Item | Value |
---|---|
geneid | 653333 |
ensemblid | ENSG00000145002.13 |
hgncid | 32222 |
symbol | FAM86B2 |
name | family with sequence similarity 86 member B2 |
refseq_nuc | NM_001137610.3 |
refseq_prot | NP_001131082.1 |
ensembl_nuc | ENST00000262365.9 |
ensembl_prot | ENSP00000262365.4 |
mane_status | MANE Select |
chr | chr8 |
start | 12424421 |
end | 12436400 |
strand | - |
ver | v1.2 |
region | chr8:12424421-12436400 |
region5000 | chr8:12419421-12441400 |
regionname0 | FAM86B2_chr8_12424421_12436400 |
regionname5000 | FAM86B2_chr8_12419421_12441400 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 330 | 12 | 1 | 0 | 10 | 0 | 1 | 8 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0002 | 0/0 | 330 | 8 | 5 | 1 | 1 | 0 | 1 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0003 | 0/0 | 330 | 5 | 0 | 3 | 0 | 1 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0004 | 0/0 | 330 | 5 | 5 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0005 | 0/0 | 330 | 3 | 3 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0006 | 0/0 | 71 | 3 | 1 | 0 | 1 | 0 | 1 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MTPEE others(66): Show |
chr8 | 12419421 | 12441400 |
a0007 | 0/0 | 330 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0008 | 0/0 | 330 | 2 | 0 | 1 | 0 | 0 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0009 | 0/0 | 224 | 2 | 2 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(219): Show |
chr8 | 12419421 | 12441400 |
a0010 | 0/0 | 330 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0011 | 0/0 | 330 | 1 | 0 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0012 | 0/0 | 224 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(219): Show |
chr8 | 12419421 | 12441400 |
a0013 | 0/0 | 330 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0014 | 0/0 | 330 | 1 | 0 | 0 | 0 | 0 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0015 | 0/0 | 330 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0016 | 0/0 | 330 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
a0017 | 0/0 | 330 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | MAPEE others(325): Show |
chr8 | 12419421 | 12441400 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 990 | 10 | 0 | 0 | 10 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0001c0011 | 0/0 | 990 | 2 | 1 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0002c0002 | 0/0 | 990 | 6 | 5 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0002c0007 | 0/0 | 990 | 2 | 0 | 1 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0003c0005 | 0/0 | 990 | 3 | 0 | 3 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0003c0010 | 0/0 | 990 | 2 | 0 | 0 | 0 | 1 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0004c0004 | 0/0 | 990 | 3 | 3 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0004c0019 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0004c0020 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0005c0003 | 0/0 | 990 | 3 | 3 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0006c0006 | 0/0 | 990 | 2 | 0 | 0 | 1 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGAC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0006c0012 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGAC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0007c0023 | 0/0 | 990 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0007c0024 | 0/0 | 990 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0008c0009 | 0/0 | 990 | 2 | 0 | 1 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0009c0008 | 0/0 | 990 | 2 | 2 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0010c0016 | 0/0 | 990 | 1 | 0 | 0 | 0 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0011c0022 | 0/0 | 990 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0012c0013 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0013c0018 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0014c0015 | 0/0 | 990 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0015c0021 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0016c0014 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 | ||
a0017c0017 | 0/0 | 990 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | ATGGC others(985): Show |
chr8 | 12419421 | 12441400 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 2518 | 8 | 0 | 0 | 8 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0001c0001t0006 | 0/0 | 2518 | 2 | 0 | 0 | 2 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0001c0011t0001 | 0/0 | 2518 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0001c0011t0020 | 0/0 | 2466 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2461): Show |
chr8 | 12419421 | 12441400 |
a0002c0002t0002 | 0/0 | 2550 | 3 | 2 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0002c0002t0004 | 0/0 | 2550 | 3 | 3 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0002c0007t0002 | 0/0 | 2550 | 2 | 0 | 1 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0003c0005t0001 | 0/0 | 2518 | 2 | 0 | 2 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0003c0005t0006 | 0/0 | 2518 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0003c0010t0010 | 0/0 | 2518 | 2 | 0 | 0 | 0 | 1 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0004c0004t0009 | 0/0 | 2550 | 2 | 2 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0004c0004t0017 | 0/0 | 2550 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0004c0019t0007 | 0/0 | 2550 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0004c0020t0019 | 0/0 | 2550 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0005c0003t0005 | 0/0 | 2518 | 3 | 3 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0006c0006t0008 | 0/0 | 2517 | 2 | 0 | 0 | 1 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AATCC others(2512): Show |
chr8 | 12419421 | 12441400 |
a0006c0012t0011 | 0/0 | 2517 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AATCC others(2512): Show |
chr8 | 12419421 | 12441400 |
a0007c0023t0007 | 0/0 | 2550 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0007c0024t0007 | 0/0 | 2550 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0008c0009t0003 | 0/0 | 2550 | 2 | 0 | 1 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0009c0008t0012 | 0/0 | 2518 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0009c0008t0013 | 0/0 | 2518 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0010c0016t0003 | 0/0 | 2550 | 1 | 0 | 0 | 0 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0011c0022t0018 | 0/0 | 2447 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2442): Show |
chr8 | 12419421 | 12441400 |
a0012c0013t0014 | 0/0 | 2517 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2512): Show |
chr8 | 12419421 | 12441400 |
a0013c0018t0002 | 0/0 | 2550 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0014c0015t0015 | 0/0 | 2551 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2546): Show |
chr8 | 12419421 | 12441400 |
a0015c0021t0016 | 0/0 | 2518 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2513): Show |
chr8 | 12419421 | 12441400 |
a0016c0014t0002 | 0/0 | 2550 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
a0017c0017t0003 | 0/0 | 2550 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | AGTCC others(2545): Show |
chr8 | 12419421 | 12441400 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0034 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0035 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0036 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0037 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0038 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0039 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0040 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0001g0046 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0006g0016 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0001t0006g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0011t0001g0041 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0001c0011t0020g0045 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0002t0002g0022 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0002t0002g0027 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0002t0002g0028 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0002t0004g0002 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0002t0004g0030 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0007t0002g0024 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0002c0007t0002g0025 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0003c0005t0001g0042 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0003c0005t0001g0043 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0003c0005t0006g0015 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0003c0010t0010g0033 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0003c0010t0010g0044 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0004c0004t0009g0004 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0004c0004t0017g0032 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0004c0019t0007g0020 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0004c0020t0019g0013 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0005c0003t0005g0003 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0005c0003t0005g0031 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0006c0006t0008g0001 | 0/0 | 2 | 0 | 0 | 1 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0006c0012t0011g0005 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0007c0023t0007g0019 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0007c0024t0007g0014 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0008c0009t0003g0006 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0008c0009t0003g0010 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0009c0008t0012g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0009c0008t0013g0008 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0010c0016t0003g0011 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0011c0022t0018g0017 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0012c0013t0014g0012 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0013c0018t0002g0026 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0014c0015t0015g0023 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0015c0021t0016g0021 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0016c0014t0002g0029 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
a0017c0017t0003g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG00323 | hp1 | a0003 | c0010 | t0010 | g0033 | EUR | FIN | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG00323 | hp2 | a0010 | c0016 | t0003 | g0011 | EUR | FIN | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01255 | hp1 | a0003 | c0005 | t0006 | g0015 | AMR | CLM | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01255 | hp2 | a0003 | c0005 | t0001 | g0043 | AMR | CLM | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01433 | hp1 | a0011 | c0022 | t0018 | g0017 | AMR | CLM | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01433 | hp2 | a0007 | c0023 | t0007 | g0019 | AMR | CLM | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01496 | hp1 | a0008 | c0009 | t0003 | g0010 | AMR | CLM | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01496 | hp2 | a0003 | c0005 | t0001 | g0042 | AMR | CLM | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01884 | hp1 | a0012 | c0013 | t0014 | g0012 | AFR | ACB | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01884 | hp2 | a0009 | c0008 | t0013 | g0008 | AFR | ACB | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01934 | hp1 | a0007 | c0024 | t0007 | g0014 | AMR | PEL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG01934 | hp2 | a0002 | c0007 | t0002 | g0025 | AMR | PEL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02165 | hp1 | a0001 | c0001 | t0001 | g0039 | EAS | CDX | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02165 | hp2 | a0001 | c0001 | t0001 | g0046 | EAS | CDX | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02257 | hp1 | a0001 | c0011 | t0020 | g0045 | AFR | ACB | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02257 | hp2 | a0002 | c0002 | t0002 | g0028 | AFR | ACB | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02572 | hp1 | a0009 | c0008 | t0012 | g0009 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02572 | hp2 | a0004 | c0004 | t0009 | g0004 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02647 | hp1 | a0005 | c0003 | t0005 | g0003 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02647 | hp2 | a0013 | c0018 | t0002 | g0026 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02698 | hp1 | a0008 | c0009 | t0003 | g0006 | SAS | PJL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02698 | hp2 | a0002 | c0007 | t0002 | g0024 | SAS | PJL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02717 | hp1 | a0005 | c0003 | t0005 | g0031 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02717 | hp2 | a0004 | c0004 | t0009 | g0004 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02738 | hp1 | a0001 | c0011 | t0001 | g0041 | SAS | PJL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02738 | hp2 | a0014 | c0015 | t0015 | g0023 | SAS | PJL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02895 | hp1 | a0004 | c0020 | t0019 | g0013 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02895 | hp2 | a0006 | c0012 | t0011 | g0005 | AFR | GWD | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02976 | hp1 | a0002 | c0002 | t0004 | g0002 | AFR | ESN | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG02976 | hp2 | a0004 | c0019 | t0007 | g0020 | AFR | ESN | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03195 | hp1 | a0004 | c0004 | t0017 | g0032 | AFR | ESN | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03195 | hp2 | a0002 | c0002 | t0004 | g0002 | AFR | ESN | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03490 | hp1 | a0006 | c0006 | t0008 | g0001 | SAS | PJL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03490 | hp2 | a0003 | c0010 | t0010 | g0044 | SAS | PJL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03579 | hp1 | a0005 | c0003 | t0005 | g0003 | AFR | MSL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03579 | hp2 | a0016 | c0014 | t0002 | g0029 | AFR | MSL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18522 | hp1 | a0017 | c0017 | t0003 | g0007 | AFR | YRI | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18522 | hp2 | a0002 | c0002 | t0002 | g0027 | AFR | YRI | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18950 | hp1 | a0006 | c0006 | t0008 | g0001 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18950 | hp2 | a0002 | c0002 | t0002 | g0022 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18979 | hp1 | a0001 | c0001 | t0001 | g0035 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18979 | hp2 | a0001 | c0001 | t0001 | g0034 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18986 | hp1 | a0001 | c0001 | t0001 | g0037 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18986 | hp2 | a0001 | c0001 | t0001 | g0038 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0036 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA18998 | hp2 | a0001 | c0001 | t0001 | g0040 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA19012 | hp1 | a0001 | c0001 | t0006 | g0018 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
NA19012 | hp2 | a0001 | c0001 | t0006 | g0016 | EAS | JPT | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03471 | hp1 | a0015 | c0021 | t0016 | g0021 | AFR | MSL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
HG03471 | hp2 | a0002 | c0002 | t0004 | g0030 | AFR | MSL | FAM86B2_chr8_12419421_12441400 | FAM86B2 | chr8 | 12419421 | 12441400 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12425914 | A | G | 2 | a0013 a0016 |
2 | HG02647.hp2 HG03579.hp2 |
missense_variant | MODERATE | c.968T>C | p.Met323Thr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1025/2518 | 968/993 | 323/330 | chr8 | 12425914 | |||
chr8:12425987 | G | A | 1 | a0017 | 1 | NA18522.hp1 | missense_variant&splice_region_variant | MODERATE | c.895C>T | p.Arg299Trp | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 952/2518 | 895/993 | 299/330 | chr8 | 12425987 | |||
chr8:12427693 | T | G | 6 | a0005 a0006 a0009 others(3): Show |
10 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(7): Show |
missense_variant | MODERATE | c.856A>C | p.Asn286His | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/8 | 913/2518 | 856/993 | 286/330 | chr8 | 12427693 | |||
chr8:12427696 | G | A | 1 | a0008 | 2 | HG01496.hp1 HG02698.hp1 |
missense_variant | MODERATE | c.853C>T | p.Arg285Cys | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/8 | 910/2518 | 853/993 | 285/330 | chr8 | 12427696 | |||
chr8:12427711 | C | T | 2 | a0009 a0012 |
3 | HG01884.hp1 HG01884.hp2 HG02572.hp1 |
missense_variant | MODERATE | c.838G>A | p.Val280Met | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/8 | 895/2518 | 838/993 | 280/330 | chr8 | 12427711 | |||
chr8:12427732 | T | G | 1 | a0014 | 1 | HG02738.hp2 | missense_variant | MODERATE | c.817A>C | p.Lys273Gln | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/8 | 874/2518 | 817/993 | 273/330 | chr8 | 12427732 | |||
chr8:12427741 | G | A | 1 | a0001 | 12 | HG02165.hp1 HG02165.hp2 HG02257.hp1 others(9): Show |
missense_variant | MODERATE | c.808C>T | p.Arg270Trp | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/8 | 865/2518 | 808/993 | 270/330 | chr8 | 12427741 | |||
chr8:12428645 | C | G | 3 | a0006 a0009 a0012 |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
missense_variant | MODERATE | c.730G>C | p.Val244Leu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 787/2518 | 730/993 | 244/330 | chr8 | 12428645 | |||
chr8:12428649 | A | T | 3 | a0008 a0010 a0017 |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
missense_variant | MODERATE | c.726T>A | p.Asp242Glu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 783/2518 | 726/993 | 242/330 | chr8 | 12428649 | |||
chr8:12428680 | A | G | 3 | a0006 a0009 a0012 |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
missense_variant | MODERATE | c.695T>C | p.Met232Thr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 752/2518 | 695/993 | 232/330 | chr8 | 12428680 | |||
chr8:12428702 | G | A | 3 | a0006 a0009 a0012 |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
stop_gained | HIGH | c.673C>T | p.Gln225* | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 730/2518 | 673/993 | 225/330 | chr8 | 12428702 | |||
chr8:12428722 | C | G | 3 | a0006 a0009 a0012 |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
missense_variant | MODERATE | c.653G>C | p.Ser218Thr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 710/2518 | 653/993 | 218/330 | chr8 | 12428722 | |||
chr8:12428792 | C | T | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.583G>A | p.Glu195Lys | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 640/2518 | 583/993 | 195/330 | chr8 | 12428792 | |||
chr8:12428798 | T | C | 14 | a0002 a0004 a0006 others(11): Show |
30 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(27): Show |
missense_variant | MODERATE | c.577A>G | p.Ile193Val | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 634/2518 | 577/993 | 193/330 | chr8 | 12428798 | |||
chr8:12428989 | G | C | 1 | a0007 | 2 | HG01433.hp2 HG01934.hp1 |
missense_variant | MODERATE | c.468C>G | p.Phe156Leu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/8 | 525/2518 | 468/993 | 156/330 | chr8 | 12428989 | |||
chr8:12430405 | A | G | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.287T>C | p.Leu96Pro | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/8 | 344/2518 | 287/993 | 96/330 | chr8 | 12430405 | |||
chr8:12430448 | C | T | 3 | a0002 a0014 a0016 |
10 | HG01934.hp2 HG02257.hp2 HG02698.hp2 others(7): Show |
missense_variant | MODERATE | c.244G>A | p.Glu82Lys | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/8 | 301/2518 | 244/993 | 82/330 | chr8 | 12430448 | |||
chr8:12432106 | G | T | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
stop_gained | HIGH | c.216C>A | p.Cys72* | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/8 | 273/2518 | 216/993 | 72/330 | chr8 | 12432106 | |||
chr8:12432107 | C | A | 1 | a0007 | 2 | HG01433.hp2 HG01934.hp1 |
missense_variant | MODERATE | c.215G>T | p.Cys72Phe | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/8 | 272/2518 | 215/993 | 72/330 | chr8 | 12432107 | |||
chr8:12432110 | C | G | 1 | a0012 | 1 | HG01884.hp1 | missense_variant | MODERATE | c.212G>C | p.Trp71Ser | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/8 | 269/2518 | 212/993 | 71/330 | chr8 | 12432110 | |||
chr8:12432128 | G | A | 1 | a0015 | 1 | HG03471.hp1 | missense_variant | MODERATE | c.194C>T | p.Pro65Leu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/8 | 251/2518 | 194/993 | 65/330 | chr8 | 12432128 | |||
chr8:12432155 | C | T | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.167G>A | p.Arg56Lys | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/8 | 224/2518 | 167/993 | 56/330 | chr8 | 12432155 | |||
chr8:12434084 | C | A | 4 | a0001 a0003 a0007 others(1): Show |
20 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(17): Show |
missense_variant | MODERATE | c.127G>T | p.Asp43Tyr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/8 | 184/2518 | 127/993 | 43/330 | chr8 | 12434084 | |||
chr8:12436276 | A | G | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.68T>C | p.Val23Ala | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 125/2518 | 68/993 | 23/330 | chr8 | 12436276 | |||
chr8:12436279 | G | A | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.65C>T | p.Ala22Val | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 122/2518 | 65/993 | 22/330 | chr8 | 12436279 | |||
chr8:12436292 | G | T | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.52C>A | p.Arg18Ser | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 109/2518 | 52/993 | 18/330 | chr8 | 12436292 | |||
chr8:12436316 | C | T | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.28G>A | p.Glu10Lys | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 85/2518 | 28/993 | 10/330 | chr8 | 12436316 | |||
chr8:12436340 | C | T | 1 | a0006 | 3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
missense_variant | MODERATE | c.4G>A | p.Ala2Thr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 61/2518 | 4/993 | 2/330 | chr8 | 12436340 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12425931 | A | G | 4 | a0006c0006 a0006c0012 a0009c0008 others(1): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
synonymous_variant | LOW | c.951T>C | p.Tyr317Tyr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1008/2518 | 951/993 | 317/330 | chr8 | 12425931 | |||
chr8:12425964 | C | T | 9 | a0004c0004 a0004c0019 a0004c0020 others(6): Show |
12 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(9): Show |
synonymous_variant | LOW | c.918G>A | p.Ala306Ala | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 975/2518 | 918/993 | 306/330 | chr8 | 12425964 | |||
chr8:12425985 | C | T | 1 | a0004c0019 | 1 | HG02976.hp2 | synonymous_variant | LOW | c.897G>A | p.Arg299Arg | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 954/2518 | 897/993 | 299/330 | chr8 | 12425985 | |||
chr8:12427682 | T | C | 19 | a0001c0011 a0002c0002 a0003c0010 others(16): Show |
31 | HG00323.hp1 HG00323.hp2 HG01433.hp1 others(28): Show |
synonymous_variant | LOW | c.867A>G | p.Thr289Thr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/8 | 924/2518 | 867/993 | 289/330 | chr8 | 12427682 | |||
chr8:12428682 | T | C | 4 | a0006c0006 a0006c0012 a0009c0008 others(1): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
synonymous_variant | LOW | c.693A>G | p.Ala231Ala | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 750/2518 | 693/993 | 231/330 | chr8 | 12428682 | |||
chr8:12428814 | G | A | 4 | a0006c0006 a0006c0012 a0009c0008 others(1): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
synonymous_variant | LOW | c.561C>T | p.Ser187Ser | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 618/2518 | 561/993 | 187/330 | chr8 | 12428814 | |||
chr8:12428859 | G | T | 1 | a0009c0008 | 2 | HG01884.hp2 HG02572.hp1 |
synonymous_variant | LOW | c.516C>A | p.Gly172Gly | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/8 | 573/2518 | 516/993 | 172/330 | chr8 | 12428859 | |||
chr8:12429034 | G | A | 3 | a0008c0009 a0010c0016 a0017c0017 |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
synonymous_variant | LOW | c.423C>T | p.Ala141Ala | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/8 | 480/2518 | 423/993 | 141/330 | chr8 | 12429034 | |||
chr8:12429037 | A | G | 4 | a0006c0006 a0006c0012 a0009c0008 others(1): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
synonymous_variant | LOW | c.420T>C | p.Asp140Asp | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/8 | 477/2518 | 420/993 | 140/330 | chr8 | 12429037 | |||
chr8:12429079 | T | A | 3 | a0008c0009 a0010c0016 a0017c0017 |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
synonymous_variant | LOW | c.378A>T | p.Thr126Thr | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/8 | 435/2518 | 378/993 | 126/330 | chr8 | 12429079 | |||
chr8:12429100 | T | C | 14 | a0004c0004 a0004c0019 a0004c0020 others(11): Show |
19 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(16): Show |
synonymous_variant | LOW | c.357A>G | p.Ser119Ser | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/8 | 414/2518 | 357/993 | 119/330 | chr8 | 12429100 | |||
chr8:12430383 | C | T | 1 | a0005c0003 | 3 | HG02647.hp1 HG02717.hp1 HG03579.hp1 |
synonymous_variant | LOW | c.309G>A | p.Lys103Lys | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/8 | 366/2518 | 309/993 | 103/330 | chr8 | 12430383 | |||
chr8:12430431 | C | T | 4 | a0008c0009 a0009c0008 a0010c0016 others(1): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
synonymous_variant | LOW | c.261G>A | p.Glu87Glu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/8 | 318/2518 | 261/993 | 87/330 | chr8 | 12430431 | |||
chr8:12434069 | G | T | 2 | a0006c0006 a0006c0012 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
synonymous_variant | LOW | c.142C>A | p.Arg48Arg | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/8 | 199/2518 | 142/993 | 48/330 | chr8 | 12434069 | |||
chr8:12434106 | C | T | 2 | a0006c0006 a0006c0012 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
synonymous_variant | LOW | c.105G>A | p.Glu35Glu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/8 | 162/2518 | 105/993 | 35/330 | chr8 | 12434106 | |||
chr8:12436281 | C | T | 2 | a0006c0006 a0006c0012 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
synonymous_variant | LOW | c.63G>A | p.Leu21Leu | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 120/2518 | 63/993 | 21/330 | chr8 | 12436281 | |||
chr8:12436320 | C | A | 2 | a0006c0006 a0006c0012 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
synonymous_variant | LOW | c.24G>T | p.Gly8Gly | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 81/2518 | 24/993 | 8/330 | chr8 | 12436320 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12424447 | T | C | 14 | a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 others(11): Show |
25 | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(22): Show |
3_prime_UTR_variant | MODIFIER | c.*1442A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1442 | chr8 | 12424447 | ||||||
chr8:12424475 | G | A | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1414C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1414 | chr8 | 12424475 | ||||||
chr8:12424492 | T | C | 1 | a0015c0021t0016 | 1 | HG03471.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1397A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1397 | chr8 | 12424492 | ||||||
chr8:12424584 | G | A | 14 | a0002c0002t0002 a0002c0002t0004 a0002c0007t0002 others(11): Show |
21 | HG01884.hp1 HG01884.hp2 HG01934.hp2 others(18): Show |
3_prime_UTR_variant | MODIFIER | c.*1305C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1305 | chr8 | 12424584 | ||||||
chr8:12424586 | C | T | 3 | a0008c0009t0003 a0010c0016t0003 a0017c0017t0003 |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*1303G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1303 | chr8 | 12424586 | ||||||
chr8:12424591 | G | A | 1 | a0002c0002t0004 | 3 | HG02976.hp1 HG03195.hp2 HG03471.hp2 |
3_prime_UTR_variant | MODIFIER | c.*1298C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1298 | chr8 | 12424591 | ||||||
chr8:12424627 | G | T | 6 | a0002c0002t0002 a0002c0002t0004 a0002c0007t0002 others(3): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
3_prime_UTR_variant | MODIFIER | c.*1262C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1262 | chr8 | 12424627 | ||||||
chr8:12424644 | G | C | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
3_prime_UTR_variant | MODIFIER | c.*1245C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1245 | chr8 | 12424644 | ||||||
chr8:12424673 | G | A | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1216C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1216 | chr8 | 12424673 | ||||||
chr8:12424683 | C | T | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1206G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1206 | chr8 | 12424683 | ||||||
chr8:12424721 | T | TGGGTTGT others(25): Show |
15 | a0002c0002t0002 a0002c0002t0004 a0002c0007t0002 others(12): Show |
22 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*1136_*1167dupCCCT others(28): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1167 | chr8 | 12424721 | ||||||
chr8:12424721 | T | TGGGTTGT others(26): Show |
1 | a0014c0015t0015 | 1 | HG02738.hp2 | 3_prime_UTR_variant | MODIFIER | c.*1167_*1168insCCCC others(29): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1167 | chr8 | 12424721 | ||||||
chr8:12424802 | G | T | 16 | a0002c0002t0002 a0002c0002t0004 a0002c0007t0002 others(13): Show |
23 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(20): Show |
3_prime_UTR_variant | MODIFIER | c.*1087C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1087 | chr8 | 12424802 | ||||||
chr8:12424806 | A | G | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1083T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1083 | chr8 | 12424806 | ||||||
chr8:12424865 | T | G | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*1024A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 1024 | chr8 | 12424865 | ||||||
chr8:12424919 | T | C | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*970A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 970 | chr8 | 12424919 | ||||||
chr8:12424922 | A | C | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*967T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 967 | chr8 | 12424922 | ||||||
chr8:12424932 | A | G | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*957T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 957 | chr8 | 12424932 | ||||||
chr8:12425064 | C | G | 1 | a0003c0010t0010 | 2 | HG00323.hp1 HG03490.hp2 |
3_prime_UTR_variant | MODIFIER | c.*825G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 825 | chr8 | 12425064 | ||||||
chr8:12425081 | C | T | 8 | a0006c0006t0008 a0006c0012t0011 a0008c0009t0003 others(5): Show |
10 | HG00323.hp2 HG01496.hp1 HG01884.hp1 others(7): Show |
3_prime_UTR_variant | MODIFIER | c.*808G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 808 | chr8 | 12425081 | ||||||
chr8:12425088 | C | T | 3 | a0008c0009t0003 a0010c0016t0003 a0017c0017t0003 |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*801G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 801 | chr8 | 12425088 | ||||||
chr8:12425096 | A | G | 1 | a0004c0004t0017 | 1 | HG03195.hp1 | 3_prime_UTR_variant | MODIFIER | c.*793T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 793 | chr8 | 12425096 | ||||||
chr8:12425128 | T | C | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*761A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 761 | chr8 | 12425128 | ||||||
chr8:12425180 | A | G | 3 | a0009c0008t0012 a0009c0008t0013 a0012c0013t0014 |
3 | HG01884.hp1 HG01884.hp2 HG02572.hp1 |
3_prime_UTR_variant | MODIFIER | c.*709T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 709 | chr8 | 12425180 | ||||||
chr8:12425216 | C | A | 1 | a0004c0020t0019 | 1 | HG02895.hp1 | 3_prime_UTR_variant | MODIFIER | c.*673G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 673 | chr8 | 12425216 | ||||||
chr8:12425315 | G | A | 4 | a0004c0019t0007 a0007c0023t0007 a0007c0024t0007 others(1): Show |
4 | HG01433.hp1 HG01433.hp2 HG01934.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*574C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 574 | chr8 | 12425315 | ||||||
chr8:12425370 | CCTGGGAT others(96): Show |
C | 1 | a0011c0022t0018 | 1 | HG01433.hp1 | 3_prime_UTR_variant | MODIFIER | c.*416_*518del | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 416 | chr8 | 12425370 | ||||||
chr8:12425372 | TGGGATGT others(45): Show |
T | 6 | a0004c0004t0009 a0004c0004t0017 a0004c0020t0019 others(3): Show |
8 | HG00323.hp2 HG01496.hp1 HG02572.hp2 others(5): Show |
3_prime_UTR_variant | MODIFIER | c.*465_*516delTGGACA others(46): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 465 | chr8 | 12425372 | ||||||
chr8:12425372 | TGGGATGT others(97): Show |
T | 9 | a0002c0002t0002 a0002c0002t0004 a0002c0007t0002 others(6): Show |
14 | HG01433.hp2 HG01934.hp1 HG01934.hp2 others(11): Show |
3_prime_UTR_variant | MODIFIER | c.*413_*516del | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 413 | chr8 | 12425372 | ||||||
chr8:12425377 | T | A | 1 | a0003c0005t0001 | 1 | HG01496.hp2 | 3_prime_UTR_variant | MODIFIER | c.*512A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 512 | chr8 | 12425377 | ||||||
chr8:12425461 | G | A | 4 | a0004c0020t0019 a0008c0009t0003 a0010c0016t0003 others(1): Show |
5 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(2): Show |
3_prime_UTR_variant | MODIFIER | c.*428C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 428 | chr8 | 12425461 | ||||||
chr8:12425465 | CGAGTGTG others(97): Show |
C | 1 | a0005c0003t0005 | 3 | HG02647.hp1 HG02717.hp1 HG03579.hp1 |
3_prime_UTR_variant | MODIFIER | c.*320_*423del | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 320 | chr8 | 12425465 | ||||||
chr8:12425475 | C | T | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*414G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 414 | chr8 | 12425475 | ||||||
chr8:12425476 | A | T | 1 | a0011c0022t0018 | 1 | HG01433.hp1 | 3_prime_UTR_variant | MODIFIER | c.*413T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 413 | chr8 | 12425476 | ||||||
chr8:12425495 | C | T | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*394G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 394 | chr8 | 12425495 | ||||||
chr8:12425510 | G | A | 1 | a0009c0008t0013 | 1 | HG01884.hp2 | 3_prime_UTR_variant | MODIFIER | c.*379C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 379 | chr8 | 12425510 | ||||||
chr8:12425517 | CGAGTGTG others(45): Show |
C | 1 | a0001c0011t0020 | 1 | HG02257.hp1 | 3_prime_UTR_variant | MODIFIER | c.*320_*371delAGTTCC others(46): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 320 | chr8 | 12425517 | ||||||
chr8:12425518 | G | A | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*371C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 371 | chr8 | 12425518 | ||||||
chr8:12425540 | G | A | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*349C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 349 | chr8 | 12425540 | ||||||
chr8:12425548 | G | A | 3 | a0008c0009t0003 a0010c0016t0003 a0017c0017t0003 |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
3_prime_UTR_variant | MODIFIER | c.*341C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 341 | chr8 | 12425548 | ||||||
chr8:12425560 | C | G | 7 | a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 others(4): Show |
17 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(14): Show |
3_prime_UTR_variant | MODIFIER | c.*329G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 329 | chr8 | 12425560 | ||||||
chr8:12425569 | T | C | 28 | a0001c0001t0001 a0001c0001t0006 a0001c0011t0001 others(25): Show |
46 | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(43): Show |
3_prime_UTR_variant | MODIFIER | c.*320A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 320 | chr8 | 12425569 | ||||||
chr8:12425596 | A | G | 2 | a0004c0004t0009 a0004c0004t0017 |
3 | HG02572.hp2 HG02717.hp2 HG03195.hp1 |
3_prime_UTR_variant | MODIFIER | c.*293T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 293 | chr8 | 12425596 | ||||||
chr8:12425635 | C | A | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
3_prime_UTR_variant | MODIFIER | c.*254G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 254 | chr8 | 12425635 | ||||||
chr8:12425648 | T | C | 15 | a0004c0004t0009 a0004c0004t0017 a0004c0019t0007 others(12): Show |
18 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*241A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 241 | chr8 | 12425648 | ||||||
chr8:12425683 | G | A | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*206C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 206 | chr8 | 12425683 | ||||||
chr8:12425772 | G | A | 15 | a0004c0004t0009 a0004c0004t0017 a0004c0019t0007 others(12): Show |
18 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(15): Show |
3_prime_UTR_variant | MODIFIER | c.*117C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 117 | chr8 | 12425772 | ||||||
chr8:12425778 | T | C | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*111A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 111 | chr8 | 12425778 | ||||||
chr8:12425843 | G | A | 1 | a0006c0012t0011 | 1 | HG02895.hp2 | 3_prime_UTR_variant | MODIFIER | c.*46C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 46 | chr8 | 12425843 | ||||||
chr8:12425869 | T | G | 5 | a0006c0006t0008 a0006c0012t0011 a0009c0008t0012 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
3_prime_UTR_variant | MODIFIER | c.*20A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 8/8 | 20 | chr8 | 12425869 | ||||||
chr8:12436344 | A | G | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_variant | MODIFIER | c.-1T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 1 | chr8 | 12436344 | ||||||
chr8:12436346 | C | T | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_variant | MODIFIER | c.-3G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 3 | chr8 | 12436346 | ||||||
chr8:12436354 | A | G | 3 | a0006c0006t0008 a0006c0012t0011 a0012c0013t0014 |
4 | HG01884.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-11T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 11 | chr8 | 12436354 | ||||||
chr8:12436362 | GC | G | 3 | a0006c0006t0008 a0006c0012t0011 a0012c0013t0014 |
4 | HG01884.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
5_prime_UTR_variant | MODIFIER | c.-20delG | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 20 | chr8 | 12436362 | ||||||
chr8:12436364 | C | A | 5 | a0001c0001t0001 a0001c0011t0001 a0001c0011t0020 others(2): Show |
14 | HG00323.hp1 HG01255.hp2 HG01496.hp2 others(11): Show |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-21G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | chr8 | 12436364 | |||||||
chr8:12436371 | G | A | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_premature_start_codon_gain_variant | LOW | c.-28C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | chr8 | 12436371 | |||||||
chr8:12436372 | G | T | 5 | a0008c0009t0003 a0009c0008t0012 a0009c0008t0013 others(2): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
5_prime_UTR_variant | MODIFIER | c.-29C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 29 | chr8 | 12436372 | ||||||
chr8:12436377 | C | T | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_variant | MODIFIER | c.-34G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 34 | chr8 | 12436377 | ||||||
chr8:12436379 | T | G | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_variant | MODIFIER | c.-36A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 36 | chr8 | 12436379 | ||||||
chr8:12436382 | A | C | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_variant | MODIFIER | c.-39T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 39 | chr8 | 12436382 | ||||||
chr8:12436399 | C | T | 2 | a0006c0006t0008 a0006c0012t0011 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
5_prime_UTR_variant | MODIFIER | c.-56G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/8 | 56 | chr8 | 12436399 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr8:12426040 | G | A | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.893-51C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426040 | |||||||
chr8:12426119 | G | C | 26 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(23): Show |
29 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(26): Show |
intron_variant | MODIFIER | c.893-130C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426119 | |||||||
chr8:12426123 | G | A | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.893-134C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426123 | |||||||
chr8:12426277 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-288G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426277 | |||||||
chr8:12426317 | G | T | 1 | a0004c0020t0019g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.893-328C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426317 | |||||||
chr8:12426376 | A | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-387T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426376 | |||||||
chr8:12426390 | T | G | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.893-401A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426390 | |||||||
chr8:12426422 | A | G | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.893-433T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426422 | |||||||
chr8:12426468 | C | CTT | 17 | a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 others(14): Show |
18 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(15): Show |
intron_variant | MODIFIER | c.893-481_893-480dup others(2): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426468 | |||||||
chr8:12426468 | C | CTTT | 7 | a0001c0001t0001g0035 a0001c0001t0001g0046 a0001c0001t0006g0016 others(4): Show |
7 | HG02165.hp2 HG02738.hp1 HG03579.hp2 others(4): Show |
intron_variant | MODIFIER | c.893-482_893-480dup others(3): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426468 | |||||||
chr8:12426468 | C | CTTTT | 4 | a0002c0002t0002g0022 a0002c0002t0004g0030 a0002c0007t0002g0025 others(1): Show |
4 | HG01934.hp2 HG02647.hp2 HG03471.hp2 others(1): Show |
intron_variant | MODIFIER | c.893-483_893-480dup others(4): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426468 | |||||||
chr8:12426468 | CTTT | C | 4 | a0004c0020t0019g0013 a0006c0012t0011g0005 a0009c0008t0012g0009 others(1): Show |
4 | HG01884.hp1 HG02572.hp1 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.893-482_893-480del others(3): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426468 | |||||||
chr8:12426468 | CTTTT | C | 9 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0019t0007g0020 others(6): Show |
10 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(7): Show |
intron_variant | MODIFIER | c.893-483_893-480del others(4): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426468 | |||||||
chr8:12426496 | CT | C | 3 | a0004c0019t0007g0020 a0007c0023t0007g0019 a0007c0024t0007g0014 |
3 | HG01433.hp2 HG01934.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.893-508delA | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426496 | |||||||
chr8:12426584 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-595T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426584 | |||||||
chr8:12426591 | G | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-602C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426591 | |||||||
chr8:12426602 | C | T | 1 | a0016c0014t0002g0029 | 1 | HG03579.hp2 | intron_variant | MODIFIER | c.893-613G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426602 | |||||||
chr8:12426685 | GT | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-697delA | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426685 | |||||||
chr8:12426690 | A | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-701T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426690 | |||||||
chr8:12426726 | C | T | 1 | a0010c0016t0003g0011 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.893-737G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426726 | |||||||
chr8:12426733 | T | A | 10 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.893-744A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426733 | |||||||
chr8:12426742 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-753A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426742 | |||||||
chr8:12426756 | G | A | 2 | a0004c0004t0009g0004 a0004c0004t0017g0032 |
3 | HG02572.hp2 HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.893-767C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426756 | |||||||
chr8:12426781 | C | T | 6 | a0001c0001t0001g0037 a0006c0006t0008g0001 a0006c0012t0011g0005 others(3): Show |
7 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.893-792G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426781 | |||||||
chr8:12426788 | G | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.893-799C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426788 | |||||||
chr8:12426791 | C | G | 3 | a0009c0008t0012g0009 a0009c0008t0013g0008 a0012c0013t0014g0012 |
3 | HG01884.hp1 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.893-802G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426791 | |||||||
chr8:12426813 | T | C | 6 | a0004c0020t0019g0013 a0006c0006t0008g0001 a0006c0012t0011g0005 others(3): Show |
7 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.893-824A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426813 | |||||||
chr8:12426845 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+812T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426845 | |||||||
chr8:12426878 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+779A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12426878 | |||||||
chr8:12427007 | G | T | 1 | a0004c0020t0019g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.892+650C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427007 | |||||||
chr8:12427118 | C | T | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.892+539G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427118 | |||||||
chr8:12427166 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.892+491T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427166 | |||||||
chr8:12427199 | A | C | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.892+458T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427199 | |||||||
chr8:12427238 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+419G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427238 | |||||||
chr8:12427275 | G | C | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.892+382C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427275 | |||||||
chr8:12427276 | T | A | 3 | a0009c0008t0012g0009 a0009c0008t0013g0008 a0012c0013t0014g0012 |
3 | HG01884.hp1 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.892+381A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427276 | |||||||
chr8:12427282 | C | A | 3 | a0001c0001t0001g0035 a0001c0001t0006g0016 a0001c0001t0006g0018 |
3 | NA18979.hp1 NA19012.hp1 NA19012.hp2 |
intron_variant | MODIFIER | c.892+375G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427282 | |||||||
chr8:12427283 | G | A | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.892+374C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427283 | |||||||
chr8:12427306 | G | A | 4 | a0006c0012t0011g0005 a0009c0008t0012g0009 a0009c0008t0013g0008 others(1): Show |
4 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(1): Show |
intron_variant | MODIFIER | c.892+351C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427306 | |||||||
chr8:12427315 | T | G | 10 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.892+342A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427315 | |||||||
chr8:12427342 | G | A | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.892+315C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427342 | |||||||
chr8:12427353 | T | C | 12 | a0001c0001t0001g0036 a0001c0011t0020g0045 a0004c0019t0007g0020 others(9): Show |
13 | HG01433.hp1 HG01433.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.892+304A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427353 | |||||||
chr8:12427384 | G | A | 10 | a0004c0019t0007g0020 a0006c0006t0008g0001 a0006c0012t0011g0005 others(7): Show |
11 | HG01433.hp1 HG01433.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.892+273C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427384 | |||||||
chr8:12427387 | G | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+270C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427387 | |||||||
chr8:12427390 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+267G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427390 | |||||||
chr8:12427391 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+266T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427391 | |||||||
chr8:12427422 | T | C | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.892+235A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427422 | |||||||
chr8:12427459 | C | A | 3 | a0004c0019t0007g0020 a0007c0023t0007g0019 a0007c0024t0007g0014 |
3 | HG01433.hp2 HG01934.hp1 HG02976.hp2 |
intron_variant | MODIFIER | c.892+198G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427459 | |||||||
chr8:12427466 | G | A | 13 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(10): Show |
15 | HG01496.hp1 HG01934.hp2 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.892+191C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427466 | |||||||
chr8:12427480 | T | G | 5 | a0003c0005t0001g0042 a0004c0019t0007g0020 a0007c0023t0007g0019 others(2): Show |
5 | HG01433.hp1 HG01433.hp2 HG01496.hp2 others(2): Show |
intron_variant | MODIFIER | c.892+177A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427480 | |||||||
chr8:12427492 | C | A | 1 | a0006c0006t0008g0001 | 2 | HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.892+165G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427492 | |||||||
chr8:12427514 | C | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+143G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427514 | |||||||
chr8:12427516 | G | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+141C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427516 | |||||||
chr8:12427517 | G | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+140C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427517 | |||||||
chr8:12427555 | A | G | 14 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(11): Show |
14 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(11): Show |
intron_variant | MODIFIER | c.892+102T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427555 | |||||||
chr8:12427565 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+92G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427565 | |||||||
chr8:12427574 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.892+83T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427574 | |||||||
chr8:12427577 | G | A | 6 | a0004c0020t0019g0013 a0006c0006t0008g0001 a0006c0012t0011g0005 others(3): Show |
7 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(4): Show |
intron_variant | MODIFIER | c.892+80C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427577 | |||||||
chr8:12427593 | T | C | 11 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0019t0007g0020 others(8): Show |
13 | HG01433.hp1 HG01433.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.892+64A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427593 | |||||||
chr8:12427594 | C | T | 11 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0019t0007g0020 others(8): Show |
13 | HG01433.hp1 HG01433.hp2 HG01884.hp1 others(10): Show |
intron_variant | MODIFIER | c.892+63G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427594 | |||||||
chr8:12427623 | C | G | 24 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(21): Show |
25 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(22): Show |
intron_variant | MODIFIER | c.892+34G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427623 | |||||||
chr8:12427636 | CG | C | 10 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.892+20delC | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427636 | |||||||
chr8:12427652 | T | C | 18 | a0001c0001t0001g0039 a0001c0001t0001g0040 a0004c0004t0009g0004 others(15): Show |
20 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(17): Show |
splice_region_variant&intron_variant | LOW | c.892+5A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 7/7 | chr8 | 12427652 | |||||||
chr8:12427811 | G | A | 2 | a0004c0019t0007g0020 a0007c0024t0007g0014 |
2 | HG01934.hp1 HG02976.hp2 |
splice_region_variant&intron_variant | LOW | c.743-5C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12427811 | |||||||
chr8:12427855 | G | T | 5 | a0004c0019t0007g0020 a0007c0023t0007g0019 a0007c0024t0007g0014 others(2): Show |
5 | HG01433.hp1 HG01433.hp2 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.743-49C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12427855 | |||||||
chr8:12427862 | C | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.743-56G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12427862 | |||||||
chr8:12427920 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.743-114G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12427920 | |||||||
chr8:12427959 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.743-153A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12427959 | |||||||
chr8:12428040 | G | GT | 4 | a0006c0006t0008g0001 a0009c0008t0012g0009 a0009c0008t0013g0008 others(1): Show |
5 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.743-235dupA | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428040 | |||||||
chr8:12428055 | G | A | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.743-249C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428055 | |||||||
chr8:12428066 | C | T | 3 | a0009c0008t0012g0009 a0009c0008t0013g0008 a0012c0013t0014g0012 |
3 | HG01884.hp1 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.743-260G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428066 | |||||||
chr8:12428069 | C | A | 4 | a0006c0006t0008g0001 a0009c0008t0012g0009 a0009c0008t0013g0008 others(1): Show |
5 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(2): Show |
intron_variant | MODIFIER | c.743-263G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428069 | |||||||
chr8:12428231 | T | C | 11 | a0004c0019t0007g0020 a0006c0006t0008g0001 a0006c0012t0011g0005 others(8): Show |
12 | HG01433.hp1 HG01433.hp2 HG01496.hp1 others(9): Show |
intron_variant | MODIFIER | c.742+402A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428231 | |||||||
chr8:12428264 | C | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+369G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428264 | |||||||
chr8:12428265 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+368T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428265 | |||||||
chr8:12428283 | C | T | 10 | a0004c0019t0007g0020 a0006c0006t0008g0001 a0006c0012t0011g0005 others(7): Show |
11 | HG01433.hp1 HG01433.hp2 HG01884.hp1 others(8): Show |
intron_variant | MODIFIER | c.742+350G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428283 | |||||||
chr8:12428328 | G | A | 17 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(14): Show |
17 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.742+305C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428328 | |||||||
chr8:12428355 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+278G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428355 | |||||||
chr8:12428371 | C | A | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.742+262G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428371 | |||||||
chr8:12428414 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+219G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428414 | |||||||
chr8:12428417 | G | A | 2 | a0004c0019t0007g0020 a0015c0021t0016g0021 |
2 | HG02976.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.742+216C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428417 | |||||||
chr8:12428438 | C | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+195G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428438 | |||||||
chr8:12428457 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+176A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428457 | |||||||
chr8:12428463 | T | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+170A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428463 | |||||||
chr8:12428489 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+144G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428489 | |||||||
chr8:12428494 | T | G | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+139A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428494 | |||||||
chr8:12428495 | G | A | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+138C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428495 | |||||||
chr8:12428496 | G | C | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+137C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428496 | |||||||
chr8:12428498 | G | C | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+135C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428498 | |||||||
chr8:12428500 | C | A | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+133G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428500 | |||||||
chr8:12428502 | C | G | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+131G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428502 | |||||||
chr8:12428505 | A | T | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+128T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428505 | |||||||
chr8:12428508 | A | T | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.742+125T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428508 | |||||||
chr8:12428531 | G | A | 10 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.742+102C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428531 | |||||||
chr8:12428540 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+93G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428540 | |||||||
chr8:12428546 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.742+87A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428546 | |||||||
chr8:12428595 | G | A | 1 | a0004c0004t0009g0004 | 2 | HG02572.hp2 HG02717.hp2 |
intron_variant | MODIFIER | c.742+38C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428595 | |||||||
chr8:12428630 | T | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.742+3A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 6/7 | chr8 | 12428630 | |||||||
chr8:12428950 | C | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.476+31G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/7 | chr8 | 12428950 | |||||||
chr8:12428953 | G | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.476+28C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/7 | chr8 | 12428953 | |||||||
chr8:12428973 | A | G | 10 | a0004c0019t0007g0020 a0006c0006t0008g0001 a0006c0012t0011g0005 others(7): Show |
11 | HG01433.hp1 HG01433.hp2 HG01884.hp1 others(8): Show |
splice_region_variant&intron_variant | LOW | c.476+8T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 5/7 | chr8 | 12428973 | |||||||
chr8:12429117 | GCAC | G | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
splice_region_variant&intron_variant | LOW | c.343-6_343-4delGTG | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429117 | |||||||
chr8:12429121 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
splice_region_variant&intron_variant | LOW | c.343-7G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429121 | |||||||
chr8:12429132 | G | A | 1 | a0010c0016t0003g0011 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.343-18C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429132 | |||||||
chr8:12429147 | G | A | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.343-33C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429147 | |||||||
chr8:12429208 | A | G | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.343-94T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429208 | |||||||
chr8:12429269 | G | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-155C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429269 | |||||||
chr8:12429281 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-167T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429281 | |||||||
chr8:12429294 | G | A | 2 | a0002c0007t0002g0024 a0002c0007t0002g0025 |
2 | HG01934.hp2 HG02698.hp2 |
intron_variant | MODIFIER | c.343-180C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429294 | |||||||
chr8:12429334 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-220A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429334 | |||||||
chr8:12429343 | T | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-229A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429343 | |||||||
chr8:12429355 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-241G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429355 | |||||||
chr8:12429415 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-301T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429415 | |||||||
chr8:12429435 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-321A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429435 | |||||||
chr8:12429448 | GTTTT | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.343-338_343-335del others(4): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429448 | |||||||
chr8:12429487 | A | AT | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0014c0015t0015g0023 others(1): Show |
4 | HG01496.hp1 HG02698.hp1 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.343-374dupA | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429487 | |||||||
chr8:12429487 | A | ATT | 6 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0007c0023t0007g0019 others(3): Show |
7 | HG00323.hp2 HG01433.hp1 HG01433.hp2 others(4): Show |
intron_variant | MODIFIER | c.343-375_343-374dup others(2): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429487 | |||||||
chr8:12429487 | ATTT | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-376_343-374del others(3): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429487 | |||||||
chr8:12429495 | T | C | 2 | a0002c0002t0004g0002 a0002c0002t0004g0030 |
3 | HG02976.hp1 HG03195.hp2 HG03471.hp2 |
intron_variant | MODIFIER | c.343-381A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429495 | |||||||
chr8:12429513 | C | A | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.343-399G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429513 | |||||||
chr8:12429544 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-430A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429544 | |||||||
chr8:12429597 | G | A | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-483C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429597 | |||||||
chr8:12429616 | G | A | 3 | a0009c0008t0012g0009 a0009c0008t0013g0008 a0012c0013t0014g0012 |
3 | HG01884.hp1 HG01884.hp2 HG02572.hp1 |
intron_variant | MODIFIER | c.343-502C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429616 | |||||||
chr8:12429631 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.343-517A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429631 | |||||||
chr8:12429685 | C | G | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.343-571G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429685 | |||||||
chr8:12429730 | C | T | 4 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0010c0016t0003g0011 others(1): Show |
4 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(1): Show |
intron_variant | MODIFIER | c.343-616G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429730 | |||||||
chr8:12429763 | G | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.342+587C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429763 | |||||||
chr8:12429768 | A | G | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.342+582T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429768 | |||||||
chr8:12429797 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.342+553G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429797 | |||||||
chr8:12429801 | T | C | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.342+549A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429801 | |||||||
chr8:12429929 | C | T | 5 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0009c0008t0012g0009 others(2): Show |
6 | HG01884.hp1 HG01884.hp2 HG02572.hp1 others(3): Show |
intron_variant | MODIFIER | c.342+421G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12429929 | |||||||
chr8:12430017 | C | T | 5 | a0004c0019t0007g0020 a0007c0023t0007g0019 a0007c0024t0007g0014 others(2): Show |
5 | HG01433.hp1 HG01433.hp2 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.342+333G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430017 | |||||||
chr8:12430019 | C | T | 2 | a0004c0004t0009g0004 a0004c0004t0017g0032 |
3 | HG02572.hp2 HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.342+331G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430019 | |||||||
chr8:12430043 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.342+307A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430043 | |||||||
chr8:12430051 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.342+299T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430051 | |||||||
chr8:12430062 | T | A | 1 | a0007c0023t0007g0019 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.342+288A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430062 | |||||||
chr8:12430119 | T | C | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.342+231A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430119 | |||||||
chr8:12430179 | G | A | 1 | a0007c0023t0007g0019 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.342+171C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430179 | |||||||
chr8:12430282 | C | G | 1 | a0007c0023t0007g0019 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.342+68G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 4/7 | chr8 | 12430282 | |||||||
chr8:12430555 | G | A | 5 | a0004c0019t0007g0020 a0007c0023t0007g0019 a0007c0024t0007g0014 others(2): Show |
5 | HG01433.hp1 HG01433.hp2 HG01934.hp1 others(2): Show |
intron_variant | MODIFIER | c.241-104C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430555 | |||||||
chr8:12430584 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-133G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430584 | |||||||
chr8:12430592 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-141C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430592 | |||||||
chr8:12430614 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-163C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430614 | |||||||
chr8:12430634 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-183T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430634 | |||||||
chr8:12430704 | TA | T | 4 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 others(1): Show |
5 | HG01433.hp1 HG02572.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.241-254delT | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430704 | |||||||
chr8:12430711 | A | G | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.241-260T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430711 | |||||||
chr8:12430716 | T | A | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.241-265A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430716 | |||||||
chr8:12430719 | TC | T | 2 | a0007c0023t0007g0019 a0011c0022t0018g0017 |
2 | HG01433.hp1 HG01433.hp2 |
intron_variant | MODIFIER | c.241-269delG | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430719 | |||||||
chr8:12430737 | C | G | 4 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 others(1): Show |
5 | HG02572.hp2 HG02647.hp2 HG02717.hp2 others(2): Show |
intron_variant | MODIFIER | c.241-286G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430737 | |||||||
chr8:12430751 | C | T | 32 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(29): Show |
32 | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(29): Show |
intron_variant | MODIFIER | c.241-300G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430751 | |||||||
chr8:12430756 | A | G | 5 | a0003c0010t0010g0033 a0003c0010t0010g0044 a0004c0004t0009g0004 others(2): Show |
6 | HG00323.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.241-305T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430756 | |||||||
chr8:12430768 | G | C | 5 | a0003c0010t0010g0033 a0003c0010t0010g0044 a0004c0004t0009g0004 others(2): Show |
6 | HG00323.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
intron_variant | MODIFIER | c.241-317C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430768 | |||||||
chr8:12430792 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-341A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430792 | |||||||
chr8:12430813 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-362G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430813 | |||||||
chr8:12430821 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-370G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430821 | |||||||
chr8:12430869 | G | C | 1 | a0006c0012t0011g0005 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.241-418C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430869 | |||||||
chr8:12430919 | G | T | 4 | a0002c0002t0002g0027 a0002c0002t0002g0028 a0007c0023t0007g0019 others(1): Show |
4 | HG01433.hp2 HG01934.hp1 HG02257.hp2 others(1): Show |
intron_variant | MODIFIER | c.241-468C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430919 | |||||||
chr8:12430921 | C | T | 19 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(16): Show |
19 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(16): Show |
intron_variant | MODIFIER | c.241-470G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430921 | |||||||
chr8:12430922 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-471C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430922 | |||||||
chr8:12430975 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-524T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12430975 | |||||||
chr8:12431030 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-579C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431030 | |||||||
chr8:12431054 | G | A | 1 | a0013c0018t0002g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.241-603C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431054 | |||||||
chr8:12431070 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-619G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431070 | |||||||
chr8:12431083 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-632T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431083 | |||||||
chr8:12431096 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-645C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431096 | |||||||
chr8:12431130 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-679A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431130 | |||||||
chr8:12431143 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-692G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431143 | |||||||
chr8:12431176 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-725T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431176 | |||||||
chr8:12431179 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-728T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431179 | |||||||
chr8:12431181 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-730A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431181 | |||||||
chr8:12431192 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-741G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431192 | |||||||
chr8:12431227 | C | A | 1 | a0013c0018t0002g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.241-776G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431227 | |||||||
chr8:12431245 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.241-794C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431245 | |||||||
chr8:12431254 | G | A | 6 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(3): Show |
7 | HG00323.hp2 HG01496.hp1 HG02698.hp1 others(4): Show |
intron_variant | MODIFIER | c.241-803C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431254 | |||||||
chr8:12431299 | A | G | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+783T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431299 | |||||||
chr8:12431328 | T | C | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+754A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431328 | |||||||
chr8:12431337 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+745G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431337 | |||||||
chr8:12431369 | T | C | 1 | a0007c0023t0007g0019 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.240+713A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431369 | |||||||
chr8:12431371 | C | A | 1 | a0007c0023t0007g0019 | 1 | HG01433.hp2 | intron_variant | MODIFIER | c.240+711G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431371 | |||||||
chr8:12431377 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+705G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431377 | |||||||
chr8:12431379 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+703T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431379 | |||||||
chr8:12431380 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+702T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431380 | |||||||
chr8:12431385 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+697T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431385 | |||||||
chr8:12431395 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+687T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431395 | |||||||
chr8:12431406 | G | T | 1 | a0017c0017t0003g0007 | 1 | NA18522.hp1 | intron_variant | MODIFIER | c.240+676C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431406 | |||||||
chr8:12431417 | TTAGCAGG others(1): Show |
T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+657_240+664del others(8): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431417 | |||||||
chr8:12431437 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+645T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431437 | |||||||
chr8:12431438 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+644G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431438 | |||||||
chr8:12431456 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+626G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431456 | |||||||
chr8:12431473 | C | T | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.240+609G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431473 | |||||||
chr8:12431477 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+605T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431477 | |||||||
chr8:12431487 | A | G | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+595T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431487 | |||||||
chr8:12431503 | C | T | 1 | a0013c0018t0002g0026 | 1 | HG02647.hp2 | intron_variant | MODIFIER | c.240+579G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431503 | |||||||
chr8:12431505 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+577T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431505 | |||||||
chr8:12431515 | ACT | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+565_240+566del others(2): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431515 | |||||||
chr8:12431524 | CA | C | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0007c0023t0007g0019 |
4 | HG01433.hp2 HG02572.hp2 HG02717.hp2 others(1): Show |
intron_variant | MODIFIER | c.240+557delT | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431524 | |||||||
chr8:12431528 | AAAAATAT others(14): Show |
A | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.240+533_240+553del others(21): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431528 | |||||||
chr8:12431528 | AAAAATAT others(26): Show |
A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+521_240+553del others(33): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431528 | |||||||
chr8:12431535 | TATAA | T | 3 | a0004c0019t0007g0020 a0011c0022t0018g0017 a0015c0021t0016g0021 |
3 | HG01433.hp1 HG02976.hp2 HG03471.hp1 |
intron_variant | MODIFIER | c.240+543_240+546del others(4): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431535 | |||||||
chr8:12431535 | TATAAATA others(5): Show |
T | 13 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(10): Show |
15 | HG01884.hp1 HG01934.hp2 HG02257.hp2 others(12): Show |
intron_variant | MODIFIER | c.240+535_240+546del others(12): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431535 | |||||||
chr8:12431535 | TATAAATA others(9): Show |
T | 1 | a0004c0020t0019g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.240+531_240+546del others(16): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431535 | |||||||
chr8:12431564 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+518T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431564 | |||||||
chr8:12431597 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+485T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431597 | |||||||
chr8:12431637 | A | G | 9 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 others(6): Show |
10 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(7): Show |
intron_variant | MODIFIER | c.240+445T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431637 | |||||||
chr8:12431682 | A | T | 2 | a0004c0004t0009g0004 a0004c0004t0017g0032 |
3 | HG02572.hp2 HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.240+400T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431682 | |||||||
chr8:12431685 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+397T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431685 | |||||||
chr8:12431712 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+370G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431712 | |||||||
chr8:12431719 | C | T | 17 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(14): Show |
17 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.240+363G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431719 | |||||||
chr8:12431720 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+362C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431720 | |||||||
chr8:12431748 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+334A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431748 | |||||||
chr8:12431751 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+331A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431751 | |||||||
chr8:12431756 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+326T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431756 | |||||||
chr8:12431757 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+325C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431757 | |||||||
chr8:12431759 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+323T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431759 | |||||||
chr8:12431766 | G | T | 4 | a0002c0002t0002g0022 a0002c0007t0002g0024 a0002c0007t0002g0025 others(1): Show |
4 | HG01934.hp2 HG02698.hp2 HG02738.hp2 others(1): Show |
intron_variant | MODIFIER | c.240+316C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431766 | |||||||
chr8:12431776 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+306A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431776 | |||||||
chr8:12431789 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+293C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431789 | |||||||
chr8:12431790 | T | C | 1 | a0006c0012t0011g0005 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.240+292A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431790 | |||||||
chr8:12431796 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+286C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431796 | |||||||
chr8:12431798 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+284A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431798 | |||||||
chr8:12431809 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+273T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431809 | |||||||
chr8:12431821 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+261G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431821 | |||||||
chr8:12431827 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+255C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431827 | |||||||
chr8:12431828 | C | G | 2 | a0005c0003t0005g0003 a0005c0003t0005g0031 |
3 | HG02647.hp1 HG02717.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.240+254G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431828 | |||||||
chr8:12431838 | A | G | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+244T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431838 | |||||||
chr8:12431848 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+234C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431848 | |||||||
chr8:12431873 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+209T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431873 | |||||||
chr8:12431874 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+208C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431874 | |||||||
chr8:12431881 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+201G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431881 | |||||||
chr8:12431883 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+199G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431883 | |||||||
chr8:12431887 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+195C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431887 | |||||||
chr8:12431893 | T | C | 9 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(6): Show |
10 | HG00323.hp2 HG01433.hp1 HG01496.hp1 others(7): Show |
intron_variant | MODIFIER | c.240+189A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431893 | |||||||
chr8:12431908 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+174T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431908 | |||||||
chr8:12431942 | T | A | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+140A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431942 | |||||||
chr8:12431945 | G | C | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.240+137C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431945 | |||||||
chr8:12431969 | G | C | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+113C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431969 | |||||||
chr8:12431981 | T | C | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+101A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12431981 | |||||||
chr8:12432017 | C | T | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.240+65G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432017 | |||||||
chr8:12432018 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+64C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432018 | |||||||
chr8:12432020 | A | G | 8 | a0006c0006t0008g0001 a0006c0012t0011g0005 a0008c0009t0003g0006 others(5): Show |
9 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(6): Show |
intron_variant | MODIFIER | c.240+62T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432020 | |||||||
chr8:12432022 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+60A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432022 | |||||||
chr8:12432023 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+59C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432023 | |||||||
chr8:12432025 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+57C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432025 | |||||||
chr8:12432029 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+53G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432029 | |||||||
chr8:12432032 | G | A | 11 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(8): Show |
12 | HG01884.hp1 HG01934.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.240+50C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432032 | |||||||
chr8:12432034 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+48G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432034 | |||||||
chr8:12432050 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+32G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432050 | |||||||
chr8:12432051 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+31T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432051 | |||||||
chr8:12432061 | C | T | 2 | a0005c0003t0005g0003 a0005c0003t0005g0031 |
3 | HG02647.hp1 HG02717.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.240+21G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432061 | |||||||
chr8:12432065 | C | T | 1 | a0004c0020t0019g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.240+17G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432065 | |||||||
chr8:12432072 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.240+10A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432072 | |||||||
chr8:12432075 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
splice_region_variant&intron_variant | LOW | c.240+7T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 3/7 | chr8 | 12432075 | |||||||
chr8:12432190 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-28G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432190 | |||||||
chr8:12432192 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-30A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432192 | |||||||
chr8:12432203 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-41G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432203 | |||||||
chr8:12432204 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-42A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432204 | |||||||
chr8:12432205 | TAAGTCTC | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-50_160-44delGA others(5): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432205 | |||||||
chr8:12432261 | A | G | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.160-99T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432261 | |||||||
chr8:12432296 | T | C | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.160-134A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432296 | |||||||
chr8:12432304 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-142A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432304 | |||||||
chr8:12432334 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-172G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432334 | |||||||
chr8:12432340 | C | T | 1 | a0008c0009t0003g0006 | 1 | HG02698.hp1 | intron_variant | MODIFIER | c.160-178G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432340 | |||||||
chr8:12432345 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-183T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432345 | |||||||
chr8:12432388 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-226A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432388 | |||||||
chr8:12432439 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-277G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432439 | |||||||
chr8:12432476 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-314A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432476 | |||||||
chr8:12432513 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-351T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432513 | |||||||
chr8:12432534 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-372G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432534 | |||||||
chr8:12432595 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-433T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432595 | |||||||
chr8:12432603 | T | C | 32 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(29): Show |
34 | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(31): Show |
intron_variant | MODIFIER | c.160-441A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432603 | |||||||
chr8:12432611 | G | A | 1 | a0012c0013t0014g0012 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.160-449C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432611 | |||||||
chr8:12432616 | G | A | 1 | a0006c0012t0011g0005 | 1 | HG02895.hp2 | intron_variant | MODIFIER | c.160-454C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432616 | |||||||
chr8:12432643 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-481C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432643 | |||||||
chr8:12432675 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-513G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432675 | |||||||
chr8:12432676 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-514C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432676 | |||||||
chr8:12432692 | C | A | 1 | a0010c0016t0003g0011 | 1 | HG00323.hp2 | intron_variant | MODIFIER | c.160-530G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432692 | |||||||
chr8:12432710 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-548C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432710 | |||||||
chr8:12432722 | T | A | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.160-560A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432722 | |||||||
chr8:12432722 | T | G | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.160-560A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432722 | |||||||
chr8:12432731 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-569G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432731 | |||||||
chr8:12432767 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-605G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432767 | |||||||
chr8:12432772 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-610C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432772 | |||||||
chr8:12432776 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-614G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432776 | |||||||
chr8:12432802 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-640A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432802 | |||||||
chr8:12432809 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-647G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432809 | |||||||
chr8:12432818 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-656G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432818 | |||||||
chr8:12432830 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-668C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432830 | |||||||
chr8:12432855 | G | T | 17 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(14): Show |
17 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(14): Show |
intron_variant | MODIFIER | c.160-693C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432855 | |||||||
chr8:12432859 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-697A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432859 | |||||||
chr8:12432870 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-708A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432870 | |||||||
chr8:12432872 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-710C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432872 | |||||||
chr8:12432878 | ACC | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-718_160-717del others(2): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432878 | |||||||
chr8:12432883 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-721C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432883 | |||||||
chr8:12432890 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-728C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432890 | |||||||
chr8:12432910 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-748C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432910 | |||||||
chr8:12432926 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-764A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432926 | |||||||
chr8:12432935 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-773A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432935 | |||||||
chr8:12432936 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-774C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432936 | |||||||
chr8:12432957 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-795G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432957 | |||||||
chr8:12432988 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-826T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12432988 | |||||||
chr8:12433016 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-854T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433016 | |||||||
chr8:12433025 | AT | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-864delA | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433025 | |||||||
chr8:12433035 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-873T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433035 | |||||||
chr8:12433051 | G | A | 2 | a0003c0005t0001g0043 a0003c0005t0006g0015 |
2 | HG01255.hp1 HG01255.hp2 |
intron_variant | MODIFIER | c.160-889C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433051 | |||||||
chr8:12433060 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-898G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433060 | |||||||
chr8:12433066 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-904C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433066 | |||||||
chr8:12433088 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.160-926A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433088 | |||||||
chr8:12433123 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+929T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433123 | |||||||
chr8:12433125 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+927T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433125 | |||||||
chr8:12433130 | GGATTACA others(3): Show |
G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+912_159+921del others(10): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433130 | |||||||
chr8:12433151 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+901T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433151 | |||||||
chr8:12433154 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+898T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433154 | |||||||
chr8:12433166 | C | G | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.159+886G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433166 | |||||||
chr8:12433186 | C | G | 10 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.159+866G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433186 | |||||||
chr8:12433212 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+840A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433212 | |||||||
chr8:12433238 | A | G | 3 | a0007c0023t0007g0019 a0007c0024t0007g0014 a0011c0022t0018g0017 |
3 | HG01433.hp1 HG01433.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.159+814T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433238 | |||||||
chr8:12433249 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+803G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433249 | |||||||
chr8:12433305 | A | G | 2 | a0005c0003t0005g0003 a0005c0003t0005g0031 |
3 | HG02647.hp1 HG02717.hp1 HG03579.hp1 |
intron_variant | MODIFIER | c.159+747T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433305 | |||||||
chr8:12433320 | T | TG | 44 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(41): Show |
48 | HG00323.hp1 HG00323.hp2 HG01255.hp1 others(45): Show |
intron_variant | MODIFIER | c.159+731dupC | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433320 | |||||||
chr8:12433336 | C | T | 3 | a0007c0023t0007g0019 a0007c0024t0007g0014 a0011c0022t0018g0017 |
3 | HG01433.hp1 HG01433.hp2 HG01934.hp1 |
intron_variant | MODIFIER | c.159+716G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433336 | |||||||
chr8:12433355 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+697A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433355 | |||||||
chr8:12433379 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+673C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433379 | |||||||
chr8:12433409 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+643G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433409 | |||||||
chr8:12433428 | C | T | 1 | a0002c0002t0002g0022 | 1 | NA18950.hp2 | intron_variant | MODIFIER | c.159+624G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433428 | |||||||
chr8:12433451 | A | ATTC | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+598_159+600dup others(3): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433451 | |||||||
chr8:12433499 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+553T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433499 | |||||||
chr8:12433513 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+539G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433513 | |||||||
chr8:12433514 | C | T | 16 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(13): Show |
16 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(13): Show |
intron_variant | MODIFIER | c.159+538G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433514 | |||||||
chr8:12433518 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+534A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433518 | |||||||
chr8:12433565 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+487A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433565 | |||||||
chr8:12433577 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+475G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433577 | |||||||
chr8:12433582 | G | A | 11 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(8): Show |
12 | HG01884.hp1 HG01934.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.159+470C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433582 | |||||||
chr8:12433589 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+463G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433589 | |||||||
chr8:12433591 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+461T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433591 | |||||||
chr8:12433593 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+459C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433593 | |||||||
chr8:12433613 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+439A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433613 | |||||||
chr8:12433638 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+414T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433638 | |||||||
chr8:12433661 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+391C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433661 | |||||||
chr8:12433674 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+378G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433674 | |||||||
chr8:12433679 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+373T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433679 | |||||||
chr8:12433702 | G | T | 1 | a0011c0022t0018g0017 | 1 | HG01433.hp1 | intron_variant | MODIFIER | c.159+350C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433702 | |||||||
chr8:12433703 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+349G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433703 | |||||||
chr8:12433738 | T | C | 21 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(18): Show |
21 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(18): Show |
intron_variant | MODIFIER | c.159+314A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433738 | |||||||
chr8:12433786 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+266A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433786 | |||||||
chr8:12433820 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+232G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433820 | |||||||
chr8:12433831 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+221T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433831 | |||||||
chr8:12433853 | T | TG | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+198_159+199ins others(1): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433853 | |||||||
chr8:12433865 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+187G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433865 | |||||||
chr8:12433879 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+173G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433879 | |||||||
chr8:12433880 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+172G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433880 | |||||||
chr8:12433882 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+170A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433882 | |||||||
chr8:12433906 | C | A | 10 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(7): Show |
11 | HG01934.hp2 HG02257.hp2 HG02647.hp2 others(8): Show |
intron_variant | MODIFIER | c.159+146G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433906 | |||||||
chr8:12433906 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+146G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433906 | |||||||
chr8:12433909 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+143A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433909 | |||||||
chr8:12433910 | T | C | 25 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(22): Show |
27 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.159+142A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433910 | |||||||
chr8:12433914 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+138T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433914 | |||||||
chr8:12433945 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+107C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433945 | |||||||
chr8:12433948 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+104C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433948 | |||||||
chr8:12433949 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+103C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433949 | |||||||
chr8:12433950 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+102G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433950 | |||||||
chr8:12433964 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+88A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433964 | |||||||
chr8:12433977 | G | C | 1 | a0004c0020t0019g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.159+75C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433977 | |||||||
chr8:12433978 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+74A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433978 | |||||||
chr8:12433980 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+72G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433980 | |||||||
chr8:12433982 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+70C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12433982 | |||||||
chr8:12434020 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+32T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12434020 | |||||||
chr8:12434043 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.159+9C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 2/7 | chr8 | 12434043 | |||||||
chr8:12434124 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-10A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434124 | |||||||
chr8:12434149 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-35G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434149 | |||||||
chr8:12434165 | T | TA | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-52dupT | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434165 | |||||||
chr8:12434474 | G | A | 2 | a0004c0004t0009g0004 a0004c0004t0017g0032 |
3 | HG02572.hp2 HG02717.hp2 HG03195.hp1 |
intron_variant | MODIFIER | c.97-360C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434474 | |||||||
chr8:12434511 | C | A | 11 | a0002c0002t0002g0022 a0002c0002t0002g0027 a0002c0002t0002g0028 others(8): Show |
12 | HG01884.hp1 HG01934.hp2 HG02257.hp2 others(9): Show |
intron_variant | MODIFIER | c.97-397G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434511 | |||||||
chr8:12434650 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-536G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434650 | |||||||
chr8:12434653 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-539C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434653 | |||||||
chr8:12434664 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-550G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434664 | |||||||
chr8:12434666 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-552T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434666 | |||||||
chr8:12434676 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-562G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434676 | |||||||
chr8:12434706 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-592C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434706 | |||||||
chr8:12434712 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-598G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434712 | |||||||
chr8:12434717 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-603C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434717 | |||||||
chr8:12434739 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-625T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434739 | |||||||
chr8:12434747 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-633T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434747 | |||||||
chr8:12434766 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-652A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434766 | |||||||
chr8:12434811 | C | T | 20 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(17): Show |
20 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.97-697G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434811 | |||||||
chr8:12434857 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-743A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434857 | |||||||
chr8:12434870 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-756T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434870 | |||||||
chr8:12434871 | C | G | 10 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(7): Show |
10 | HG02165.hp1 HG02165.hp2 HG02257.hp1 others(7): Show |
intron_variant | MODIFIER | c.97-757G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434871 | |||||||
chr8:12434899 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-785A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434899 | |||||||
chr8:12434909 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-795T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434909 | |||||||
chr8:12434953 | A | ATTTATTT others(1): Show |
2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-840_97-839insCA others(6): Show |
FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434953 | |||||||
chr8:12434965 | G | T | 14 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(11): Show |
15 | HG02165.hp1 HG02165.hp2 HG02257.hp1 others(12): Show |
intron_variant | MODIFIER | c.97-851C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12434965 | |||||||
chr8:12435007 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-893G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435007 | |||||||
chr8:12435020 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-906G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435020 | |||||||
chr8:12435028 | C | T | 1 | a0007c0024t0007g0014 | 1 | HG01934.hp1 | intron_variant | MODIFIER | c.97-914G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435028 | |||||||
chr8:12435029 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-915C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435029 | |||||||
chr8:12435059 | A | AG | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-946_97-945insC | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435059 | |||||||
chr8:12435060 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-946T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435060 | |||||||
chr8:12435061 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-947C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435061 | |||||||
chr8:12435061 | G | T | 1 | a0012c0013t0014g0012 | 1 | HG01884.hp1 | intron_variant | MODIFIER | c.97-947C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435061 | |||||||
chr8:12435085 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-971C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435085 | |||||||
chr8:12435113 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-999C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435113 | |||||||
chr8:12435119 | A | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-1005T>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435119 | |||||||
chr8:12435131 | T | C | 27 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(24): Show |
30 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(27): Show |
intron_variant | MODIFIER | c.97-1017A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435131 | |||||||
chr8:12435137 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-1023C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435137 | |||||||
chr8:12435169 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-1055G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435169 | |||||||
chr8:12435170 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-1056G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435170 | |||||||
chr8:12435180 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.97-1066A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435180 | |||||||
chr8:12435194 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+1054A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435194 | |||||||
chr8:12435208 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+1040T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435208 | |||||||
chr8:12435299 | T | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+949A>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435299 | |||||||
chr8:12435357 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+891C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435357 | |||||||
chr8:12435393 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+855A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435393 | |||||||
chr8:12435398 | G | T | 1 | a0001c0001t0006g0016 | 1 | NA19012.hp2 | intron_variant | MODIFIER | c.96+850C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435398 | |||||||
chr8:12435446 | T | C | 1 | a0001c0011t0020g0045 | 1 | HG02257.hp1 | intron_variant | MODIFIER | c.96+802A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435446 | |||||||
chr8:12435478 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+770G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435478 | |||||||
chr8:12435480 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+768G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435480 | |||||||
chr8:12435525 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+723C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435525 | |||||||
chr8:12435538 | T | C | 25 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(22): Show |
27 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(24): Show |
intron_variant | MODIFIER | c.96+710A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435538 | |||||||
chr8:12435539 | G | A | 20 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(17): Show |
20 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(17): Show |
intron_variant | MODIFIER | c.96+709C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435539 | |||||||
chr8:12435540 | C | A | 3 | a0004c0004t0009g0004 a0004c0004t0017g0032 a0004c0020t0019g0013 |
4 | HG02572.hp2 HG02717.hp2 HG02895.hp1 others(1): Show |
intron_variant | MODIFIER | c.96+708G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435540 | |||||||
chr8:12435597 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+651G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435597 | |||||||
chr8:12435608 | T | TC | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+639dupG | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435608 | |||||||
chr8:12435621 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+627T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435621 | |||||||
chr8:12435686 | G | A | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+562C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435686 | |||||||
chr8:12435691 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+557G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435691 | |||||||
chr8:12435725 | G | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+523C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435725 | |||||||
chr8:12435740 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+508G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435740 | |||||||
chr8:12435751 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+497C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435751 | |||||||
chr8:12435791 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+457G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435791 | |||||||
chr8:12435798 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+450C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435798 | |||||||
chr8:12435801 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+447G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435801 | |||||||
chr8:12435834 | A | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+414T>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435834 | |||||||
chr8:12435848 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+400C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435848 | |||||||
chr8:12435862 | A | G | 22 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(19): Show |
23 | HG00323.hp1 HG01255.hp1 HG01255.hp2 others(20): Show |
intron_variant | MODIFIER | c.96+386T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435862 | |||||||
chr8:12435874 | A | G | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+374T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435874 | |||||||
chr8:12435885 | C | T | 2 | a0003c0005t0006g0015 a0007c0024t0007g0014 |
2 | HG01255.hp1 HG01934.hp1 |
intron_variant | MODIFIER | c.96+363G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435885 | |||||||
chr8:12435923 | T | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+325A>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435923 | |||||||
chr8:12435928 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+320G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435928 | |||||||
chr8:12435970 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+278C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435970 | |||||||
chr8:12435988 | C | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+260G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12435988 | |||||||
chr8:12436000 | C | G | 14 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(11): Show |
14 | HG00323.hp1 HG01255.hp2 HG01496.hp2 others(11): Show |
intron_variant | MODIFIER | c.96+248G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436000 | |||||||
chr8:12436002 | AGC | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+244_96+245delGC | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436002 | |||||||
chr8:12436013 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+235T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436013 | |||||||
chr8:12436015 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+233G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436015 | |||||||
chr8:12436019 | T | C | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+229A>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436019 | |||||||
chr8:12436023 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+225C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436023 | |||||||
chr8:12436025 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+223C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436025 | |||||||
chr8:12436047 | G | C | 1 | a0001c0001t0001g0046 | 1 | HG02165.hp2 | intron_variant | MODIFIER | c.96+201C>G | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436047 | |||||||
chr8:12436067 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+181T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436067 | |||||||
chr8:12436069 | G | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+179C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436069 | |||||||
chr8:12436072 | G | A | 6 | a0008c0009t0003g0006 a0008c0009t0003g0010 a0009c0008t0012g0009 others(3): Show |
6 | HG00323.hp2 HG01496.hp1 HG01884.hp2 others(3): Show |
intron_variant | MODIFIER | c.96+176C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436072 | |||||||
chr8:12436075 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+173G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436075 | |||||||
chr8:12436098 | G | T | 1 | a0004c0020t0019g0013 | 1 | HG02895.hp1 | intron_variant | MODIFIER | c.96+150C>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436098 | |||||||
chr8:12436129 | G | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+119C>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436129 | |||||||
chr8:12436130 | A | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+118T>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436130 | |||||||
chr8:12436155 | C | A | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+93G>T | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436155 | |||||||
chr8:12436160 | C | T | 1 | a0003c0010t0010g0033 | 1 | HG00323.hp1 | intron_variant | MODIFIER | c.96+88G>A | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436160 | |||||||
chr8:12436205 | TC | T | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+42delG | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436205 | |||||||
chr8:12436213 | C | G | 2 | a0006c0006t0008g0001 a0006c0012t0011g0005 |
3 | HG02895.hp2 HG03490.hp1 NA18950.hp1 |
intron_variant | MODIFIER | c.96+35G>C | FAM86B2 | ENSG00000145002.13 | transcript | ENST00000262365.9 | protein_coding | 1/7 | chr8 | 12436213 |