||
chr1:146947009 | C | T | 1 | a0021c0016t0022g0102 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-425+402C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947009 | |||||||
chr1:146947052 | C | G | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+445C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947052 | |||||||
chr1:146947076 | A | G | 23 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(20): Show |
24 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.-425+469A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947076 | |||||||
chr1:146947259 | T | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+652T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947259 | |||||||
chr1:146947315 | C | T | 2 | a0008c0011t0004g0065 a0008c0011t0004g0070 |
2 | HG00280.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.-425+708C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947315 | |||||||
chr1:146947450 | G | A | 1 | a0002c0002t0003g0014 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.-425+843G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947450 | |||||||
chr1:146947536 | C | T | 1 | a0001c0001t0002g0090 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.-425+929C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947536 | |||||||
chr1:146947610 | C | T | 1 | a0004c0039t0007g0076 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.-425+1003C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947610 | |||||||
chr1:146947612 | C | T | 93 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(90): Show |
94 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(91): Show |
intron_variant | MODIFIER | c.-425+1005C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947612 | |||||||
chr1:146947634 | C | T | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-425+1027C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947634 | |||||||
chr1:146947647 | T | G | 2 | a0006c0007t0001g0035 a0006c0007t0001g0039 |
2 | HG02896.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.-425+1040T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947647 | |||||||
chr1:146947699 | C | T | 35 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(32): Show |
35 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(32): Show |
intron_variant | MODIFIER | c.-425+1092C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947699 | |||||||
chr1:146947714 | C | T | 38 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(35): Show |
39 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(36): Show |
intron_variant | MODIFIER | c.-425+1107C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947714 | |||||||
chr1:146947753 | G | A | 64 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(61): Show |
65 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.-425+1146G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947753 | |||||||
chr1:146947784 | G | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+1177G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947784 | |||||||
chr1:146947817 | T | C | 2 | a0003c0004t0001g0079 a0018c0035t0010g0074 |
2 | HG02647.hp2 HG02698.hp1 |
intron_variant | MODIFIER | c.-425+1210T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947817 | |||||||
chr1:146947939 | G | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-425+1332G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146947939 | |||||||
chr1:146948019 | C | T | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-1305C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948019 | |||||||
chr1:146948085 | A | C | 1 | a0002c0002t0003g0013 | 1 | NA18949.hp1 | intron_variant | MODIFIER | c.-424-1239A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948085 | |||||||
chr1:146948128 | G | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-1196G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948128 | |||||||
chr1:146948162 | T | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-1162T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948162 | |||||||
chr1:146948253 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-424-1071C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948253 | |||||||
chr1:146948258 | G | GC | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.-424-1065dupC | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr1 | 146948258 | ||||||
chr1:146948298 | C | T | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-1026C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948298 | |||||||
chr1:146948423 | G | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-424-901G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948423 | |||||||
chr1:146948667 | G | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-657G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948667 | |||||||
chr1:146948695 | G | A | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-424-629G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948695 | |||||||
chr1:146948712 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-424-612C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948712 | |||||||
chr1:146948803 | G | A | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG02647.hp2 others(1): Show |
intron_variant | MODIFIER | c.-424-521G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948803 | |||||||
chr1:146948830 | T | C | 3 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0004c0003t0004g0058 |
4 | HG01071.hp1 HG01255.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.-424-494T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948830 | |||||||
chr1:146948888 | C | T | 31 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(28): Show |
31 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.-424-436C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948888 | |||||||
chr1:146948897 | A | T | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-424-427A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146948897 | |||||||
chr1:146949012 | A | T | 1 | a0001c0013t0002g0089 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.-424-312A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949012 | |||||||
chr1:146949093 | G | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-231G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949093 | |||||||
chr1:146949130 | A | C | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-424-194A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949130 | |||||||
chr1:146949133 | GCCGGCAT others(7): Show |
G | 2 | a0018c0035t0010g0074 a0020c0041t0020g0078 |
2 | HG02647.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.-424-173_-424-160d others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | INFO_REALIGN_3_PRIME | chr1 | 146949133 | ||||||
chr1:146949138 | C | G | 10 | a0003c0004t0001g0050 a0003c0004t0001g0051 a0003c0004t0001g0052 others(7): Show |
10 | HG00639.hp1 HG01099.hp2 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.-424-186C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949138 | |||||||
chr1:146949149 | C | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-175C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949149 | |||||||
chr1:146949170 | G | T | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-154G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949170 | |||||||
chr1:146949171 | T | G | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-153T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949171 | |||||||
chr1:146949172 | T | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-152T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949172 | |||||||
chr1:146949173 | C | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-151C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949173 | |||||||
chr1:146949174 | A | C | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-150A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949174 | |||||||
chr1:146949181 | G | A | 1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.-424-143G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 3/36 | chr1 | 146949181 | |||||||
chr1:146949620 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-326+198C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949620 | |||||||
chr1:146949676 | A | G | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.-326+254A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949676 | |||||||
chr1:146949760 | A | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-326+338A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949760 | |||||||
chr1:146949789 | A | G | 2 | a0015c0034t0005g0022 a0027c0029t0001g0038 |
2 | HG01928.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.-326+367A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949789 | |||||||
chr1:146949798 | C | G | 1 | a0015c0034t0005g0022 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.-326+376C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949798 | |||||||
chr1:146949857 | A | G | 1 | a0011c0043t0009g0120 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.-326+435A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949857 | |||||||
chr1:146949858 | C | A | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-326+436C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949858 | |||||||
chr1:146949900 | C | G | 1 | a0001c0001t0002g0088 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.-326+478C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949900 | |||||||
chr1:146949942 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-326+520G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949942 | |||||||
chr1:146949944 | G | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+522G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949944 | |||||||
chr1:146949974 | C | T | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.-326+552C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146949974 | |||||||
chr1:146950011 | A | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+589A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950011 | |||||||
chr1:146950018 | C | T | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+596C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950018 | |||||||
chr1:146950019 | A | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+597A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950019 | |||||||
chr1:146950046 | G | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+624G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950046 | |||||||
chr1:146950116 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-326+694G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950116 | |||||||
chr1:146950122 | G | T | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+700G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950122 | |||||||
chr1:146950170 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-326+748C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950170 | |||||||
chr1:146950196 | G | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+774G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950196 | |||||||
chr1:146950226 | A | G | 1 | a0012c0040t0004g0069 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-326+804A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950226 | |||||||
chr1:146950230 | G | C | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.-326+808G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950230 | |||||||
chr1:146950239 | T | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-326+817T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950239 | |||||||
chr1:146950276 | A | G | 2 | a0002c0002t0003g0011 a0002c0002t0003g0012 |
2 | NA19010.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.-326+854A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950276 | |||||||
chr1:146950339 | C | A | 1 | a0016c0042t0009g0118 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.-326+917C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950339 | |||||||
chr1:146950393 | A | G | 2 | a0009c0009t0007g0077 a0027c0029t0001g0038 |
2 | HG02602.hp2 NA18968.hp2 |
intron_variant | MODIFIER | c.-325-955A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950393 | |||||||
chr1:146950424 | C | A | 3 | a0004c0039t0007g0076 a0009c0009t0026g0117 a0014c0038t0007g0075 |
3 | HG01433.hp2 HG02145.hp1 HG03486.hp1 |
intron_variant | MODIFIER | c.-325-924C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950424 | |||||||
chr1:146950499 | A | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-849A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950499 | |||||||
chr1:146950516 | T | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-832T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950516 | |||||||
chr1:146950622 | C | G | 1 | a0024c0019t0023g0029 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.-325-726C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950622 | |||||||
chr1:146950637 | C | T | 1 | a0003c0004t0001g0054 | 1 | HG01346.hp1 | intron_variant | MODIFIER | c.-325-711C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950637 | |||||||
chr1:146950720 | G | A | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.-325-628G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950720 | |||||||
chr1:146950746 | GATATTTG others(5): Show |
G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-584_-325-573d others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr1 | 146950746 | ||||||
chr1:146950814 | T | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-325-534T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950814 | |||||||
chr1:146950817 | A | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-325-531A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950817 | |||||||
chr1:146950985 | A | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-363A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146950985 | |||||||
chr1:146951042 | A | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-306A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146951042 | |||||||
chr1:146951052 | T | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-296T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146951052 | |||||||
chr1:146951184 | T | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-325-164T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146951184 | |||||||
chr1:146951191 | A | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-157A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146951191 | |||||||
chr1:146951251 | AGGGCATG others(9): Show |
A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-325-93_-325-78del others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr1 | 146951251 | ||||||
chr1:146951313 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-325-35G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 4/36 | chr1 | 146951313 | |||||||
chr1:146951711 | T | C | 5 | a0004c0003t0004g0059 a0011c0043t0009g0120 a0011c0044t0017g0119 others(2): Show |
5 | HG02145.hp2 HG02451.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.-184+222T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146951711 | |||||||
chr1:146951953 | T | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+464T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146951953 | |||||||
chr1:146952174 | A | G | 3 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0004c0003t0004g0058 |
4 | HG01071.hp1 HG01255.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.-184+685A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952174 | |||||||
chr1:146952200 | G | T | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-184+711G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952200 | |||||||
chr1:146952245 | C | T | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+756C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952245 | |||||||
chr1:146952282 | T | C | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.-184+793T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952282 | |||||||
chr1:146952332 | C | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+843C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952332 | |||||||
chr1:146952399 | A | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+910A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952399 | |||||||
chr1:146952435 | G | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+946G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952435 | |||||||
chr1:146952483 | T | G | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-184+994T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952483 | |||||||
chr1:146952631 | G | T | 28 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(25): Show |
28 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.-184+1142G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952631 | |||||||
chr1:146952724 | A | T | 2 | a0018c0035t0010g0074 a0022c0037t0010g0073 |
2 | HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.-184+1235A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952724 | |||||||
chr1:146952749 | A | G | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.-184+1260A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952749 | |||||||
chr1:146952860 | G | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+1371G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952860 | |||||||
chr1:146952908 | C | T | 1 | a0001c0001t0002g0101 | 1 | NA18947.hp1 | intron_variant | MODIFIER | c.-184+1419C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146952908 | |||||||
chr1:146953030 | G | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+1541G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953030 | |||||||
chr1:146953034 | C | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+1545C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953034 | |||||||
chr1:146953052 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-184+1563G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953052 | |||||||
chr1:146953128 | A | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+1639A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953128 | |||||||
chr1:146953140 | TCTC | T | 68 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(65): Show |
69 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.-184+1652_-184+165 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953140 | |||||||
chr1:146953456 | G | A | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+1967G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953456 | |||||||
chr1:146953546 | T | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2057T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953546 | |||||||
chr1:146953552 | C | T | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2063C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953552 | |||||||
chr1:146953564 | A | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2075A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953564 | |||||||
chr1:146953565 | C | T | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2076C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953565 | |||||||
chr1:146953577 | C | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2088C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953577 | |||||||
chr1:146953579 | T | G | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2090T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953579 | |||||||
chr1:146953720 | A | G | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.-184+2231A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953720 | |||||||
chr1:146953791 | T | C | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+2302T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953791 | |||||||
chr1:146953929 | C | T | 1 | a0009c0009t0007g0077 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.-184+2440C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146953929 | |||||||
chr1:146954083 | ATGT | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-184+2598_-184+260 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954083 | ||||||
chr1:146954157 | C | T | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-184+2668C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954157 | |||||||
chr1:146954198 | C | T | 2 | a0004c0003t0004g0059 a0027c0029t0001g0038 |
2 | HG02451.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.-184+2709C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954198 | |||||||
chr1:146954389 | C | CA | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01099.hp2 others(22): Show |
intron_variant | MODIFIER | c.-184+2924dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAA | 4 | a0003c0004t0025g0055 a0003c0023t0001g0049 a0003c0025t0001g0040 others(1): Show |
4 | HG01071.hp2 HG02602.hp2 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.-184+2923_-184+292 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAA | 7 | a0002c0002t0003g0015 a0002c0002t0003g0026 a0002c0002t0003g0027 others(4): Show |
7 | HG01109.hp2 HG01981.hp2 HG02129.hp1 others(4): Show |
intron_variant | MODIFIER | c.-184+2922_-184+292 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAAA | 25 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(22): Show |
25 | HG01081.hp2 HG01099.hp1 HG01261.hp1 others(22): Show |
intron_variant | MODIFIER | c.-184+2921_-184+292 others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAAAA | 7 | a0002c0002t0013g0006 a0002c0005t0005g0017 a0002c0010t0003g0008 others(4): Show |
7 | HG00735.hp1 HG02148.hp2 HG02293.hp1 others(4): Show |
intron_variant | MODIFIER | c.-184+2920_-184+292 others(9): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAAAAAA others(2): Show |
4 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 others(1): Show |
4 | HG01943.hp2 HG02273.hp2 NA18950.hp2 others(1): Show |
intron_variant | MODIFIER | c.-184+2916_-184+292 others(13): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAAAAAA others(3): Show |
8 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 others(5): Show |
8 | HG00544.hp2 HG00609.hp2 HG00735.hp2 others(5): Show |
intron_variant | MODIFIER | c.-184+2915_-184+292 others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAAAAAA others(4): Show |
9 | a0001c0001t0002g0080 a0001c0001t0002g0092 a0001c0001t0002g0094 others(6): Show |
10 | HG00609.hp1 HG01255.hp2 HG01433.hp1 others(7): Show |
intron_variant | MODIFIER | c.-184+2914_-184+292 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | C | CAAAAAAA others(5): Show |
2 | a0001c0001t0002g0100 a0001c0014t0002g0093 |
2 | HG00673.hp1 NA19010.hp1 |
intron_variant | MODIFIER | c.-184+2913_-184+292 others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954389 | CAAAAAAA others(4): Show |
C | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-184+2914_-184+292 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954389 | ||||||
chr1:146954414 | G | A | 1 | a0002c0002t0003g0015 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-184+2925G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954414 | |||||||
chr1:146954415 | G | A | 1 | a0002c0002t0003g0015 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.-184+2926G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954415 | |||||||
chr1:146954604 | C | T | 2 | a0001c0001t0002g0092 a0027c0029t0001g0038 |
2 | NA18968.hp2 NA19056.hp2 |
intron_variant | MODIFIER | c.-184+3115C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954604 | |||||||
chr1:146954774 | G | A | 23 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(20): Show |
24 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.-184+3285G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954774 | |||||||
chr1:146954881 | C | CCA | 31 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(28): Show |
31 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(28): Show |
intron_variant | MODIFIER | c.-184+3407_-184+340 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954881 | ||||||
chr1:146954900 | C | CGT | 24 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0042 others(21): Show |
24 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.-184+3432_-184+343 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954900 | ||||||
chr1:146954900 | CGT | C | 6 | a0001c0001t0008g0115 a0011c0043t0009g0120 a0011c0044t0017g0119 others(3): Show |
6 | HG00735.hp1 HG02145.hp2 HG02647.hp1 others(3): Show |
intron_variant | MODIFIER | c.-184+3432_-184+343 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954900 | ||||||
chr1:146954900 | CGTGT | C | 36 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(33): Show |
36 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(33): Show |
intron_variant | MODIFIER | c.-184+3430_-184+343 others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954900 | ||||||
chr1:146954907 | G | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-184+3418G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954907 | |||||||
chr1:146954921 | G | A | 58 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(55): Show |
59 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(56): Show |
intron_variant | MODIFIER | c.-184+3432G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146954921 | |||||||
chr1:146954921 | G | GTA | 3 | a0001c0001t0002g0083 a0001c0001t0002g0084 a0004c0039t0007g0076 |
3 | HG00609.hp2 HG00735.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-184+3444_-184+344 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954921 | ||||||
chr1:146954969 | A | AATAT | 3 | a0004c0003t0004g0064 a0004c0003t0004g0068 a0010c0012t0004g0063 |
3 | HG02258.hp2 HG02965.hp2 NA18906.hp1 |
intron_variant | MODIFIER | c.-184+3522_-184+352 others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | A | AATATATA others(3): Show |
1 | a0010c0012t0004g0060 | 1 | HG03098.hp2 | intron_variant | MODIFIER | c.-184+3516_-184+352 others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AAT | A | 2 | a0004c0003t0004g0061 a0004c0003t0028g0071 |
2 | HG01109.hp1 HG01192.hp1 |
intron_variant | MODIFIER | c.-184+3524_-184+352 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AATATATA others(3): Show |
A | 4 | a0004c0039t0007g0076 a0007c0008t0012g0107 a0007c0008t0012g0108 others(1): Show |
4 | HG02965.hp1 HG03098.hp1 HG03130.hp2 others(1): Show |
intron_variant | MODIFIER | c.-184+3516_-184+352 others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AATATATA others(9): Show |
A | 6 | a0003c0024t0001g0053 a0003c0026t0001g0046 a0018c0035t0010g0074 others(3): Show |
6 | HG01099.hp2 HG02647.hp2 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-184+3510_-184+352 others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AATATATA others(11): Show |
A | 22 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(19): Show |
22 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.-184+3508_-184+352 others(22): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AATATATA others(15): Show |
A | 6 | a0001c0001t0002g0083 a0001c0001t0002g0092 a0001c0001t0002g0100 others(3): Show |
6 | HG00609.hp2 HG00735.hp1 HG02896.hp1 others(3): Show |
intron_variant | MODIFIER | c.-184+3504_-184+352 others(26): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AATATATA others(17): Show |
A | 31 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(28): Show |
32 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(29): Show |
intron_variant | MODIFIER | c.-184+3502_-184+352 others(28): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954969 | AATATATA others(19): Show |
A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-184+3500_-184+352 others(30): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954969 | ||||||
chr1:146954987 | TATATATA others(21): Show |
T | 1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.-184+3500_-184+352 others(32): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146954987 | ||||||
chr1:146955011 | T | C | 6 | a0003c0026t0001g0046 a0006c0007t0001g0035 a0006c0007t0001g0039 others(3): Show |
6 | HG02145.hp2 HG02647.hp1 HG02895.hp2 others(3): Show |
intron_variant | MODIFIER | c.-184+3522T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955011 | |||||||
chr1:146955011 | T | TAC | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.-184+3523_-184+352 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146955011 | ||||||
chr1:146955013 | T | C | 60 | a0001c0001t0002g0083 a0002c0002t0003g0003 a0002c0002t0003g0010 others(57): Show |
60 | HG00609.hp2 HG00639.hp1 HG00673.hp2 others(57): Show |
intron_variant | MODIFIER | c.-184+3524T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955013 | |||||||
chr1:146955074 | T | G | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.-184+3585T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955074 | |||||||
chr1:146955224 | A | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-184+3735A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955224 | |||||||
chr1:146955249 | G | T | 24 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(21): Show |
24 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.-184+3760G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955249 | |||||||
chr1:146955345 | A | G | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.-184+3856A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955345 | |||||||
chr1:146955391 | CTG | C | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-184+3906_-184+390 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146955391 | ||||||
chr1:146955419 | G | C | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-184+3930G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955419 | |||||||
chr1:146955456 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-184+3967C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955456 | |||||||
chr1:146955507 | TTC | T | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-184+4020_-184+402 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146955507 | ||||||
chr1:146955600 | A | G | 1 | a0013c0015t0021g0103 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-184+4111A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955600 | |||||||
chr1:146955723 | G | A | 5 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(2): Show |
5 | HG02145.hp2 HG02258.hp1 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.-183-4136G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955723 | |||||||
chr1:146955940 | T | C | 1 | a0001c0001t0002g0094 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.-183-3919T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955940 | |||||||
chr1:146955957 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-3902C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955957 | |||||||
chr1:146955980 | G | A | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-183-3879G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146955980 | |||||||
chr1:146955984 | C | CT | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-183-3864dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146955984 | ||||||
chr1:146956041 | G | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-3818G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956041 | |||||||
chr1:146956198 | C | A | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.-183-3661C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956198 | |||||||
chr1:146956311 | G | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-3548G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956311 | |||||||
chr1:146956451 | C | T | 1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.-183-3408C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956451 | |||||||
chr1:146956913 | G | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-183-2946G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956913 | |||||||
chr1:146956931 | T | C | 3 | a0018c0035t0010g0074 a0020c0041t0020g0078 a0022c0037t0010g0073 |
3 | HG02647.hp2 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.-183-2928T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956931 | |||||||
chr1:146956963 | T | C | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-183-2896T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956963 | |||||||
chr1:146956976 | ATTCAAAC others(2614): Show |
A | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.-183-2879_-183-259 others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146956976 | ||||||
chr1:146956998 | T | C | 3 | a0001c0001t0008g0091 a0001c0001t0008g0104 a0001c0001t0008g0115 |
3 | HG02451.hp2 HG02895.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.-183-2861T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146956998 | |||||||
chr1:146957296 | A | G | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-183-2563A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957296 | |||||||
chr1:146957678 | T | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183-2181T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957678 | |||||||
chr1:146957836 | A | AAC | 28 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-183-2022_-183-202 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146957836 | ||||||
chr1:146957836 | A | T | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183-2023A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957836 | |||||||
chr1:146957837 | ATAT | A | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183-2021_-183-201 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957837 | |||||||
chr1:146957838 | T | C | 33 | a0001c0001t0002g0080 a0001c0001t0002g0085 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.-183-2021T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957838 | |||||||
chr1:146957841 | A | AAT | 2 | a0002c0002t0003g0003 a0002c0002t0003g0010 |
2 | NA19002.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.-183-2004_-183-200 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146957841 | ||||||
chr1:146957841 | A | ATAAT | 29 | a0001c0001t0002g0080 a0001c0001t0002g0085 a0002c0002t0003g0011 others(26): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.-183-2018_-183-201 others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957841 | |||||||
chr1:146957841 | A | ATAATAT | 3 | a0002c0002t0003g0030 a0011c0043t0009g0120 a0011c0044t0017g0119 |
3 | HG01358.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-2018_-183-201 others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957841 | |||||||
chr1:146957841 | A | C | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183-2018A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957841 | |||||||
chr1:146957866 | T | C | 1 | a0002c0002t0003g0030 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.-183-1993T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957866 | |||||||
chr1:146957892 | C | CATATT | 17 | a0004c0039t0007g0076 a0005c0006t0006g0110 a0005c0006t0006g0111 others(14): Show |
17 | HG01433.hp2 HG02145.hp1 HG02258.hp1 others(14): Show |
intron_variant | MODIFIER | c.-183-1963_-183-196 others(9): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146957892 | ||||||
chr1:146957892 | C | CGTATT | 61 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(58): Show |
62 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(59): Show |
intron_variant | MODIFIER | c.-183-1967_-183-196 others(9): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957892 | |||||||
chr1:146957919 | G | A | 1 | a0021c0016t0022g0102 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.-183-1940G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957919 | |||||||
chr1:146957979 | ATG | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-1872_-183-187 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146957979 | ||||||
chr1:146957987 | G | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-183-1872G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957987 | |||||||
chr1:146957987 | G | GTA | 9 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(6): Show |
9 | HG02258.hp1 HG02922.hp2 HG02965.hp1 others(6): Show |
intron_variant | MODIFIER | c.-183-1859_-183-185 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146957987 | ||||||
chr1:146957997 | A | G | 5 | a0004c0003t0004g0059 a0004c0003t0004g0064 a0004c0003t0004g0068 others(2): Show |
5 | HG02258.hp2 HG02451.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183-1862A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146957997 | |||||||
chr1:146958048 | TAC | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-1809_-183-180 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146958048 | ||||||
chr1:146958050 | C | T | 41 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(38): Show |
42 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(39): Show |
intron_variant | MODIFIER | c.-183-1809C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958050 | |||||||
chr1:146958090 | A | ATAAT | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183-1769_-183-176 others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958090 | |||||||
chr1:146958106 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-1753T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958106 | |||||||
chr1:146958240 | G | A | 3 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0014g0109 |
3 | HG02922.hp2 HG03130.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.-183-1619G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958240 | |||||||
chr1:146958280 | T | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-183-1579T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958280 | |||||||
chr1:146958540 | TCTC | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-1316_-183-131 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146958540 | ||||||
chr1:146958637 | T | C | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.-183-1222T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958637 | |||||||
chr1:146958656 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-1203T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958656 | |||||||
chr1:146958717 | T | C | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-183-1142T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958717 | |||||||
chr1:146958856 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-1003A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958856 | |||||||
chr1:146958889 | T | C | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-183-970T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146958889 | |||||||
chr1:146959050 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-809G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959050 | |||||||
chr1:146959066 | A | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.-183-793A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959066 | |||||||
chr1:146959089 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-770T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959089 | |||||||
chr1:146959145 | C | CA | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.-183-712dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146959145 | ||||||
chr1:146959171 | T | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-688T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959171 | |||||||
chr1:146959234 | T | G | 71 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(68): Show |
72 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(69): Show |
intron_variant | MODIFIER | c.-183-625T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959234 | |||||||
chr1:146959270 | C | T | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.-183-589C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959270 | |||||||
chr1:146959318 | C | CA | 63 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 others(60): Show |
64 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(61): Show |
intron_variant | MODIFIER | c.-183-528dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146959318 | ||||||
chr1:146959325 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.-183-534A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959325 | |||||||
chr1:146959332 | T | A | 78 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(75): Show |
79 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(76): Show |
intron_variant | MODIFIER | c.-183-527T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959332 | |||||||
chr1:146959391 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.-183-468G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959391 | |||||||
chr1:146959487 | C | CA | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.-183-353dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146959487 | ||||||
chr1:146959487 | CA | C | 5 | a0001c0001t0002g0100 a0004c0039t0007g0076 a0011c0043t0009g0120 others(2): Show |
5 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(2): Show |
intron_variant | MODIFIER | c.-183-353delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146959487 | ||||||
chr1:146959487 | CAA | C | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.-183-354_-183-353d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146959487 | ||||||
chr1:146959628 | GAT | G | 7 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 others(4): Show |
7 | HG02647.hp2 HG02965.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.-183-229_-183-228d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr1 | 146959628 | ||||||
chr1:146959763 | G | C | 1 | a0013c0015t0021g0103 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.-183-96G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959763 | |||||||
chr1:146959766 | G | A | 1 | a0004c0003t0027g0066 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.-183-93G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 5/36 | chr1 | 146959766 | |||||||
chr1:146960360 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.175+42G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960360 | |||||||
chr1:146960445 | G | T | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.175+127G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960445 | |||||||
chr1:146960514 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.175+196G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960514 | |||||||
chr1:146960524 | G | A | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.175+206G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960524 | |||||||
chr1:146960552 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.175+234C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960552 | |||||||
chr1:146960586 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.175+268T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960586 | |||||||
chr1:146960604 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.175+286G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960604 | |||||||
chr1:146960657 | C | G | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.175+339C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960657 | |||||||
chr1:146960664 | G | C | 6 | a0001c0001t0002g0081 a0001c0001t0002g0085 a0001c0001t0002g0086 others(3): Show |
6 | HG00544.hp2 HG01928.hp1 HG01943.hp2 others(3): Show |
intron_variant | MODIFIER | c.175+346G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960664 | |||||||
chr1:146960836 | T | C | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.175+518T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960836 | |||||||
chr1:146960869 | C | T | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.175+551C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146960869 | |||||||
chr1:146961069 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.175+751C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961069 | |||||||
chr1:146961093 | C | T | 8 | a0002c0005t0005g0005 a0002c0005t0005g0017 a0002c0005t0005g0018 others(5): Show |
8 | HG01081.hp2 HG01261.hp1 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.175+775C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961093 | |||||||
chr1:146961325 | G | C | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.176-836G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961325 | |||||||
chr1:146961334 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.176-827G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961334 | |||||||
chr1:146961380 | T | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.176-781T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961380 | |||||||
chr1:146961440 | G | A | 2 | a0003c0004t0001g0050 a0003c0004t0001g0051 |
2 | HG00639.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.176-721G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961440 | |||||||
chr1:146961506 | A | ATGTTTCT others(25): Show |
4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.176-635_176-604dup others(32): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr1 | 146961506 | ||||||
chr1:146961592 | T | C | 1 | a0002c0005t0005g0018 | 1 | HG01981.hp1 | intron_variant | MODIFIER | c.176-569T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961592 | |||||||
chr1:146961607 | TATTTCCT others(3): Show |
T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.176-553_176-544del others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961607 | |||||||
chr1:146961628 | T | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.176-533T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961628 | |||||||
chr1:146961647 | A | G | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.176-514A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961647 | |||||||
chr1:146961687 | A | T | 3 | a0003c0004t0001g0052 a0003c0004t0001g0054 a0003c0023t0001g0049 |
3 | HG01346.hp1 HG02273.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.176-474A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961687 | |||||||
chr1:146961695 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.176-466A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961695 | |||||||
chr1:146961864 | G | A | 1 | a0001c0001t0002g0087 | 1 | HG00544.hp1 | intron_variant | MODIFIER | c.176-297G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961864 | |||||||
chr1:146961953 | A | G | 23 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(20): Show |
24 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.176-208A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961953 | |||||||
chr1:146961967 | C | T | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.176-194C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146961967 | |||||||
chr1:146962010 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.176-151C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146962010 | |||||||
chr1:146962102 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.176-59G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 7/36 | chr1 | 146962102 | |||||||
chr1:146962291 | G | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.278+28G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962291 | |||||||
chr1:146962293 | G | A | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.278+30G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962293 | |||||||
chr1:146962296 | T | C | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.278+33T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962296 | |||||||
chr1:146962366 | G | A | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.278+103G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962366 | |||||||
chr1:146962420 | GATA | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.278+165_278+167del others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | INFO_REALIGN_3_PRIME | chr1 | 146962420 | ||||||
chr1:146962540 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.278+277T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962540 | |||||||
chr1:146962555 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.278+292T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962555 | |||||||
chr1:146962575 | T | C | 1 | a0003c0027t0001g0034 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.278+312T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962575 | |||||||
chr1:146962576 | G | A | 1 | a0003c0027t0001g0034 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.278+313G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962576 | |||||||
chr1:146962622 | T | G | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.278+359T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962622 | |||||||
chr1:146962668 | A | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.278+405A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962668 | |||||||
chr1:146962684 | A | G | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.279-411A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962684 | |||||||
chr1:146962776 | T | C | 3 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 |
3 | HG01109.hp2 HG01978.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.279-319T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962776 | |||||||
chr1:146962826 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.279-269C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962826 | |||||||
chr1:146962884 | C | T | 1 | a0024c0019t0023g0029 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.279-211C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962884 | |||||||
chr1:146962959 | A | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.279-136A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 8/36 | chr1 | 146962959 | |||||||
chr1:146963322 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.493+13T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963322 | |||||||
chr1:146963375 | CT | C | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.493+69delT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr1 | 146963375 | ||||||
chr1:146963381 | T | C | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.493+72T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963381 | |||||||
chr1:146963382 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.493+73G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963382 | |||||||
chr1:146963432 | G | T | 2 | a0006c0007t0001g0035 a0006c0007t0001g0039 |
2 | HG02896.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.493+123G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963432 | |||||||
chr1:146963438 | A | T | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.493+129A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963438 | |||||||
chr1:146963453 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.493+144G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963453 | |||||||
chr1:146963467 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.493+158G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963467 | |||||||
chr1:146963543 | A | G | 1 | a0011c0043t0009g0120 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.493+234A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963543 | |||||||
chr1:146963546 | G | A | 2 | a0011c0044t0017g0119 a0016c0042t0009g0118 |
2 | HG02145.hp2 HG02647.hp1 |
intron_variant | MODIFIER | c.493+237G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963546 | |||||||
chr1:146963636 | G | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.493+327G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963636 | |||||||
chr1:146963642 | A | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.493+333A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963642 | |||||||
chr1:146963708 | C | T | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.493+399C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963708 | |||||||
chr1:146963737 | T | C | 94 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(91): Show |
95 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.493+428T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963737 | |||||||
chr1:146963742 | G | T | 2 | a0010c0012t0004g0060 a0010c0012t0004g0063 |
2 | HG02258.hp2 HG03098.hp2 |
intron_variant | MODIFIER | c.493+433G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963742 | |||||||
chr1:146963765 | A | G | 1 | a0001c0001t0002g0097 | 1 | NA18968.hp1 | intron_variant | MODIFIER | c.493+456A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963765 | |||||||
chr1:146963788 | T | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.493+479T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963788 | |||||||
chr1:146963843 | G | C | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.494-514G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963843 | |||||||
chr1:146963862 | G | A | 1 | a0003c0004t0001g0041 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.494-495G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963862 | |||||||
chr1:146963870 | C | G | 3 | a0017c0018t0018g0113 a0019c0017t0019g0112 a0023c0036t0016g0072 |
3 | HG02258.hp1 HG03139.hp1 NA18522.hp1 |
intron_variant | MODIFIER | c.494-487C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963870 | |||||||
chr1:146963951 | A | C | 104 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(101): Show |
105 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(102): Show |
intron_variant | MODIFIER | c.494-406A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963951 | |||||||
chr1:146963958 | G | A | 1 | a0002c0031t0003g0031 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.494-399G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963958 | |||||||
chr1:146963992 | A | T | 2 | a0002c0002t0013g0006 a0002c0002t0013g0007 |
2 | HG02602.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.494-365A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146963992 | |||||||
chr1:146964058 | C | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.494-299C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146964058 | |||||||
chr1:146964075 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.494-282C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146964075 | |||||||
chr1:146964076 | T | G | 67 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(64): Show |
67 | HG00639.hp1 HG00673.hp2 HG00735.hp1 others(64): Show |
intron_variant | MODIFIER | c.494-281T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146964076 | |||||||
chr1:146964108 | T | C | 96 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(93): Show |
97 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.494-249T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146964108 | |||||||
chr1:146964213 | A | G | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.494-144A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146964213 | |||||||
chr1:146964329 | TATCTG | T | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.494-26_494-22delTC others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr1 | 146964329 | ||||||
chr1:146964337 | T | C | 3 | a0018c0035t0010g0074 a0020c0041t0020g0078 a0022c0037t0010g0073 |
3 | HG02647.hp2 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.494-20T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 9/36 | chr1 | 146964337 | |||||||
chr1:146964432 | A | G | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
splice_region_variant&intron_variant | LOW | c.566+3A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964432 | |||||||
chr1:146964483 | A | T | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.566+54A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964483 | |||||||
chr1:146964485 | A | G | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.566+56A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964485 | |||||||
chr1:146964578 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.566+149C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964578 | |||||||
chr1:146964597 | C | G | 2 | a0002c0002t0003g0011 a0002c0002t0003g0012 |
2 | NA19010.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.566+168C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964597 | |||||||
chr1:146964763 | T | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.567-130T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964763 | |||||||
chr1:146964807 | C | T | 3 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0004c0003t0004g0058 |
4 | HG01071.hp1 HG01255.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.567-86C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964807 | |||||||
chr1:146964810 | C | T | 8 | a0002c0005t0005g0005 a0002c0005t0005g0017 a0002c0005t0005g0018 others(5): Show |
8 | HG01081.hp2 HG01261.hp1 HG01358.hp1 others(5): Show |
intron_variant | MODIFIER | c.567-83C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 10/36 | chr1 | 146964810 | |||||||
chr1:146965304 | A | G | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.778+200A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965304 | |||||||
chr1:146965359 | T | G | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.778+255T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965359 | |||||||
chr1:146965459 | A | ACTCT | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.778+358_778+361dup others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965459 | ||||||
chr1:146965531 | C | A | 1 | a0001c0001t0002g0094 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.778+427C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965531 | |||||||
chr1:146965548 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.778+444C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965548 | |||||||
chr1:146965598 | C | G | 1 | a0002c0032t0003g0004 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.778+494C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965598 | |||||||
chr1:146965622 | A | T | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.778+518A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965622 | |||||||
chr1:146965626 | CA | C | 57 | a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 others(54): Show |
58 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(55): Show |
intron_variant | MODIFIER | c.778+538delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965626 | ||||||
chr1:146965708 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.778+604C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965708 | |||||||
chr1:146965785 | G | C | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0014c0038t0007g0075 others(1): Show |
4 | HG01433.hp2 HG02145.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.779-679G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965785 | |||||||
chr1:146965791 | C | CA | 16 | a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0015 others(13): Show |
16 | HG01099.hp1 HG01109.hp2 HG01358.hp2 others(13): Show |
intron_variant | MODIFIER | c.779-644dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAA | 11 | a0002c0002t0003g0011 a0002c0002t0003g0013 a0002c0002t0003g0024 others(8): Show |
11 | HG01081.hp2 HG01261.hp1 HG01358.hp1 others(8): Show |
intron_variant | MODIFIER | c.779-645_779-644dup others(2): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAA | 5 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0005t0005g0017 others(2): Show |
5 | HG01433.hp2 HG02148.hp2 NA18950.hp1 others(2): Show |
intron_variant | MODIFIER | c.779-646_779-644dup others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAA | 15 | a0003c0004t0001g0044 a0003c0004t0001g0051 a0003c0004t0001g0052 others(12): Show |
15 | HG01071.hp2 HG01192.hp2 HG02273.hp1 others(12): Show |
intron_variant | MODIFIER | c.779-648_779-644dup others(5): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAAA | 10 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(7): Show |
10 | HG00639.hp1 HG00673.hp2 HG01346.hp1 others(7): Show |
intron_variant | MODIFIER | c.779-649_779-644dup others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAAAA others(1): Show |
10 | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 others(7): Show |
10 | HG00544.hp1 HG00544.hp2 HG00673.hp1 others(7): Show |
intron_variant | MODIFIER | c.779-651_779-644dup others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAAAA others(2): Show |
11 | a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0088 others(8): Show |
11 | HG00609.hp1 HG00609.hp2 HG01928.hp1 others(8): Show |
intron_variant | MODIFIER | c.779-652_779-644dup others(9): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAAAA others(3): Show |
3 | a0001c0001t0002g0099 a0001c0001t0008g0091 a0001c0001t0011g0002 |
4 | HG01255.hp2 HG01433.hp1 HG02451.hp2 others(1): Show |
intron_variant | MODIFIER | c.779-653_779-644dup others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAAAA others(4): Show |
3 | a0001c0001t0002g0080 a0001c0001t0002g0090 a0001c0001t0002g0095 |
3 | HG02148.hp1 NA18949.hp2 NA18950.hp2 |
intron_variant | MODIFIER | c.779-654_779-644dup others(11): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | C | CAAAAAAA others(6): Show |
1 | a0009c0009t0026g0117 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.779-656_779-644dup others(13): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | CA | C | 11 | a0001c0001t0002g0098 a0004c0003t0004g0001 a0004c0003t0004g0058 others(8): Show |
12 | HG00280.hp1 HG00280.hp2 HG00639.hp2 others(9): Show |
intron_variant | MODIFIER | c.779-644delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | CAAAAAAA | C | 4 | a0018c0035t0010g0074 a0020c0041t0020g0078 a0022c0037t0010g0073 others(1): Show |
4 | HG02647.hp2 HG03139.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.779-650_779-644del others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965791 | CAAAAAAA others(5): Show |
C | 2 | a0001c0001t0002g0082 a0001c0001t0002g0084 |
2 | HG00735.hp2 HG01081.hp1 |
intron_variant | MODIFIER | c.779-655_779-644del others(12): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr1 | 146965791 | ||||||
chr1:146965823 | C | A | 1 | a0013c0015t0021g0103 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.779-641C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965823 | |||||||
chr1:146965867 | A | G | 3 | a0002c0002t0003g0015 a0002c0002t0003g0032 a0002c0002t0024g0016 |
3 | HG01943.hp1 HG01978.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.779-597A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965867 | |||||||
chr1:146965882 | C | T | 1 | a0001c0001t0008g0104 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.779-582C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965882 | |||||||
chr1:146965929 | G | A | 1 | a0013c0015t0021g0103 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.779-535G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146965929 | |||||||
chr1:146966031 | C | T | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.779-433C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966031 | |||||||
chr1:146966128 | A | G | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.779-336A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966128 | |||||||
chr1:146966133 | A | G | 1 | a0003c0023t0001g0049 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.779-331A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966133 | |||||||
chr1:146966142 | A | T | 1 | a0003c0023t0001g0049 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.779-322A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966142 | |||||||
chr1:146966196 | A | G | 1 | a0002c0032t0003g0004 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.779-268A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966196 | |||||||
chr1:146966270 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.779-194C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966270 | |||||||
chr1:146966353 | T | A | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.779-111T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966353 | |||||||
chr1:146966370 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.779-94C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966370 | |||||||
chr1:146966379 | G | A | 2 | a0018c0035t0010g0074 a0022c0037t0010g0073 |
2 | HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.779-85G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966379 | |||||||
chr1:146966403 | T | C | 1 | a0001c0001t0008g0091 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.779-61T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 11/36 | chr1 | 146966403 | |||||||
chr1:146966712 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.988+39A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966712 | |||||||
chr1:146966714 | C | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.988+41C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966714 | |||||||
chr1:146966886 | C | T | 2 | a0027c0029t0001g0038 a0028c0028t0001g0037 |
2 | NA18968.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.988+213C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966886 | |||||||
chr1:146966891 | G | A | 3 | a0001c0001t0002g0092 a0001c0001t0002g0100 a0001c0001t0002g0101 |
3 | NA18947.hp1 NA19010.hp1 NA19056.hp2 |
intron_variant | MODIFIER | c.988+218G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966891 | |||||||
chr1:146966902 | A | G | 2 | a0002c0002t0003g0003 a0002c0002t0003g0010 |
2 | NA19002.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.988+229A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966902 | |||||||
chr1:146966921 | C | A | 68 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(65): Show |
69 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(66): Show |
intron_variant | MODIFIER | c.988+248C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966921 | |||||||
chr1:146966982 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.988+309G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146966982 | |||||||
chr1:146967033 | C | G | 1 | a0002c0002t0003g0010 | 1 | NA19085.hp2 | intron_variant | MODIFIER | c.988+360C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967033 | |||||||
chr1:146967084 | G | A | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.988+411G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967084 | |||||||
chr1:146967224 | C | G | 1 | a0002c0002t0003g0003 | 1 | NA19002.hp1 | intron_variant | MODIFIER | c.988+551C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967224 | |||||||
chr1:146967285 | G | A | 3 | a0002c0002t0003g0015 a0002c0002t0003g0032 a0002c0002t0024g0016 |
3 | HG01943.hp1 HG01978.hp2 HG01981.hp2 |
intron_variant | MODIFIER | c.988+612G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967285 | |||||||
chr1:146967361 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.988+688C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967361 | |||||||
chr1:146967461 | A | G | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.988+788A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967461 | |||||||
chr1:146967515 | T | G | 1 | a0003c0004t0001g0033 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.988+842T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967515 | |||||||
chr1:146967643 | A | G | 2 | a0027c0029t0001g0038 a0028c0028t0001g0037 |
2 | NA18968.hp2 NA19056.hp1 |
intron_variant | MODIFIER | c.989-805A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967643 | |||||||
chr1:146967662 | G | A | 9 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(6): Show |
9 | HG02145.hp2 HG02258.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.989-786G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967662 | |||||||
chr1:146967678 | G | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.989-770G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967678 | |||||||
chr1:146967691 | G | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.989-757G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967691 | |||||||
chr1:146967768 | A | G | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.989-680A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967768 | |||||||
chr1:146967803 | A | C | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.989-645A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967803 | |||||||
chr1:146967851 | T | TTGTTTCT others(6259): Show |
1 | a0002c0002t0003g0015 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.989-581_989-580ins others(6266): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr1 | 146967851 | ||||||
chr1:146967868 | G | C | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.989-580G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967868 | |||||||
chr1:146967874 | T | A | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.989-574T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967874 | |||||||
chr1:146967875 | C | T | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.989-573C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967875 | |||||||
chr1:146967880 | G | A | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.989-568G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146967880 | |||||||
chr1:146967891 | TAGG | T | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.989-555_989-553del others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr1 | 146967891 | ||||||
chr1:146968073 | G | C | 7 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 others(4): Show |
7 | HG02647.hp2 HG02965.hp1 HG03098.hp1 others(4): Show |
intron_variant | MODIFIER | c.989-375G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146968073 | |||||||
chr1:146968200 | T | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.989-248T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146968200 | |||||||
chr1:146968287 | AAGTC | A | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.989-158_989-155del others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr1 | 146968287 | ||||||
chr1:146968313 | G | A | 1 | a0011c0043t0009g0120 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.989-135G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146968313 | |||||||
chr1:146968430 | G | A | 1 | a0003c0004t0001g0033 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.989-18G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146968430 | |||||||
chr1:146968432 | G | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.989-16G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 12/36 | chr1 | 146968432 | |||||||
chr1:146968575 | CAG | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1091+26_1091+27del others(2): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968575 | |||||||
chr1:146968626 | T | G | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.1091+76T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968626 | |||||||
chr1:146968656 | A | C | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.1091+106A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968656 | |||||||
chr1:146968784 | T | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1091+234T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968784 | |||||||
chr1:146968797 | T | A | 24 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(21): Show |
24 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(21): Show |
intron_variant | MODIFIER | c.1091+247T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968797 | |||||||
chr1:146968832 | A | G | 2 | a0005c0006t0006g0110 a0005c0006t0014g0109 |
2 | HG02922.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.1091+282A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968832 | |||||||
chr1:146968869 | G | C | 29 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(26): Show |
30 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(27): Show |
intron_variant | MODIFIER | c.1091+319G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968869 | |||||||
chr1:146968929 | C | CTCAA | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1091+381_1091+384d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | INFO_REALIGN_3_PRIME | chr1 | 146968929 | ||||||
chr1:146968931 | C | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1091+381C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968931 | |||||||
chr1:146968935 | G | A | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.1091+385G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146968935 | |||||||
chr1:146969121 | G | A | 1 | a0001c0001t0011g0002 | 2 | HG01255.hp2 HG01433.hp1 |
intron_variant | MODIFIER | c.1092-261G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146969121 | |||||||
chr1:146969147 | A | G | 3 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0004c0003t0004g0058 |
4 | HG01071.hp1 HG01255.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.1092-235A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146969147 | |||||||
chr1:146969246 | T | A | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1092-136T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146969246 | |||||||
chr1:146969247 | C | T | 10 | a0003c0004t0001g0050 a0003c0004t0001g0051 a0003c0004t0001g0052 others(7): Show |
10 | HG00639.hp1 HG01099.hp2 HG01192.hp2 others(7): Show |
intron_variant | MODIFIER | c.1092-135C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146969247 | |||||||
chr1:146969342 | C | G | 1 | a0005c0006t0006g0114 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.1092-40C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146969342 | |||||||
chr1:146969353 | C | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1092-29C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 13/36 | chr1 | 146969353 | |||||||
chr1:146969628 | A | C | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.1306+32A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969628 | |||||||
chr1:146969668 | C | T | 1 | a0003c0021t0001g0047 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1306+72C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969668 | |||||||
chr1:146969669 | A | G | 1 | a0003c0021t0001g0047 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.1306+73A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969669 | |||||||
chr1:146969709 | G | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1306+113G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969709 | |||||||
chr1:146969830 | G | A | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
33 | HG01071.hp1 HG01081.hp2 HG01099.hp1 others(30): Show |
intron_variant | MODIFIER | c.1306+234G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969830 | |||||||
chr1:146969842 | A | C | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.1306+246A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969842 | |||||||
chr1:146969891 | G | A | 29 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(26): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.1306+295G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969891 | |||||||
chr1:146969896 | G | C | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1306+300G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969896 | |||||||
chr1:146969910 | G | A | 31 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(28): Show |
31 | HG00639.hp1 HG01081.hp2 HG01099.hp1 others(28): Show |
intron_variant | MODIFIER | c.1306+314G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969910 | |||||||
chr1:146969940 | T | C | 1 | a0001c0001t0008g0104 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.1306+344T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146969940 | |||||||
chr1:146970032 | T | G | 102 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(99): Show |
103 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(100): Show |
intron_variant | MODIFIER | c.1306+436T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970032 | |||||||
chr1:146970036 | G | T | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.1306+440G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970036 | |||||||
chr1:146970101 | C | T | 1 | a0009c0009t0007g0077 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.1306+505C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970101 | |||||||
chr1:146970160 | G | C | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.1307-487G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970160 | |||||||
chr1:146970189 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1307-458C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970189 | |||||||
chr1:146970366 | T | G | 3 | a0003c0004t0001g0052 a0003c0004t0001g0054 a0003c0023t0001g0049 |
3 | HG01346.hp1 HG02273.hp1 HG03239.hp1 |
intron_variant | MODIFIER | c.1307-281T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970366 | |||||||
chr1:146970443 | C | G | 1 | a0021c0016t0022g0102 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.1307-204C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970443 | |||||||
chr1:146970563 | G | A | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.1307-84G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970563 | |||||||
chr1:146970601 | A | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1307-46A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 14/36 | chr1 | 146970601 | |||||||
chr1:146970822 | C | G | 1 | a0004c0003t0028g0071 | 1 | HG01109.hp1 | intron_variant | MODIFIER | c.1379+103C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146970822 | |||||||
chr1:146970847 | A | C | 1 | a0002c0031t0003g0031 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.1379+128A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146970847 | |||||||
chr1:146970868 | T | C | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.1379+149T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146970868 | |||||||
chr1:146970878 | C | T | 1 | a0001c0013t0002g0089 | 1 | HG00544.hp2 | intron_variant | MODIFIER | c.1379+159C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146970878 | |||||||
chr1:146970887 | G | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1379+168G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146970887 | |||||||
chr1:146970956 | T | C | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.1380-227T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146970956 | |||||||
chr1:146971053 | A | T | 1 | a0026c0030t0003g0028 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.1380-130A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146971053 | |||||||
chr1:146971125 | G | C | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.1380-58G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 15/36 | chr1 | 146971125 | |||||||
chr1:146971489 | T | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1591+95T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971489 | |||||||
chr1:146971509 | A | G | 104 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(101): Show |
105 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(102): Show |
intron_variant | MODIFIER | c.1591+115A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971509 | |||||||
chr1:146971602 | G | C | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.1591+208G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971602 | |||||||
chr1:146971603 | T | A | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.1591+209T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971603 | |||||||
chr1:146971626 | G | A | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.1591+232G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971626 | |||||||
chr1:146971645 | G | A | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.1591+251G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971645 | |||||||
chr1:146971667 | A | G | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1591+273A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971667 | |||||||
chr1:146971704 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1591+310C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971704 | |||||||
chr1:146971709 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1591+315A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971709 | |||||||
chr1:146971711 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1591+317C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971711 | |||||||
chr1:146971713 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1591+319C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971713 | |||||||
chr1:146971750 | C | T | 1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1591+356C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971750 | |||||||
chr1:146971786 | A | G | 1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1591+392A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971786 | |||||||
chr1:146971815 | C | T | 29 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(26): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.1591+421C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971815 | |||||||
chr1:146971847 | A | G | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.1591+453A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971847 | |||||||
chr1:146971851 | G | A | 7 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(4): Show |
7 | HG02145.hp1 HG02258.hp1 HG02922.hp2 others(4): Show |
intron_variant | MODIFIER | c.1591+457G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971851 | |||||||
chr1:146971861 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1591+467C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971861 | |||||||
chr1:146971867 | C | G | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.1591+473C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971867 | |||||||
chr1:146971907 | A | G | 99 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(96): Show |
100 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(97): Show |
intron_variant | MODIFIER | c.1591+513A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971907 | |||||||
chr1:146971923 | CA | C | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.1591+544delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | INFO_REALIGN_3_PRIME | chr1 | 146971923 | ||||||
chr1:146971923 | CAA | C | 67 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(64): Show |
67 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(64): Show |
intron_variant | MODIFIER | c.1591+543_1591+544d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | INFO_REALIGN_3_PRIME | chr1 | 146971923 | ||||||
chr1:146971923 | CAAA | C | 27 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(24): Show |
28 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(25): Show |
intron_variant | MODIFIER | c.1591+542_1591+544d others(5): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | INFO_REALIGN_3_PRIME | chr1 | 146971923 | ||||||
chr1:146971948 | C | T | 4 | a0002c0002t0003g0014 a0011c0043t0009g0120 a0011c0044t0017g0119 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1591+554C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146971948 | |||||||
chr1:146972046 | C | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1591+652C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972046 | |||||||
chr1:146972086 | T | TC | 10 | a0004c0039t0007g0076 a0005c0006t0006g0110 a0005c0006t0006g0111 others(7): Show |
10 | HG01433.hp2 HG02145.hp1 HG02145.hp2 others(7): Show |
intron_variant | MODIFIER | c.1592-665_1592-664i others(3): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972086 | |||||||
chr1:146972087 | A | C | 89 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(86): Show |
90 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(87): Show |
intron_variant | MODIFIER | c.1592-664A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972087 | |||||||
chr1:146972160 | G | C | 91 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(88): Show |
92 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(89): Show |
intron_variant | MODIFIER | c.1592-591G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972160 | |||||||
chr1:146972307 | T | C | 1 | a0025c0020t0001g0043 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.1592-444T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972307 | |||||||
chr1:146972319 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1592-432G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972319 | |||||||
chr1:146972372 | T | C | 29 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(26): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.1592-379T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972372 | |||||||
chr1:146972520 | T | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1592-231T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972520 | |||||||
chr1:146972557 | G | C | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1592-194G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972557 | |||||||
chr1:146972561 | C | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1592-190C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972561 | |||||||
chr1:146972666 | A | G | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.1592-85A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972666 | |||||||
chr1:146972679 | C | T | 1 | a0002c0002t0013g0007 | 1 | HG03239.hp2 | intron_variant | MODIFIER | c.1592-72C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972679 | |||||||
chr1:146972719 | A | T | 1 | a0005c0006t0006g0111 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.1592-32A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 16/36 | chr1 | 146972719 | |||||||
chr1:146972978 | A | C | 3 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 |
3 | HG01109.hp2 HG01978.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.1801+18A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146972978 | |||||||
chr1:146973178 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1801+218A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973178 | |||||||
chr1:146973206 | ACC | A | 88 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(85): Show |
89 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(86): Show |
intron_variant | MODIFIER | c.1801+247_1801+248d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973206 | |||||||
chr1:146973208 | C | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1801+248C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973208 | |||||||
chr1:146973302 | G | C | 1 | a0002c0002t0003g0014 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.1801+342G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973302 | |||||||
chr1:146973318 | G | A | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.1801+358G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973318 | |||||||
chr1:146973370 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1801+410C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973370 | |||||||
chr1:146973495 | AGCAGGGA others(11): Show |
A | 28 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(25): Show |
28 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.1801+539_1801+556d others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr1 | 146973495 | ||||||
chr1:146973562 | A | G | 29 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(26): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.1801+602A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973562 | |||||||
chr1:146973649 | A | G | 5 | a0002c0005t0005g0019 a0003c0022t0001g0048 a0011c0043t0009g0120 others(2): Show |
5 | HG01081.hp2 HG02145.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.1801+689A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973649 | |||||||
chr1:146973748 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1801+788G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973748 | |||||||
chr1:146973802 | G | T | 70 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(67): Show |
71 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(68): Show |
intron_variant | MODIFIER | c.1801+842G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973802 | |||||||
chr1:146973865 | G | A | 1 | a0003c0004t0001g0033 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.1802-874G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973865 | |||||||
chr1:146973978 | T | G | 8 | a0001c0001t0002g0080 a0001c0001t0002g0094 a0001c0001t0011g0002 others(5): Show |
9 | HG00609.hp1 HG01255.hp2 HG01433.hp1 others(6): Show |
intron_variant | MODIFIER | c.1802-761T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973978 | |||||||
chr1:146973991 | C | T | 1 | a0003c0004t0025g0055 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.1802-748C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146973991 | |||||||
chr1:146974058 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-681A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974058 | |||||||
chr1:146974069 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-670C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974069 | |||||||
chr1:146974097 | A | G | 10 | a0002c0005t0005g0017 a0002c0005t0005g0018 a0002c0005t0005g0019 others(7): Show |
10 | HG01081.hp2 HG01261.hp1 HG01358.hp1 others(7): Show |
intron_variant | MODIFIER | c.1802-642A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974097 | |||||||
chr1:146974118 | ACTAT | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-616_1802-613d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr1 | 146974118 | ||||||
chr1:146974142 | C | T | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.1802-597C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974142 | |||||||
chr1:146974144 | G | C | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1802-595G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974144 | |||||||
chr1:146974159 | G | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-580G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974159 | |||||||
chr1:146974165 | T | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-574T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974165 | |||||||
chr1:146974166 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-573C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974166 | |||||||
chr1:146974171 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-568G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974171 | |||||||
chr1:146974182 | TAGG | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-555_1802-553d others(5): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr1 | 146974182 | ||||||
chr1:146974349 | T | C | 35 | a0001c0013t0002g0089 a0002c0002t0003g0003 a0002c0002t0003g0010 others(32): Show |
35 | HG00544.hp2 HG01081.hp2 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1802-390T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974349 | |||||||
chr1:146974355 | A | G | 35 | a0001c0013t0002g0089 a0002c0002t0003g0003 a0002c0002t0003g0010 others(32): Show |
35 | HG00544.hp2 HG01081.hp2 HG01099.hp1 others(32): Show |
intron_variant | MODIFIER | c.1802-384A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974355 | |||||||
chr1:146974356 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1802-383G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974356 | |||||||
chr1:146974363 | T | C | 37 | a0001c0013t0002g0089 a0002c0002t0003g0003 a0002c0002t0003g0010 others(34): Show |
37 | HG00544.hp2 HG00735.hp1 HG01081.hp2 others(34): Show |
intron_variant | MODIFIER | c.1802-376T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974363 | |||||||
chr1:146974364 | G | C | 2 | a0018c0035t0010g0074 a0022c0037t0010g0073 |
2 | HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.1802-375G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974364 | |||||||
chr1:146974445 | A | G | 1 | a0003c0022t0001g0048 | 1 | HG04204.hp2 | intron_variant | MODIFIER | c.1802-294A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974445 | |||||||
chr1:146974685 | C | T | 1 | a0001c0001t0002g0085 | 1 | HG01943.hp2 | intron_variant | MODIFIER | c.1802-54C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974685 | |||||||
chr1:146974695 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1802-44A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 17/36 | chr1 | 146974695 | |||||||
chr1:146974865 | A | G | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(64): Show |
intron_variant | MODIFIER | c.1904+24A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146974865 | |||||||
chr1:146974899 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1904+58G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146974899 | |||||||
chr1:146974900 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1904+59T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146974900 | |||||||
chr1:146974906 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1904+65A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146974906 | |||||||
chr1:146974965 | T | C | 5 | a0001c0001t0002g0095 a0001c0001t0002g0098 a0011c0043t0009g0120 others(2): Show |
5 | HG02145.hp2 HG02148.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.1904+124T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146974965 | |||||||
chr1:146974967 | T | C | 5 | a0001c0001t0002g0095 a0001c0001t0002g0098 a0011c0043t0009g0120 others(2): Show |
5 | HG02145.hp2 HG02148.hp1 HG02293.hp2 others(2): Show |
intron_variant | MODIFIER | c.1904+126T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146974967 | |||||||
chr1:146975088 | T | A | 2 | a0006c0007t0001g0035 a0006c0007t0001g0039 |
2 | HG02896.hp2 HG06807.hp1 |
intron_variant | MODIFIER | c.1904+247T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975088 | |||||||
chr1:146975160 | C | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1904+319C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975160 | |||||||
chr1:146975162 | T | C | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.1904+321T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975162 | |||||||
chr1:146975278 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1905-399C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975278 | |||||||
chr1:146975416 | G | A | 21 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 others(18): Show |
22 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(19): Show |
intron_variant | MODIFIER | c.1905-261G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975416 | |||||||
chr1:146975442 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1905-235G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975442 | |||||||
chr1:146975521 | A | C | 1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.1905-156A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975521 | |||||||
chr1:146975637 | C | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.1905-40C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975637 | |||||||
chr1:146975648 | C | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.1905-29C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975648 | |||||||
chr1:146975665 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.1905-12G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 18/36 | chr1 | 146975665 | |||||||
chr1:146975926 | C | G | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.2119+35C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146975926 | |||||||
chr1:146976063 | G | T | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.2119+172G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976063 | |||||||
chr1:146976137 | G | A | 1 | a0005c0006t0014g0109 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.2119+246G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976137 | |||||||
chr1:146976167 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2119+276C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976167 | |||||||
chr1:146976213 | T | C | 1 | a0003c0004t0025g0055 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.2119+322T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976213 | |||||||
chr1:146976323 | A | C | 1 | a0015c0034t0005g0022 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.2119+432A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976323 | |||||||
chr1:146976336 | T | A | 100 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(97): Show |
101 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.2119+445T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976336 | |||||||
chr1:146976392 | G | A | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.2119+501G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976392 | |||||||
chr1:146976438 | G | A | 1 | a0002c0002t0003g0030 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2120-491G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976438 | |||||||
chr1:146976569 | T | G | 2 | a0008c0011t0004g0065 a0008c0011t0004g0070 |
2 | HG00280.hp2 HG00639.hp2 |
intron_variant | MODIFIER | c.2120-360T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976569 | |||||||
chr1:146976587 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2120-342T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976587 | |||||||
chr1:146976588 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2120-341G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976588 | |||||||
chr1:146976624 | C | CTG | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2120-304_2120-303d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | INFO_REALIGN_3_PRIME | chr1 | 146976624 | ||||||
chr1:146976660 | G | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2120-269G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976660 | |||||||
chr1:146976700 | A | G | 1 | a0003c0004t0001g0079 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.2120-229A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 19/36 | chr1 | 146976700 | |||||||
chr1:146977083 | G | T | 1 | a0002c0002t0003g0011 | 1 | NA19010.hp2 | intron_variant | MODIFIER | c.2192+82G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977083 | |||||||
chr1:146977117 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2192+116T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977117 | |||||||
chr1:146977226 | T | C | 92 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(89): Show |
93 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(90): Show |
intron_variant | MODIFIER | c.2192+225T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977226 | |||||||
chr1:146977295 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2193-171G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977295 | |||||||
chr1:146977318 | G | A | 2 | a0004c0039t0007g0076 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG03486.hp1 |
intron_variant | MODIFIER | c.2193-148G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977318 | |||||||
chr1:146977381 | G | A | 96 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(93): Show |
97 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.2193-85G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977381 | |||||||
chr1:146977433 | C | A | 1 | a0007c0008t0012g0107 | 1 | HG02965.hp1 | intron_variant | MODIFIER | c.2193-33C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 20/36 | chr1 | 146977433 | |||||||
chr1:146978032 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2398+361G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978032 | |||||||
chr1:146978057 | C | T | 96 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(93): Show |
97 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.2398+386C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978057 | |||||||
chr1:146978164 | T | G | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.2398+493T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978164 | |||||||
chr1:146978166 | C | T | 1 | a0003c0025t0001g0040 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2398+495C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978166 | |||||||
chr1:146978203 | T | G | 1 | a0004c0039t0007g0076 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2398+532T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978203 | |||||||
chr1:146978221 | A | G | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.2398+550A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978221 | |||||||
chr1:146978244 | G | C | 3 | a0018c0035t0010g0074 a0020c0041t0020g0078 a0022c0037t0010g0073 |
3 | HG02647.hp2 HG03139.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.2398+573G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978244 | |||||||
chr1:146978260 | A | AT | 19 | a0001c0001t0002g0080 a0001c0001t0002g0083 a0001c0001t0002g0084 others(16): Show |
19 | HG00609.hp1 HG00609.hp2 HG00735.hp2 others(16): Show |
intron_variant | MODIFIER | c.2398+611dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978260 | A | ATT | 4 | a0005c0006t0014g0109 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG02145.hp1 HG02602.hp2 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2398+610_2398+611d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978260 | A | ATTTTTTT others(6): Show |
1 | a0024c0019t0023g0029 | 1 | NA18906.hp2 | intron_variant | MODIFIER | c.2398+599_2398+611d others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978260 | A | ATTTTTTT others(7): Show |
7 | a0002c0002t0003g0010 a0002c0002t0003g0012 a0002c0002t0003g0013 others(4): Show |
7 | HG01081.hp2 HG01981.hp1 HG02293.hp1 others(4): Show |
intron_variant | MODIFIER | c.2398+598_2398+611d others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978260 | A | ATTTTTTT others(8): Show |
14 | a0002c0002t0003g0003 a0002c0002t0003g0011 a0002c0002t0003g0024 others(11): Show |
14 | HG01109.hp2 HG01358.hp1 HG01358.hp2 others(11): Show |
intron_variant | MODIFIER | c.2398+597_2398+611d others(17): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978260 | A | ATTTTTTT others(9): Show |
6 | a0002c0002t0003g0015 a0002c0002t0003g0027 a0002c0002t0003g0032 others(3): Show |
6 | HG01099.hp1 HG01978.hp2 HG01981.hp2 others(3): Show |
intron_variant | MODIFIER | c.2398+596_2398+611d others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978260 | A | ATTTTTTT others(11): Show |
2 | a0002c0005t0005g0021 a0026c0030t0003g0028 |
2 | HG01261.hp1 NA18952.hp1 |
intron_variant | MODIFIER | c.2398+594_2398+611d others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr1 | 146978260 | ||||||
chr1:146978558 | C | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2399-401C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978558 | |||||||
chr1:146978578 | G | C | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.2399-381G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978578 | |||||||
chr1:146978641 | T | G | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.2399-318T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978641 | |||||||
chr1:146978651 | T | C | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.2399-308T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978651 | |||||||
chr1:146978787 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2399-172G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978787 | |||||||
chr1:146978902 | G | T | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.2399-57G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978902 | |||||||
chr1:146978951 | A | T | 1 | a0024c0019t0023g0029 | 1 | NA18906.hp2 | splice_region_variant&intron_variant | LOW | c.2399-8A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 21/36 | chr1 | 146978951 | |||||||
chr1:146979145 | T | A | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.2450+135T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979145 | |||||||
chr1:146979178 | A | G | 3 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0014g0109 |
3 | HG02922.hp2 HG03130.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.2450+168A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979178 | |||||||
chr1:146979288 | A | T | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.2450+278A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979288 | |||||||
chr1:146979321 | G | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2450+311G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979321 | |||||||
chr1:146979419 | A | C | 10 | a0004c0039t0007g0076 a0005c0006t0006g0110 a0005c0006t0006g0111 others(7): Show |
10 | HG01433.hp2 HG02145.hp1 HG02258.hp1 others(7): Show |
intron_variant | MODIFIER | c.2450+409A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979419 | |||||||
chr1:146979596 | C | G | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2450+586C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979596 | |||||||
chr1:146979610 | T | G | 1 | a0003c0004t0001g0036 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.2450+600T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146979610 | |||||||
chr1:146980051 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2450+1041C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980051 | |||||||
chr1:146980116 | A | T | 1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.2450+1106A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980116 | |||||||
chr1:146980142 | C | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2450+1132C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980142 | |||||||
chr1:146980240 | C | A | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.2450+1230C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980240 | |||||||
chr1:146980351 | G | T | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2450+1341G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980351 | |||||||
chr1:146980422 | G | C | 1 | a0009c0009t0007g0077 | 1 | HG02602.hp2 | intron_variant | MODIFIER | c.2450+1412G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980422 | |||||||
chr1:146980569 | A | G | 1 | a0001c0001t0008g0115 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2450+1559A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980569 | |||||||
chr1:146980578 | T | A | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.2450+1568T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980578 | |||||||
chr1:146980766 | C | T | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.2450+1756C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980766 | |||||||
chr1:146980831 | A | G | 28 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(25): Show |
28 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.2450+1821A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980831 | |||||||
chr1:146980843 | T | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2450+1833T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980843 | |||||||
chr1:146980890 | G | A | 6 | a0003c0004t0001g0050 a0003c0004t0001g0051 a0004c0039t0007g0076 others(3): Show |
6 | HG00639.hp1 HG01192.hp2 HG01433.hp2 others(3): Show |
intron_variant | MODIFIER | c.2450+1880G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980890 | |||||||
chr1:146980937 | A | C | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2450+1927A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146980937 | |||||||
chr1:146981097 | A | G | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.2451-1831A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981097 | |||||||
chr1:146981234 | C | A | 1 | a0006c0007t0001g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.2451-1694C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981234 | |||||||
chr1:146981277 | T | TA | 7 | a0003c0004t0001g0041 a0003c0022t0001g0048 a0004c0003t0004g0001 others(4): Show |
8 | HG00280.hp1 HG01071.hp1 HG01255.hp1 others(5): Show |
intron_variant | MODIFIER | c.2451-1633dupA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr1 | 146981277 | ||||||
chr1:146981277 | TA | T | 8 | a0003c0004t0001g0050 a0003c0004t0001g0051 a0003c0025t0001g0040 others(5): Show |
8 | HG00639.hp1 HG01192.hp2 HG01261.hp2 others(5): Show |
intron_variant | MODIFIER | c.2451-1633delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr1 | 146981277 | ||||||
chr1:146981277 | TAA | T | 21 | a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0013 others(18): Show |
21 | HG01081.hp2 HG01261.hp1 HG01358.hp1 others(18): Show |
intron_variant | MODIFIER | c.2451-1634_2451-163 others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr1 | 146981277 | ||||||
chr1:146981277 | TAAAAA | T | 5 | a0001c0001t0002g0085 a0011c0043t0009g0120 a0011c0044t0017g0119 others(2): Show |
5 | HG00735.hp1 HG01943.hp2 HG02647.hp1 others(2): Show |
intron_variant | MODIFIER | c.2451-1637_2451-163 others(9): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr1 | 146981277 | ||||||
chr1:146981280 | A | ATATATAT others(6): Show |
1 | a0001c0001t0002g0094 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2451-1648_2451-164 others(17): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981280 | |||||||
chr1:146981282 | A | ATATATAT | 4 | a0001c0001t0002g0086 a0001c0001t0002g0090 a0001c0001t0008g0115 others(1): Show |
4 | HG00544.hp2 HG02895.hp1 NA18950.hp2 others(1): Show |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(11): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | ATATATAT others(2): Show |
3 | a0001c0001t0002g0080 a0001c0001t0002g0105 a0001c0001t0008g0091 |
3 | HG02451.hp2 NA18939.hp2 NA18949.hp2 |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(13): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | ATATATAT others(4): Show |
3 | a0001c0001t0002g0098 a0001c0001t0011g0002 a0001c0014t0002g0093 |
4 | HG00673.hp1 HG01255.hp2 HG01433.hp1 others(1): Show |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | ATATATAT others(6): Show |
2 | a0001c0001t0002g0081 a0001c0001t0002g0097 |
2 | HG01928.hp1 NA18968.hp1 |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(17): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | ATATATAT others(8): Show |
5 | a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 others(2): Show |
5 | HG00544.hp1 HG00609.hp2 HG00735.hp2 others(2): Show |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(19): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | ATATATAT others(10): Show |
2 | a0001c0001t0002g0099 a0001c0001t0008g0104 |
2 | HG02896.hp1 NA19070.hp1 |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(21): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | ATATATAT others(12): Show |
4 | a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0100 others(1): Show |
4 | HG02056.hp1 HG02148.hp1 NA18947.hp1 others(1): Show |
intron_variant | MODIFIER | c.2451-1646_2451-164 others(23): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981282 | A | T | 1 | a0001c0001t0002g0094 | 1 | HG00609.hp1 | intron_variant | MODIFIER | c.2451-1646A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981282 | |||||||
chr1:146981284 | A | ATATATAT others(4): Show |
1 | a0001c0001t0002g0088 | 1 | HG02273.hp2 | intron_variant | MODIFIER | c.2451-1644_2451-164 others(15): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981284 | |||||||
chr1:146981284 | A | T | 24 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(21): Show |
25 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(22): Show |
intron_variant | MODIFIER | c.2451-1644A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981284 | |||||||
chr1:146981286 | A | T | 27 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(24): Show |
28 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(25): Show |
intron_variant | MODIFIER | c.2451-1642A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981286 | |||||||
chr1:146981288 | A | T | 36 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(33): Show |
37 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(34): Show |
intron_variant | MODIFIER | c.2451-1640A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981288 | |||||||
chr1:146981290 | A | ATAT | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2451-1638_2451-163 others(7): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981290 | |||||||
chr1:146981290 | A | T | 53 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(50): Show |
54 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(51): Show |
intron_variant | MODIFIER | c.2451-1638A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981290 | |||||||
chr1:146981292 | A | AT | 5 | a0003c0021t0001g0047 a0004c0003t0004g0068 a0010c0012t0004g0060 others(2): Show |
5 | HG02258.hp2 HG03098.hp2 HG03139.hp2 others(2): Show |
intron_variant | MODIFIER | c.2451-1636_2451-163 others(5): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981292 | |||||||
chr1:146981292 | A | T | 70 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(67): Show |
71 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(68): Show |
intron_variant | MODIFIER | c.2451-1636A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981292 | |||||||
chr1:146981294 | A | AT | 10 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0042 others(7): Show |
10 | HG00280.hp2 HG00639.hp2 HG00673.hp2 others(7): Show |
intron_variant | MODIFIER | c.2451-1634_2451-163 others(5): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981294 | |||||||
chr1:146981294 | A | T | 91 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(88): Show |
92 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(89): Show |
intron_variant | MODIFIER | c.2451-1634A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981294 | |||||||
chr1:146981314 | T | C | 23 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(20): Show |
23 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(20): Show |
intron_variant | MODIFIER | c.2451-1614T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981314 | |||||||
chr1:146981334 | T | C | 23 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(20): Show |
24 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.2451-1594T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981334 | |||||||
chr1:146981374 | A | C | 1 | a0009c0009t0026g0117 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2451-1554A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981374 | |||||||
chr1:146981395 | G | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2451-1533G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981395 | |||||||
chr1:146981702 | G | C | 1 | a0009c0009t0026g0117 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2451-1226G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981702 | |||||||
chr1:146981903 | C | G | 1 | a0004c0003t0004g0061 | 1 | HG01192.hp1 | intron_variant | MODIFIER | c.2451-1025C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981903 | |||||||
chr1:146981946 | CA | C | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.2451-981delA | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981946 | |||||||
chr1:146981994 | C | T | 1 | a0002c0002t0003g0030 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.2451-934C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146981994 | |||||||
chr1:146982062 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2451-866G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982062 | |||||||
chr1:146982240 | C | G | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.2451-688C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982240 | |||||||
chr1:146982273 | C | T | 1 | a0001c0001t0002g0084 | 1 | HG00735.hp2 | intron_variant | MODIFIER | c.2451-655C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982273 | |||||||
chr1:146982298 | C | G | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(24): Show |
intron_variant | MODIFIER | c.2451-630C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982298 | |||||||
chr1:146982382 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2451-546T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982382 | |||||||
chr1:146982419 | A | G | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.2451-509A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982419 | |||||||
chr1:146982620 | G | A | 1 | a0009c0009t0026g0117 | 1 | HG02145.hp1 | intron_variant | MODIFIER | c.2451-308G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982620 | |||||||
chr1:146982677 | A | G | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.2451-251A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 22/36 | chr1 | 146982677 | |||||||
chr1:146983111 | G | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2614+20G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983111 | |||||||
chr1:146983132 | T | G | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.2614+41T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983132 | |||||||
chr1:146983217 | A | T | 29 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(26): Show |
29 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(26): Show |
intron_variant | MODIFIER | c.2614+126A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983217 | |||||||
chr1:146983281 | C | T | 103 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(100): Show |
104 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(101): Show |
intron_variant | MODIFIER | c.2614+190C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983281 | |||||||
chr1:146983311 | G | A | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.2614+220G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983311 | |||||||
chr1:146983371 | C | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2614+280C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983371 | |||||||
chr1:146983456 | T | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2614+365T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983456 | |||||||
chr1:146983601 | G | C | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.2614+510G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983601 | |||||||
chr1:146983613 | G | A | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2615-521G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983613 | |||||||
chr1:146983755 | C | T | 2 | a0009c0009t0007g0077 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG02602.hp2 |
intron_variant | MODIFIER | c.2615-379C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983755 | |||||||
chr1:146983783 | G | C | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.2615-351G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983783 | |||||||
chr1:146983928 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2615-206A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146983928 | |||||||
chr1:146984099 | C | T | 96 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(93): Show |
97 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(94): Show |
intron_variant | MODIFIER | c.2615-35C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 23/36 | chr1 | 146984099 | |||||||
chr1:146984218 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2666+33A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984218 | |||||||
chr1:146984261 | G | A | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.2666+76G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984261 | |||||||
chr1:146984268 | A | C | 1 | a0001c0001t0008g0115 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.2666+83A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984268 | |||||||
chr1:146984329 | C | T | 2 | a0002c0002t0013g0006 a0002c0002t0013g0007 |
2 | HG02602.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.2666+144C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984329 | |||||||
chr1:146984461 | T | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2666+276T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984461 | |||||||
chr1:146984537 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-276C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984537 | |||||||
chr1:146984555 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2667-258C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984555 | |||||||
chr1:146984557 | G | A | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2667-256G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984557 | |||||||
chr1:146984577 | C | CTG | 2 | a0018c0035t0010g0074 a0022c0037t0010g0073 |
2 | HG02647.hp2 HG06807.hp2 |
intron_variant | MODIFIER | c.2667-190_2667-189d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | C | CTGTG | 4 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0016c0042t0009g0118 others(1): Show |
5 | HG01255.hp1 HG01346.hp2 HG02145.hp2 others(2): Show |
intron_variant | MODIFIER | c.2667-192_2667-189d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | C | CTGTGTG | 2 | a0004c0003t0027g0066 a0020c0041t0020g0078 |
2 | HG01261.hp2 HG03139.hp2 |
intron_variant | MODIFIER | c.2667-194_2667-189d others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | C | CTGTGTGT others(1): Show |
2 | a0004c0003t0004g0058 a0011c0043t0009g0120 |
2 | HG01071.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2667-196_2667-189d others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | C | CTGTGTGT others(3): Show |
1 | a0011c0044t0017g0119 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2667-198_2667-189d others(12): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTG | C | 3 | a0004c0003t0004g0067 a0007c0008t0012g0108 a0008c0011t0004g0070 |
3 | HG00280.hp2 HG03130.hp2 NA20805.hp2 |
intron_variant | MODIFIER | c.2667-190_2667-189d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTG | C | 2 | a0007c0008t0015g0106 a0009c0009t0026g0117 |
2 | HG02145.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.2667-192_2667-189d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTGTGT others(1): Show |
C | 2 | a0003c0004t0001g0054 a0003c0026t0001g0046 |
2 | HG01346.hp1 HG02895.hp2 |
intron_variant | MODIFIER | c.2667-196_2667-189d others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTGTGT others(3): Show |
C | 10 | a0003c0004t0001g0036 a0003c0004t0001g0042 a0003c0021t0001g0047 others(7): Show |
10 | HG00673.hp2 HG02258.hp1 HG02922.hp2 others(7): Show |
intron_variant | MODIFIER | c.2667-198_2667-189d others(12): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTGTGT others(5): Show |
C | 23 | a0001c0001t0002g0094 a0003c0004t0001g0033 a0003c0004t0001g0041 others(20): Show |
23 | HG00609.hp1 HG00639.hp1 HG00735.hp1 others(20): Show |
intron_variant | MODIFIER | c.2667-200_2667-189d others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTGTGT others(7): Show |
C | 55 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(52): Show |
56 | HG00544.hp1 HG00544.hp2 HG00609.hp2 others(53): Show |
intron_variant | MODIFIER | c.2667-202_2667-189d others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTGTGT others(9): Show |
C | 5 | a0004c0003t0004g0059 a0004c0003t0004g0064 a0004c0003t0004g0068 others(2): Show |
5 | HG02258.hp2 HG02451.hp1 HG02965.hp2 others(2): Show |
intron_variant | MODIFIER | c.2667-204_2667-189d others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984577 | CTGTGTGT others(11): Show |
C | 1 | a0004c0039t0007g0076 | 1 | HG03486.hp1 | intron_variant | MODIFIER | c.2667-206_2667-189d others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984577 | ||||||
chr1:146984605 | G | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-208G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984605 | |||||||
chr1:146984638 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-175C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984638 | |||||||
chr1:146984653 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2667-160C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984653 | |||||||
chr1:146984656 | A | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-157A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984656 | |||||||
chr1:146984664 | A | C | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.2667-149A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984664 | |||||||
chr1:146984684 | T | C | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-129T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984684 | |||||||
chr1:146984685 | G | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-128G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984685 | |||||||
chr1:146984719 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-94C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984719 | |||||||
chr1:146984720 | A | T | 1 | a0028c0028t0001g0037 | 1 | NA19056.hp1 | intron_variant | MODIFIER | c.2667-93A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984720 | |||||||
chr1:146984724 | T | A | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-89T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984724 | |||||||
chr1:146984725 | C | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2667-88C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984725 | |||||||
chr1:146984756 | G | A | 22 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(19): Show |
22 | HG01081.hp2 HG01099.hp1 HG01261.hp1 others(19): Show |
intron_variant | MODIFIER | c.2667-57G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | chr1 | 146984756 | |||||||
chr1:146984772 | A | AT | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2667-39dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984772 | ||||||
chr1:146984802 | C | CACTTTCC others(1532): Show |
2 | a0027c0029t0001g0038 a0028c0028t0001g0037 |
2 | NA18968.hp2 NA19056.hp1 |
splice_region_variant&intron_variant | LOW | c.2667-6_2667-5insCC others(1537): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 24/36 | INFO_REALIGN_3_PRIME | chr1 | 146984802 | ||||||
chr1:146984882 | A | AACTCCTT others(4724): Show |
1 | a0011c0043t0009g0120 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.2839+135_2839+136i others(4733): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr1 | 146984882 | ||||||
chr1:146984882 | A | AACTCCTT others(4726): Show |
1 | a0011c0044t0017g0119 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.2839+135_2839+136i others(4735): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | INFO_REALIGN_3_PRIME | chr1 | 146984882 | ||||||
chr1:146984913 | T | TCATGCCA others(1533): Show |
1 | a0003c0021t0001g0047 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.2891+67_2891+68ins others(1540): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(1533): Show |
13 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(10): Show |
13 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(10): Show |
intron_variant | MODIFIER | c.2891+67_2891+68ins others(1540): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(3072): Show |
1 | a0003c0023t0001g0049 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.2891+67_2891+68ins others(3079): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(7830): Show |
1 | a0003c0024t0001g0053 | 1 | HG01099.hp2 | intron_variant | MODIFIER | c.2891+67_2891+68ins others(7837): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(6288): Show |
1 | a0003c0025t0001g0040 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.2891+67_2891+68ins others(6295): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(12577): Show |
1 | a0003c0026t0001g0046 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.2891+67_2891+68ins others(12584): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(1533): Show |
1 | a0003c0027t0001g0034 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.2891+67_2891+68ins others(1540): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(12599): Show |
1 | a0022c0037t0010g0073 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.2891+294_2891+295i others(12608): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146984913 | T | TCATGCCA others(12599): Show |
1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.2891+294_2891+295i others(12608): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146984913 | ||||||
chr1:146985121 | G | A | 59 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(56): Show |
60 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(57): Show |
intron_variant | MODIFIER | c.2839+136G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985121 | |||||||
chr1:146985197 | C | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(26): Show |
intron_variant | MODIFIER | c.2839+212C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985197 | |||||||
chr1:146985218 | T | A | 58 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(55): Show |
59 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(56): Show |
intron_variant | MODIFIER | c.2839+233T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985218 | |||||||
chr1:146985278 | G | C | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.2839+293G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985278 | |||||||
chr1:146985283 | C | T | 2 | a0001c0001t0002g0081 a0001c0001t0002g0088 |
2 | HG01928.hp1 HG02273.hp2 |
intron_variant | MODIFIER | c.2839+298C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985283 | |||||||
chr1:146985469 | G | C | 2 | a0001c0001t0002g0096 a0001c0013t0002g0089 |
2 | HG00544.hp2 HG02056.hp1 |
intron_variant | MODIFIER | c.2840-236G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985469 | |||||||
chr1:146985496 | A | G | 5 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(2): Show |
5 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(2): Show |
intron_variant | MODIFIER | c.2840-209A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 25/36 | chr1 | 146985496 | |||||||
chr1:146985767 | G | A | 27 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(24): Show |
28 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(25): Show |
intron_variant | MODIFIER | c.2891+11G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985767 | |||||||
chr1:146985824 | G | C | 55 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(52): Show |
55 | HG00639.hp1 HG00673.hp2 HG00735.hp1 others(52): Show |
intron_variant | MODIFIER | c.2891+68G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985824 | |||||||
chr1:146985851 | A | C | 30 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(27): Show |
30 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(27): Show |
intron_variant | MODIFIER | c.2891+95A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985851 | |||||||
chr1:146985852 | A | G | 23 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(20): Show |
24 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(21): Show |
intron_variant | MODIFIER | c.2891+96A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985852 | |||||||
chr1:146985861 | G | A | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2891+105G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985861 | |||||||
chr1:146985871 | T | C | 3 | a0001c0013t0002g0089 a0011c0043t0009g0120 a0011c0044t0017g0119 |
3 | HG00544.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2891+115T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985871 | |||||||
chr1:146985876 | C | A | 3 | a0001c0013t0002g0089 a0011c0043t0009g0120 a0011c0044t0017g0119 |
3 | HG00544.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2891+120C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985876 | |||||||
chr1:146985934 | G | A | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2891+178G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985934 | |||||||
chr1:146985977 | G | A | 28 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(25): Show |
29 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(26): Show |
intron_variant | MODIFIER | c.2891+221G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146985977 | |||||||
chr1:146986032 | G | C | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.2891+276G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986032 | |||||||
chr1:146986036 | T | G | 4 | a0004c0039t0007g0076 a0009c0009t0007g0077 a0009c0009t0026g0117 others(1): Show |
4 | HG01433.hp2 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.2891+280T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986036 | |||||||
chr1:146986051 | A | G | 7 | a0003c0004t0001g0042 a0004c0039t0007g0076 a0009c0009t0007g0077 others(4): Show |
7 | HG00673.hp2 HG01433.hp2 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.2891+295A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986051 | |||||||
chr1:146986060 | C | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2892-292C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986060 | |||||||
chr1:146986074 | A | ATCAGAGT others(4757): Show |
1 | a0001c0001t0002g0095 | 1 | HG02148.hp1 | intron_variant | MODIFIER | c.2892-239_2892-238i others(4766): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146986074 | ||||||
chr1:146986074 | A | C | 9 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(6): Show |
9 | HG01433.hp2 HG02258.hp1 HG02647.hp1 others(6): Show |
intron_variant | MODIFIER | c.2892-278A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986074 | |||||||
chr1:146986094 | C | T | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.2892-258C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986094 | |||||||
chr1:146986165 | C | CT | 33 | a0001c0001t0002g0095 a0002c0002t0003g0003 a0002c0002t0003g0010 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.2892-185dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | 146986165 | ||||||
chr1:146986219 | A | G | 1 | a0003c0004t0001g0042 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.2892-133A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986219 | |||||||
chr1:146986229 | C | T | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.2892-123C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986229 | |||||||
chr1:146986281 | C | T | 94 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(91): Show |
95 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(92): Show |
intron_variant | MODIFIER | c.2892-71C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | chr1 | 146986281 | |||||||
chr1:146986582 | T | C | 5 | a0003c0004t0001g0042 a0004c0039t0007g0076 a0009c0009t0007g0077 others(2): Show |
5 | HG00673.hp2 HG01433.hp2 HG02145.hp1 others(2): Show |
intron_variant | MODIFIER | c.3064+58T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/36 | chr1 | 146986582 | |||||||
chr1:146986646 | G | T | 1 | a0001c0001t0008g0091 | 1 | HG02451.hp2 | intron_variant | MODIFIER | c.3064+122G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/36 | chr1 | 146986646 | |||||||
chr1:146986679 | G | T | 22 | a0003c0004t0001g0033 a0003c0004t0001g0041 a0003c0004t0001g0044 others(19): Show |
22 | HG00639.hp1 HG01071.hp2 HG01099.hp2 others(19): Show |
intron_variant | MODIFIER | c.3064+155G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/36 | chr1 | 146986679 | |||||||
chr1:146986750 | A | G | 1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.3064+226A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/36 | chr1 | 146986750 | |||||||
chr1:146986771 | G | A | 101 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(98): Show |
102 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.3064+247G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/36 | chr1 | 146986771 | |||||||
chr1:146986909 | C | T | 1 | a0019c0017t0019g0112 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3065-325C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 27/36 | chr1 | 146986909 | |||||||
chr1:146987351 | T | C | 4 | a0003c0004t0001g0042 a0004c0003t0027g0066 a0011c0043t0009g0120 others(1): Show |
4 | HG00673.hp2 HG01261.hp2 HG02647.hp1 others(1): Show |
intron_variant | MODIFIER | c.3116+66T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987351 | |||||||
chr1:146987356 | C | T | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.3116+71C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987356 | |||||||
chr1:146987441 | T | C | 3 | a0003c0004t0001g0042 a0011c0043t0009g0120 a0011c0044t0017g0119 |
3 | HG00673.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3116+156T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987441 | |||||||
chr1:146987487 | C | T | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3116+202C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987487 | |||||||
chr1:146987573 | CTT | C | 4 | a0003c0004t0001g0079 a0003c0024t0001g0053 a0003c0025t0001g0040 others(1): Show |
4 | HG01099.hp2 HG02698.hp1 HG02698.hp2 others(1): Show |
intron_variant | MODIFIER | c.3116+291_3116+292d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987573 | ||||||
chr1:146987575 | T | TTTCATGA others(9505): Show |
1 | a0003c0004t0001g0041 | 1 | NA18970.hp2 | intron_variant | MODIFIER | c.3117-264_3117-263i others(9514): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987575 | ||||||
chr1:146987575 | T | TTTCATGA others(4746): Show |
2 | a0003c0004t0001g0050 a0003c0004t0001g0051 |
2 | HG00639.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3117-264_3117-263i others(4755): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987575 | ||||||
chr1:146987575 | T | TTTCATGA others(11047): Show |
1 | a0003c0021t0001g0047 | 1 | HG03704.hp1 | intron_variant | MODIFIER | c.3117-264_3117-263i others(11056): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987575 | ||||||
chr1:146987575 | T | TTTCATGA others(17342): Show |
1 | a0003c0004t0001g0033 | 1 | NA18952.hp2 | intron_variant | MODIFIER | c.3117-264_3117-263i others(17351): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987575 | ||||||
chr1:146987575 | T | TTTCATGA others(11045): Show |
1 | a0003c0004t0001g0116 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.3117-264_3117-263i others(11054): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987575 | ||||||
chr1:146987675 | TTCTC | T | 14 | a0003c0004t0001g0036 a0003c0004t0001g0042 a0003c0004t0001g0044 others(11): Show |
14 | HG00673.hp2 HG01071.hp2 HG01346.hp1 others(11): Show |
intron_variant | MODIFIER | c.3117-263_3117-260d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987675 | ||||||
chr1:146987691 | CTCTTTCT others(19): Show |
C | 1 | a0011c0043t0009g0120 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3117-257_3117-232d others(28): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987691 | ||||||
chr1:146987693 | CTTTCTCT others(17): Show |
C | 1 | a0011c0044t0017g0119 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3117-259_3117-236d others(26): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987693 | ||||||
chr1:146987721 | T | C | 1 | a0011c0043t0009g0120 | 1 | HG03453.hp2 | intron_variant | MODIFIER | c.3117-233T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987721 | |||||||
chr1:146987721 | T | G | 1 | a0011c0044t0017g0119 | 1 | HG02647.hp1 | intron_variant | MODIFIER | c.3117-233T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987721 | |||||||
chr1:146987733 | T | G | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3117-221T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987733 | |||||||
chr1:146987733 | T | TTG | 33 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(30): Show |
34 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(31): Show |
intron_variant | MODIFIER | c.3117-195_3117-194d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987733 | ||||||
chr1:146987733 | T | TTGTG | 4 | a0001c0001t0008g0091 a0001c0001t0008g0104 a0004c0039t0007g0076 others(1): Show |
4 | HG02145.hp1 HG02451.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.3117-197_3117-194d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987733 | ||||||
chr1:146987733 | T | TTGTGTG | 3 | a0001c0001t0008g0115 a0005c0006t0006g0114 a0017c0018t0018g0113 |
3 | HG02258.hp1 HG02895.hp1 HG03486.hp2 |
intron_variant | MODIFIER | c.3117-199_3117-194d others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987733 | ||||||
chr1:146987733 | T | TTGTGTGT others(1): Show |
4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0014g0109 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03139.hp1 others(1): Show |
intron_variant | MODIFIER | c.3117-201_3117-194d others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987733 | ||||||
chr1:146987733 | TTG | T | 6 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 others(3): Show |
6 | HG01109.hp2 HG01978.hp1 HG02129.hp1 others(3): Show |
intron_variant | MODIFIER | c.3117-195_3117-194d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr1 | 146987733 | ||||||
chr1:146987757 | G | C | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3117-197G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987757 | |||||||
chr1:146987759 | G | A | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3117-195G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987759 | |||||||
chr1:146987910 | G | C | 101 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(98): Show |
102 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(99): Show |
intron_variant | MODIFIER | c.3117-44G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 28/36 | chr1 | 146987910 | |||||||
chr1:146988134 | C | T | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
splice_region_variant&intron_variant | LOW | c.3289+8C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988134 | |||||||
chr1:146988225 | A | C | 22 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(19): Show |
23 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(20): Show |
intron_variant | MODIFIER | c.3289+99A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988225 | |||||||
chr1:146988358 | T | C | 3 | a0007c0008t0012g0107 a0007c0008t0012g0108 a0007c0008t0015g0106 |
3 | HG02965.hp1 HG03098.hp1 HG03130.hp2 |
intron_variant | MODIFIER | c.3289+232T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988358 | |||||||
chr1:146988385 | A | T | 5 | a0003c0004t0001g0044 a0003c0023t0001g0049 a0006c0007t0001g0035 others(2): Show |
5 | HG02896.hp2 HG03239.hp1 HG03579.hp1 others(2): Show |
intron_variant | MODIFIER | c.3289+259A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988385 | |||||||
chr1:146988402 | A | G | 1 | a0013c0015t0021g0103 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.3289+276A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988402 | |||||||
chr1:146988421 | G | A | 34 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(31): Show |
34 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(31): Show |
intron_variant | MODIFIER | c.3289+295G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988421 | |||||||
chr1:146988528 | T | C | 28 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(25): Show |
28 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.3290-313T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988528 | |||||||
chr1:146988575 | A | G | 25 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(22): Show |
26 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(23): Show |
intron_variant | MODIFIER | c.3290-266A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988575 | |||||||
chr1:146988576 | A | T | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3290-265A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988576 | |||||||
chr1:146988687 | C | T | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3290-154C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 29/36 | chr1 | 146988687 | |||||||
chr1:146988952 | A | G | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
splice_region_variant&intron_variant | LOW | c.3398+3A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146988952 | |||||||
chr1:146989032 | G | A | 1 | a0002c0002t0003g0027 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3398+83G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989032 | |||||||
chr1:146989105 | T | A | 2 | a0007c0008t0012g0107 a0007c0008t0015g0106 |
2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3398+156T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989105 | |||||||
chr1:146989127 | T | A | 1 | a0001c0001t0002g0105 | 1 | NA18939.hp2 | intron_variant | MODIFIER | c.3398+178T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989127 | |||||||
chr1:146989133 | A | C | 7 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 others(4): Show |
7 | HG01109.hp2 HG01358.hp2 HG01978.hp1 others(4): Show |
intron_variant | MODIFIER | c.3398+184A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989133 | |||||||
chr1:146989134 | G | C | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.3398+185G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989134 | |||||||
chr1:146989190 | C | T | 2 | a0013c0015t0021g0103 a0021c0016t0022g0102 |
2 | HG00735.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.3398+241C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989190 | |||||||
chr1:146989265 | G | A | 3 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0014g0109 |
3 | HG02922.hp2 HG03130.hp1 HG03579.hp2 |
intron_variant | MODIFIER | c.3399-309G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989265 | |||||||
chr1:146989334 | CTCTCTG | C | 3 | a0003c0004t0001g0044 a0008c0011t0004g0065 a0008c0011t0004g0070 |
3 | HG00280.hp2 HG00639.hp2 HG03579.hp1 |
intron_variant | MODIFIER | c.3399-204_3399-199d others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989334 | ||||||
chr1:146989334 | CTCTCTGT others(5): Show |
C | 27 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(24): Show |
27 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(24): Show |
intron_variant | MODIFIER | c.3399-210_3399-199d others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989334 | ||||||
chr1:146989334 | CTCTCTGT others(11): Show |
C | 1 | a0002c0002t0003g0024 | 1 | HG04204.hp1 | intron_variant | MODIFIER | c.3399-216_3399-199d others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989334 | ||||||
chr1:146989340 | G | GTCTCTA | 2 | a0007c0008t0012g0107 a0007c0008t0015g0106 |
2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3399-229_3399-228i others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989340 | ||||||
chr1:146989346 | G | A | 68 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(65): Show |
69 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(66): Show |
intron_variant | MODIFIER | c.3399-228G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989346 | |||||||
chr1:146989352 | G | A | 1 | a0003c0004t0001g0044 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3399-222G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989352 | |||||||
chr1:146989475 | C | T | 1 | a0005c0006t0006g0114 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3399-99C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989475 | |||||||
chr1:146989495 | T | C | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3399-79T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989495 | |||||||
chr1:146989527 | A | G | 81 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(78): Show |
82 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(79): Show |
intron_variant | MODIFIER | c.3399-47A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | chr1 | 146989527 | |||||||
chr1:146989566 | C | CT | 61 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(58): Show |
62 | HG00280.hp2 HG00544.hp1 HG00609.hp1 others(59): Show |
splice_region_variant&intron_variant | LOW | c.3399-5dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTCCAG others(1533): Show |
2 | a0003c0004t0001g0054 a0027c0029t0001g0038 |
2 | HG01346.hp1 NA18968.hp2 |
intron_variant | MODIFIER | c.3572-153_3572-152i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTCCAG others(1533): Show |
1 | a0003c0004t0001g0052 | 1 | HG02273.hp1 | intron_variant | MODIFIER | c.3572-153_3572-152i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(1534): Show |
6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(1539): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(15682): Show |
1 | a0007c0008t0015g0106 | 1 | HG03098.hp1 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(15687): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(15679): Show |
1 | a0007c0008t0012g0107 | 1 | HG02965.hp1 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(15684): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(12600): Show |
1 | a0023c0036t0016g0072 | 1 | NA18522.hp1 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(12605): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(1534): Show |
1 | a0009c0009t0026g0117 | 1 | HG02145.hp1 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(1539): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(1534): Show |
1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(1539): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(1534): Show |
1 | a0009c0009t0007g0077 | 1 | HG02602.hp2 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(1539): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989566 | C | CTTTTCCA others(7838): Show |
1 | a0004c0039t0007g0076 | 1 | HG03486.hp1 | splice_region_variant&intron_variant | LOW | c.3399-5_3399-4insTC others(7843): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 30/36 | INFO_REALIGN_3_PRIME | chr1 | 146989566 | ||||||
chr1:146989882 | G | GTGAAACT others(1533): Show |
16 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(13): Show |
16 | HG01081.hp2 HG01099.hp1 HG01261.hp1 others(13): Show |
intron_variant | MODIFIER | c.3571+211_3571+212i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989882 | ||||||
chr1:146989882 | G | GTGAAACT others(3073): Show |
1 | a0015c0034t0005g0022 | 1 | HG01928.hp2 | intron_variant | MODIFIER | c.3571+211_3571+212i others(3082): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989882 | ||||||
chr1:146989882 | G | GTGAAACT others(1533): Show |
5 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 others(2): Show |
5 | HG01109.hp2 HG01978.hp1 HG02129.hp2 others(2): Show |
intron_variant | MODIFIER | c.3571+211_3571+212i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989882 | ||||||
chr1:146989882 | G | GTGAAACT others(1533): Show |
1 | a0002c0031t0003g0031 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3571+211_3571+212i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989882 | ||||||
chr1:146989882 | G | GTGAAACT others(1533): Show |
1 | a0021c0016t0022g0102 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.3571+292_3571+293i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146989882 | ||||||
chr1:146989917 | G | A | 3 | a0001c0001t0008g0091 a0001c0001t0008g0104 a0001c0001t0008g0115 |
3 | HG02451.hp2 HG02895.hp1 HG02896.hp1 |
intron_variant | MODIFIER | c.3571+171G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146989917 | |||||||
chr1:146989958 | C | A | 7 | a0002c0002t0003g0015 a0002c0002t0003g0030 a0002c0002t0003g0032 others(4): Show |
7 | HG01358.hp2 HG01943.hp1 HG01978.hp2 others(4): Show |
intron_variant | MODIFIER | c.3571+212C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146989958 | |||||||
chr1:146990039 | G | C | 66 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(63): Show |
67 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(64): Show |
intron_variant | MODIFIER | c.3571+293G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146990039 | |||||||
chr1:146990176 | C | T | 4 | a0002c0002t0003g0030 a0002c0010t0003g0008 a0002c0010t0003g0009 others(1): Show |
4 | HG01358.hp2 NA18906.hp2 NA18939.hp1 others(1): Show |
intron_variant | MODIFIER | c.3572-290C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146990176 | |||||||
chr1:146990222 | A | ACTTGGGA others(1533): Show |
1 | a0003c0004t0001g0042 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3572-153_3572-152i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | INFO_REALIGN_3_PRIME | chr1 | 146990222 | ||||||
chr1:146990230 | G | C | 21 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 others(18): Show |
22 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(19): Show |
intron_variant | MODIFIER | c.3572-236G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146990230 | |||||||
chr1:146990257 | A | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.3572-209A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146990257 | |||||||
chr1:146990314 | C | A | 99 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(96): Show |
100 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(97): Show |
intron_variant | MODIFIER | c.3572-152C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 31/36 | chr1 | 146990314 | |||||||
chr1:146990528 | G | GCAATTAT others(1533): Show |
4 | a0002c0002t0003g0030 a0002c0010t0003g0008 a0002c0010t0003g0009 others(1): Show |
4 | HG01358.hp2 NA18906.hp2 NA18939.hp1 others(1): Show |
intron_variant | MODIFIER | c.3623+67_3623+68ins others(1540): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990528 | ||||||
chr1:146990585 | G | C | 81 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(78): Show |
82 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(79): Show |
intron_variant | MODIFIER | c.3623+68G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990585 | |||||||
chr1:146990612 | C | A | 33 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(30): Show |
33 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(30): Show |
intron_variant | MODIFIER | c.3623+95C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990612 | |||||||
chr1:146990612 | C | CACGAAGG others(1533): Show |
1 | a0002c0002t0003g0015 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3623+104_3623+105i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990612 | ||||||
chr1:146990612 | C | CACGAAGG others(1533): Show |
2 | a0002c0002t0003g0032 a0002c0002t0024g0016 |
2 | HG01943.hp1 HG01978.hp2 |
intron_variant | MODIFIER | c.3623+104_3623+105i others(1542): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990612 | ||||||
chr1:146990622 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3623+105G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990622 | |||||||
chr1:146990632 | T | C | 34 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(31): Show |
35 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(32): Show |
intron_variant | MODIFIER | c.3623+115T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990632 | |||||||
chr1:146990637 | C | A | 35 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(32): Show |
36 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(33): Show |
intron_variant | MODIFIER | c.3623+120C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990637 | |||||||
chr1:146990641 | T | G | 1 | a0004c0003t0027g0066 | 1 | HG01261.hp2 | intron_variant | MODIFIER | c.3623+124T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990641 | |||||||
chr1:146990658 | G | A | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(24): Show |
intron_variant | MODIFIER | c.3623+141G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990658 | |||||||
chr1:146990695 | G | A | 35 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(32): Show |
36 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(33): Show |
intron_variant | MODIFIER | c.3623+178G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990695 | |||||||
chr1:146990793 | G | C | 4 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 others(1): Show |
4 | HG02145.hp2 HG02647.hp1 HG03453.hp2 others(1): Show |
intron_variant | MODIFIER | c.3623+276G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990793 | |||||||
chr1:146990802 | A | T | 1 | a0002c0002t0003g0030 | 1 | HG01358.hp2 | intron_variant | MODIFIER | c.3623+285A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990802 | |||||||
chr1:146990812 | G | A | 47 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(44): Show |
47 | HG00673.hp2 HG01071.hp2 HG01081.hp2 others(44): Show |
intron_variant | MODIFIER | c.3623+295G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990812 | |||||||
chr1:146990821 | C | G | 6 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(3): Show |
6 | HG02258.hp1 HG02922.hp2 HG03130.hp1 others(3): Show |
intron_variant | MODIFIER | c.3624-292C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990821 | |||||||
chr1:146990835 | A | C | 37 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(34): Show |
38 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(35): Show |
intron_variant | MODIFIER | c.3624-278A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990835 | |||||||
chr1:146990852 | A | C | 101 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(98): Show |
102 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(99): Show |
intron_variant | MODIFIER | c.3624-261A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990852 | |||||||
chr1:146990855 | C | T | 26 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(23): Show |
26 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(23): Show |
intron_variant | MODIFIER | c.3624-258C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990855 | |||||||
chr1:146990874 | G | A | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3624-239G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990874 | |||||||
chr1:146990899 | CCT | C | 2 | a0002c0002t0003g0011 a0002c0002t0003g0012 |
2 | NA19010.hp2 NA19070.hp2 |
intron_variant | MODIFIER | c.3624-200_3624-199d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990899 | ||||||
chr1:146990926 | C | CT | 36 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(33): Show |
37 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.3624-185dupT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6294): Show |
1 | a0002c0031t0003g0031 | 1 | HG02129.hp1 | intron_variant | MODIFIER | c.3624-185_3624-184i others(6303): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6296): Show |
1 | a0002c0002t0003g0015 | 1 | HG01981.hp2 | intron_variant | MODIFIER | c.3624-185_3624-184i others(6305): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
1 | a0002c0002t0003g0014 | 1 | NA18970.hp1 | intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
1 | a0002c0005t0005g0019 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
5 | a0002c0005t0005g0005 a0002c0005t0005g0017 a0002c0005t0005g0018 others(2): Show |
5 | HG01261.hp1 HG01358.hp1 HG01981.hp1 others(2): Show |
intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
4 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0032 others(1): Show |
4 | HG01943.hp1 HG01978.hp2 NA19002.hp1 others(1): Show |
intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
3 | a0002c0002t0003g0024 a0002c0002t0003g0025 a0002c0002t0003g0026 |
3 | HG01109.hp2 HG01978.hp1 HG04204.hp1 |
intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
2 | a0002c0002t0013g0006 a0002c0002t0013g0007 |
2 | HG02602.hp1 HG03239.hp2 |
intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6286): Show |
1 | a0002c0032t0003g0004 | 1 | HG01099.hp1 | intron_variant | MODIFIER | c.3624-185_3624-184i others(6295): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990926 | C | CTTTCTCT others(6298): Show |
1 | a0002c0002t0003g0027 | 1 | HG02129.hp2 | intron_variant | MODIFIER | c.3624-185_3624-184i others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr1 | 146990926 | ||||||
chr1:146990936 | A | G | 4 | a0018c0035t0010g0074 a0020c0041t0020g0078 a0022c0037t0010g0073 others(1): Show |
4 | HG02647.hp2 HG03139.hp2 HG06807.hp2 others(1): Show |
intron_variant | MODIFIER | c.3624-177A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990936 | |||||||
chr1:146990941 | T | G | 1 | a0001c0001t0002g0082 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.3624-172T>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990941 | |||||||
chr1:146990980 | A | AATTCATT others(4752): Show |
1 | a0003c0027t0001g0034 | 1 | HG03453.hp1 | intron_variant | MODIFIER | c.3796+57_3796+58ins others(4759): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr1 | 146990980 | ||||||
chr1:146990980 | A | AATTCATT others(6292): Show |
1 | a0003c0004t0001g0044 | 1 | HG03579.hp1 | intron_variant | MODIFIER | c.3796+57_3796+58ins others(6299): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr1 | 146990980 | ||||||
chr1:146990980 | A | AATTCATT others(17346): Show |
1 | a0003c0004t0025g0055 | 1 | HG01071.hp2 | intron_variant | MODIFIER | c.3796+57_3796+58ins others(17353): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr1 | 146990980 | ||||||
chr1:146990980 | A | AATTCATT others(9509): Show |
1 | a0003c0004t0001g0042 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3796+57_3796+58ins others(9516): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr1 | 146990980 | ||||||
chr1:146990980 | A | G | 17 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(14): Show |
17 | HG00639.hp1 HG01099.hp2 HG01192.hp2 others(14): Show |
intron_variant | MODIFIER | c.3624-133A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990980 | |||||||
chr1:146990990 | C | T | 2 | a0017c0018t0018g0113 a0019c0017t0019g0112 |
2 | HG02258.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.3624-123C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990990 | |||||||
chr1:146990993 | A | G | 1 | a0020c0041t0020g0078 | 1 | HG03139.hp2 | intron_variant | MODIFIER | c.3624-120A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146990993 | |||||||
chr1:146991042 | T | C | 2 | a0007c0008t0012g0107 a0007c0008t0015g0106 |
2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.3624-71T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 32/36 | chr1 | 146991042 | |||||||
chr1:146991193 | G | GTTATCTT others(4751): Show |
1 | a0027c0029t0001g0038 | 1 | NA18968.hp2 | intron_variant | MODIFIER | c.3796+57_3796+58ins others(4758): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr1 | 146991193 | ||||||
chr1:146991343 | C | T | 72 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(69): Show |
73 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(70): Show |
intron_variant | MODIFIER | c.3796+58C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991343 | |||||||
chr1:146991440 | G | T | 4 | a0003c0004t0001g0044 a0003c0004t0001g0052 a0003c0004t0001g0054 others(1): Show |
4 | HG01346.hp1 HG02273.hp1 HG03239.hp1 others(1): Show |
intron_variant | MODIFIER | c.3796+155G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991440 | |||||||
chr1:146991670 | C | T | 1 | a0001c0014t0002g0093 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3797-325C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991670 | |||||||
chr1:146991678 | G | T | 1 | a0001c0014t0002g0093 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3797-317G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991678 | |||||||
chr1:146991679 | C | T | 1 | a0001c0014t0002g0093 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3797-316C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991679 | |||||||
chr1:146991782 | G | A | 2 | a0003c0004t0001g0050 a0003c0004t0001g0051 |
2 | HG00639.hp1 HG01192.hp2 |
intron_variant | MODIFIER | c.3797-213G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991782 | |||||||
chr1:146991877 | A | C | 1 | a0001c0014t0002g0093 | 1 | HG00673.hp1 | intron_variant | MODIFIER | c.3797-118A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991877 | |||||||
chr1:146991979 | C | T | 4 | a0001c0014t0002g0093 a0004c0039t0007g0076 a0009c0009t0007g0077 others(1): Show |
4 | HG00673.hp1 HG02145.hp1 HG02602.hp2 others(1): Show |
intron_variant | MODIFIER | c.3797-16C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 33/36 | chr1 | 146991979 | |||||||
chr1:146992112 | C | T | 39 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(36): Show |
40 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(37): Show |
intron_variant | MODIFIER | c.3848+66C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992112 | |||||||
chr1:146992122 | T | C | 1 | a0003c0023t0001g0049 | 1 | HG03239.hp1 | intron_variant | MODIFIER | c.3848+76T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992122 | |||||||
chr1:146992202 | C | T | 41 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(38): Show |
42 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(39): Show |
intron_variant | MODIFIER | c.3848+156C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992202 | |||||||
chr1:146992248 | C | T | 32 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(29): Show |
32 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(29): Show |
intron_variant | MODIFIER | c.3848+202C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992248 | |||||||
chr1:146992432 | C | A | 1 | a0003c0025t0001g0040 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3849-280C>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992432 | |||||||
chr1:146992433 | G | A | 1 | a0003c0025t0001g0040 | 1 | HG02698.hp2 | intron_variant | MODIFIER | c.3849-279G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992433 | |||||||
chr1:146992433 | G | GTT | 8 | a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 others(5): Show |
8 | HG00735.hp1 HG02056.hp1 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.3849-278_3849-277d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992433 | ||||||
chr1:146992434 | T | TTC | 4 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0004c0003t0004g0058 others(1): Show |
5 | HG01071.hp1 HG01255.hp1 HG01346.hp2 others(2): Show |
intron_variant | MODIFIER | c.3849-250_3849-249d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992434 | ||||||
chr1:146992434 | TTC | T | 2 | a0002c0002t0003g0010 a0002c0002t0013g0006 |
2 | HG02602.hp1 NA19085.hp2 |
intron_variant | MODIFIER | c.3849-250_3849-249d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992434 | ||||||
chr1:146992436 | C | T | 36 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(33): Show |
37 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(34): Show |
intron_variant | MODIFIER | c.3849-276C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992436 | |||||||
chr1:146992450 | CTCTCTCT others(7): Show |
C | 1 | a0003c0004t0001g0042 | 1 | HG00673.hp2 | intron_variant | MODIFIER | c.3849-260_3849-247d others(16): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992450 | ||||||
chr1:146992452 | C | T | 6 | a0003c0004t0001g0052 a0003c0004t0001g0054 a0003c0024t0001g0053 others(3): Show |
6 | HG01099.hp2 HG01346.hp1 HG02273.hp1 others(3): Show |
intron_variant | MODIFIER | c.3849-260C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992452 | |||||||
chr1:146992454 | C | T | 8 | a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 others(5): Show |
8 | HG00735.hp1 HG02056.hp1 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.3849-258C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992454 | |||||||
chr1:146992454 | CTCTCTCT others(11): Show |
C | 1 | a0003c0004t0001g0116 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.3849-256_3849-239d others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992454 | ||||||
chr1:146992456 | C | T | 26 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(23): Show |
27 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(24): Show |
intron_variant | MODIFIER | c.3849-256C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992456 | |||||||
chr1:146992456 | CTCTCTCT others(5): Show |
C | 1 | a0002c0002t0003g0025 | 1 | HG01978.hp1 | intron_variant | MODIFIER | c.3849-254_3849-243d others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992456 | ||||||
chr1:146992456 | CTCTCTCT others(15): Show |
C | 2 | a0011c0043t0009g0120 a0011c0044t0017g0119 |
2 | HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.3849-254_3849-233d others(24): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992456 | ||||||
chr1:146992458 | C | CTCAGTGT others(9): Show |
1 | a0005c0006t0006g0111 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3849-252_3849-251i others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992458 | ||||||
chr1:146992458 | C | T | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3849-254C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992458 | |||||||
chr1:146992458 | CTCTCTGT others(5): Show |
C | 1 | a0025c0020t0001g0043 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.3849-252_3849-241d others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992458 | ||||||
chr1:146992458 | CTCTCTGT others(15): Show |
C | 1 | a0016c0042t0009g0118 | 1 | HG02145.hp2 | intron_variant | MODIFIER | c.3849-252_3849-231d others(24): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992458 | ||||||
chr1:146992460 | C | CAGTGTGT others(11): Show |
1 | a0005c0006t0006g0110 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.3849-252_3849-251i others(20): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992460 | |||||||
chr1:146992460 | C | CTCTCTCA others(13): Show |
1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3849-249_3849-248i others(22): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTG | C | 17 | a0002c0002t0003g0012 a0002c0002t0003g0014 a0002c0002t0003g0015 others(14): Show |
17 | HG01109.hp2 HG01261.hp1 HG01358.hp1 others(14): Show |
intron_variant | MODIFIER | c.3849-250_3849-247d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTGTG | C | 3 | a0002c0010t0003g0008 a0003c0022t0001g0048 a0003c0025t0001g0040 |
3 | HG02698.hp2 HG04204.hp2 NA18950.hp1 |
intron_variant | MODIFIER | c.3849-250_3849-245d others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTGTGT others(1): Show |
C | 4 | a0002c0002t0003g0011 a0002c0010t0003g0009 a0002c0032t0003g0004 others(1): Show |
4 | HG01099.hp1 HG03579.hp1 NA18939.hp1 others(1): Show |
intron_variant | MODIFIER | c.3849-250_3849-243d others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTGTGT others(3): Show |
C | 1 | a0006c0007t0001g0045 | 1 | NA18522.hp2 | intron_variant | MODIFIER | c.3849-250_3849-241d others(12): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTGTGT others(5): Show |
C | 7 | a0003c0004t0001g0033 a0003c0004t0001g0041 a0003c0004t0025g0055 others(4): Show |
7 | HG01071.hp2 HG02895.hp2 HG02896.hp2 others(4): Show |
intron_variant | MODIFIER | c.3849-250_3849-239d others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTGTGT others(9): Show |
C | 1 | a0003c0004t0001g0036 | 1 | NA19085.hp1 | intron_variant | MODIFIER | c.3849-250_3849-235d others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992460 | CTCTGTGT others(15): Show |
C | 1 | a0002c0005t0005g0019 | 1 | HG01081.hp2 | intron_variant | MODIFIER | c.3849-250_3849-229d others(24): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992460 | ||||||
chr1:146992461 | T | A | 4 | a0003c0004t0001g0052 a0003c0004t0001g0054 a0003c0024t0001g0053 others(1): Show |
4 | HG01099.hp2 HG01346.hp1 HG02273.hp1 others(1): Show |
intron_variant | MODIFIER | c.3849-251T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992461 | |||||||
chr1:146992462 | C | CTCAG | 23 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(20): Show |
24 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(21): Show |
intron_variant | MODIFIER | c.3849-249_3849-248i others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | C | CTCAGTGT others(5): Show |
1 | a0005c0006t0006g0114 | 1 | HG03486.hp2 | intron_variant | MODIFIER | c.3849-249_3849-248i others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | C | CTCAGTGT others(4774): Show |
1 | a0001c0001t0002g0098 | 1 | HG02293.hp2 | intron_variant | MODIFIER | c.3849-249_3849-248i others(4783): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | C | CTCTCTCT others(9): Show |
1 | a0018c0035t0010g0074 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.3849-249_3849-248i others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | C | CTCTCTCT others(9): Show |
1 | a0022c0037t0010g0073 | 1 | HG06807.hp2 | intron_variant | MODIFIER | c.3849-249_3849-248i others(18): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | C | G | 7 | a0002c0002t0003g0003 a0003c0004t0001g0052 a0003c0004t0001g0054 others(4): Show |
7 | HG01099.hp2 HG01346.hp1 HG02273.hp1 others(4): Show |
intron_variant | MODIFIER | c.3849-250C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992462 | |||||||
chr1:146992462 | C | T | 1 | a0005c0006t0006g0111 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3849-250C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992462 | |||||||
chr1:146992462 | CTG | C | 2 | a0004c0003t0004g0067 a0009c0009t0026g0117 |
2 | HG02145.hp1 NA20805.hp2 |
intron_variant | MODIFIER | c.3849-200_3849-199d others(4): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | CTGTG | C | 7 | a0004c0003t0004g0059 a0004c0003t0004g0064 a0004c0003t0004g0068 others(4): Show |
7 | HG01109.hp1 HG02258.hp2 HG02451.hp1 others(4): Show |
intron_variant | MODIFIER | c.3849-202_3849-199d others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | CTGTGTGT others(1): Show |
C | 3 | a0002c0002t0003g0013 a0003c0004t0001g0079 a0003c0021t0001g0047 |
3 | HG02698.hp1 HG03704.hp1 NA18949.hp1 |
intron_variant | MODIFIER | c.3849-206_3849-199d others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992462 | CTGTGTGT others(3): Show |
C | 4 | a0003c0004t0001g0050 a0003c0004t0001g0051 a0027c0029t0001g0038 others(1): Show |
4 | HG00639.hp1 HG01192.hp2 NA18968.hp2 others(1): Show |
intron_variant | MODIFIER | c.3849-208_3849-199d others(12): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992462 | ||||||
chr1:146992463 | T | A | 8 | a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 others(5): Show |
8 | HG00735.hp1 HG02056.hp1 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.3849-249T>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992463 | |||||||
chr1:146992463 | T | TCAGTGTG others(3): Show |
1 | a0019c0017t0019g0112 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3849-249_3849-248i others(12): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992463 | |||||||
chr1:146992464 | G | C | 3 | a0004c0003t0027g0066 a0020c0041t0020g0078 a0023c0036t0016g0072 |
3 | HG01261.hp2 HG03139.hp2 NA18522.hp1 |
intron_variant | MODIFIER | c.3849-248G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992464 | |||||||
chr1:146992464 | G | T | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3849-248G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992464 | |||||||
chr1:146992466 | G | C | 3 | a0004c0003t0027g0066 a0009c0009t0026g0117 a0020c0041t0020g0078 |
3 | HG01261.hp2 HG02145.hp1 HG03139.hp2 |
intron_variant | MODIFIER | c.3849-246G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992466 | |||||||
chr1:146992466 | G | GTGCGTGT others(5): Show |
1 | a0005c0006t0014g0109 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.3849-244_3849-243i others(14): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992466 | ||||||
chr1:146992469 | T | C | 27 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(24): Show |
28 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(25): Show |
intron_variant | MODIFIER | c.3849-243T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992469 | |||||||
chr1:146992470 | G | C | 1 | a0019c0017t0019g0112 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3849-242G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992470 | |||||||
chr1:146992471 | T | C | 8 | a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 others(5): Show |
8 | HG00735.hp1 HG02056.hp1 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.3849-241T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992471 | |||||||
chr1:146992472 | G | T | 2 | a0005c0006t0006g0110 a0019c0017t0019g0112 |
2 | HG02922.hp2 HG03139.hp1 |
intron_variant | MODIFIER | c.3849-240G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992472 | |||||||
chr1:146992474 | G | GTCTT | 2 | a0001c0001t0008g0091 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3849-237_3849-236i others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992474 | ||||||
chr1:146992474 | G | T | 1 | a0005c0006t0006g0111 | 1 | HG03130.hp1 | intron_variant | MODIFIER | c.3849-238G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992474 | |||||||
chr1:146992476 | G | C | 25 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(22): Show |
26 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(23): Show |
intron_variant | MODIFIER | c.3849-236G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992476 | |||||||
chr1:146992476 | G | GTCTT | 8 | a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 others(5): Show |
8 | HG00735.hp1 HG02056.hp1 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.3849-235_3849-234i others(6): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992476 | ||||||
chr1:146992476 | G | T | 1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.3849-236G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992476 | |||||||
chr1:146992478 | G | T | 27 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(24): Show |
28 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(25): Show |
intron_variant | MODIFIER | c.3849-234G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992478 | |||||||
chr1:146992484 | G | T | 1 | a0019c0017t0019g0112 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.3849-228G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992484 | |||||||
chr1:146992486 | G | T | 2 | a0001c0001t0008g0091 a0014c0038t0007g0075 |
2 | HG01433.hp2 HG02451.hp2 |
intron_variant | MODIFIER | c.3849-226G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992486 | |||||||
chr1:146992488 | G | T | 8 | a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0100 others(5): Show |
8 | HG00735.hp1 HG02056.hp1 HG02293.hp1 others(5): Show |
intron_variant | MODIFIER | c.3849-224G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992488 | |||||||
chr1:146992490 | G | T | 25 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(22): Show |
26 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(23): Show |
intron_variant | MODIFIER | c.3849-222G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992490 | |||||||
chr1:146992514 | C | G | 41 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(38): Show |
42 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(39): Show |
intron_variant | MODIFIER | c.3849-198C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992514 | |||||||
chr1:146992516 | A | G | 41 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(38): Show |
42 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(39): Show |
intron_variant | MODIFIER | c.3849-196A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992516 | |||||||
chr1:146992611 | CT | C | 34 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(31): Show |
35 | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(32): Show |
intron_variant | MODIFIER | c.3849-94delT | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992611 | ||||||
chr1:146992612 | T | TTTTTTAA others(6300): Show |
1 | a0014c0038t0007g0075 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.3849-95_3849-94ins others(6307): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992612 | ||||||
chr1:146992612 | T | TTTTTTAA others(4751): Show |
2 | a0003c0004t0001g0052 a0003c0004t0001g0054 |
2 | HG01346.hp1 HG02273.hp1 |
intron_variant | MODIFIER | c.3849-95_3849-94ins others(4758): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | INFO_REALIGN_3_PRIME | chr1 | 146992612 | ||||||
chr1:146992707 | T | C | 1 | a0006c0007t0001g0045 | 1 | NA18522.hp2 | splice_region_variant&intron_variant | LOW | c.3849-5T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 34/36 | chr1 | 146992707 | |||||||
chr1:146992892 | C | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
splice_region_variant&intron_variant | LOW | c.4021+8C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146992892 | |||||||
chr1:146992937 | G | A | 28 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(25): Show |
28 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(25): Show |
intron_variant | MODIFIER | c.4021+53G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146992937 | |||||||
chr1:146992988 | C | T | 3 | a0005c0006t0006g0110 a0005c0006t0006g0114 a0005c0006t0014g0109 |
3 | HG02922.hp2 HG03486.hp2 HG03579.hp2 |
intron_variant | MODIFIER | c.4021+104C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146992988 | |||||||
chr1:146993047 | C | T | 6 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(3): Show |
6 | HG00673.hp2 HG01071.hp2 NA18947.hp2 others(3): Show |
intron_variant | MODIFIER | c.4021+163C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993047 | |||||||
chr1:146993116 | T | C | 2 | a0007c0008t0012g0107 a0007c0008t0015g0106 |
2 | HG02965.hp1 HG03098.hp1 |
intron_variant | MODIFIER | c.4021+232T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993116 | |||||||
chr1:146993179 | G | A | 5 | a0003c0004t0001g0052 a0003c0004t0001g0054 a0003c0023t0001g0049 others(2): Show |
5 | HG01346.hp1 HG02273.hp1 HG02965.hp1 others(2): Show |
intron_variant | MODIFIER | c.4021+295G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993179 | |||||||
chr1:146993333 | A | G | 1 | a0001c0001t0002g0082 | 1 | HG01081.hp1 | intron_variant | MODIFIER | c.4022-266A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993333 | |||||||
chr1:146993334 | A | T | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4022-265A>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993334 | |||||||
chr1:146993376 | A | G | 30 | a0002c0002t0003g0003 a0002c0002t0003g0010 a0002c0002t0003g0011 others(27): Show |
30 | HG01081.hp2 HG01099.hp1 HG01109.hp2 others(27): Show |
intron_variant | MODIFIER | c.4022-223A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993376 | |||||||
chr1:146993410 | G | C | 3 | a0004c0003t0004g0001 a0004c0003t0004g0057 a0004c0003t0004g0058 |
4 | HG01071.hp1 HG01255.hp1 HG01346.hp2 others(1): Show |
intron_variant | MODIFIER | c.4022-189G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993410 | |||||||
chr1:146993439 | C | G | 1 | a0002c0002t0003g0032 | 1 | HG01978.hp2 | intron_variant | MODIFIER | c.4022-160C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993439 | |||||||
chr1:146993445 | T | C | 100 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(97): Show |
101 | HG00280.hp2 HG00544.hp1 HG00609.hp1 others(98): Show |
intron_variant | MODIFIER | c.4022-154T>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993445 | |||||||
chr1:146993554 | G | T | 1 | a0025c0020t0001g0043 | 1 | NA18947.hp2 | intron_variant | MODIFIER | c.4022-45G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993554 | |||||||
chr1:146993567 | A | C | 22 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(19): Show |
22 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.4022-32A>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993567 | |||||||
chr1:146993570 | G | A | 22 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(19): Show |
22 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(19): Show |
intron_variant | MODIFIER | c.4022-29G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 35/36 | chr1 | 146993570 | |||||||
chr1:146993710 | A | G | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
splice_region_variant&intron_variant | LOW | c.4130+3A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993710 | |||||||
chr1:146993802 | A | G | 1 | a0026c0030t0003g0028 | 1 | NA18952.hp1 | intron_variant | MODIFIER | c.4130+95A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993802 | |||||||
chr1:146993881 | C | T | 30 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(27): Show |
31 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(28): Show |
intron_variant | MODIFIER | c.4130+174C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993881 | |||||||
chr1:146993892 | G | C | 64 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(61): Show |
65 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(62): Show |
intron_variant | MODIFIER | c.4130+185G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993892 | |||||||
chr1:146993895 | A | G | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.4130+188A>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993895 | |||||||
chr1:146993900 | C | T | 1 | a0001c0001t0008g0104 | 1 | HG02896.hp1 | intron_variant | MODIFIER | c.4130+193C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993900 | |||||||
chr1:146993939 | C | G | 3 | a0001c0001t0002g0080 a0001c0001t0002g0094 a0001c0001t0011g0002 |
4 | HG00609.hp1 HG01255.hp2 HG01433.hp1 others(1): Show |
intron_variant | MODIFIER | c.4130+232C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993939 | |||||||
chr1:146993948 | C | T | 1 | a0021c0016t0022g0102 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4130+241C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993948 | |||||||
chr1:146993949 | G | A | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4130+242G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146993949 | |||||||
chr1:146994046 | G | T | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.4131-286G>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994046 | |||||||
chr1:146994084 | C | G | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.4131-248C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994084 | |||||||
chr1:146994092 | C | CTCTCTG | 4 | a0001c0001t0008g0104 a0003c0004t0001g0041 a0008c0011t0004g0065 others(1): Show |
4 | HG00280.hp2 HG00639.hp2 HG02896.hp1 others(1): Show |
intron_variant | MODIFIER | c.4131-204_4131-199d others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | 146994092 | ||||||
chr1:146994092 | CTCTCTG | C | 7 | a0001c0001t0002g0087 a0002c0002t0003g0011 a0002c0002t0003g0012 others(4): Show |
7 | HG00544.hp1 HG01192.hp1 HG02145.hp1 others(4): Show |
intron_variant | MODIFIER | c.4131-204_4131-199d others(8): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | 146994092 | ||||||
chr1:146994104 | G | A | 3 | a0017c0018t0018g0113 a0019c0017t0019g0112 a0021c0016t0022g0102 |
3 | HG02258.hp1 HG03139.hp1 HG03704.hp2 |
intron_variant | MODIFIER | c.4131-228G>A | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994104 | |||||||
chr1:146994116 | G | C | 4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.4131-216G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994116 | |||||||
chr1:146994128 | G | C | 3 | a0011c0043t0009g0120 a0011c0044t0017g0119 a0016c0042t0009g0118 |
3 | HG02145.hp2 HG02647.hp1 HG03453.hp2 |
intron_variant | MODIFIER | c.4131-204G>C | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994128 | |||||||
chr1:146994128 | G | GTCTCTCT others(1): Show |
4 | a0005c0006t0006g0110 a0005c0006t0006g0111 a0005c0006t0006g0114 others(1): Show |
4 | HG02922.hp2 HG03130.hp1 HG03486.hp2 others(1): Show |
intron_variant | MODIFIER | c.4131-198_4131-191d others(10): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | 146994128 | ||||||
chr1:146994128 | G | GTCTCTCT others(4779): Show |
1 | a0017c0018t0018g0113 | 1 | HG02258.hp1 | intron_variant | MODIFIER | c.4131-75_4131-74ins others(4786): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | 146994128 | ||||||
chr1:146994128 | G | GTCTTTCT others(6296): Show |
1 | a0019c0017t0019g0112 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.4131-201_4131-200i others(6305): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | 146994128 | ||||||
chr1:146994138 | C | T | 1 | a0002c0005t0005g0020 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.4131-194C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994138 | |||||||
chr1:146994173 | C | CTGTTCTA others(4758): Show |
1 | a0021c0016t0022g0102 | 1 | HG03704.hp2 | intron_variant | MODIFIER | c.4131-75_4131-74ins others(4765): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | 146994173 | ||||||
chr1:146994173 | C | T | 1 | a0013c0015t0021g0103 | 1 | HG00735.hp1 | intron_variant | MODIFIER | c.4131-159C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994173 | |||||||
chr1:146994238 | C | G | 25 | a0003c0004t0001g0033 a0003c0004t0001g0036 a0003c0004t0001g0041 others(22): Show |
25 | HG00639.hp1 HG00673.hp2 HG01071.hp2 others(22): Show |
intron_variant | MODIFIER | c.4131-94C>G | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994238 | |||||||
chr1:146994292 | C | T | 67 | a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 others(64): Show |
68 | HG00544.hp1 HG00544.hp2 HG00609.hp1 others(65): Show |
intron_variant | MODIFIER | c.4131-40C>T | NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | chr1 | 146994292 |